Variant report

Variant	rs11180483
Chromosome Location	chr12:75785100-75785101
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:332)
CpG islands
(count:122)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:332 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:75784623-75785393	A549	lung:	n/a	n/a
2	POLR2A	chr12:75784705-75785273	A549	lung:	n/a	n/a
3	MYC	chr12:75784869-75785118	MCF-7	breast:	n/a	n/a
4	POLR2A	chr12:75784794-75785423	GM12891	blood:	n/a	n/a
5	POLR2A	chr12:75784469-75785385	Hela-S3	cervix:	n/a	n/a
6	TBP	chr12:75784745-75785312	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr12:75784783-75785116	SK-N-SH_RA	brain:	n/a	n/a
8	POLR2A	chr12:75784516-75785328	PANC-1	pancreas:	n/a	n/a
9	POLR2A	chr12:75784821-75785236	A549	lung:	n/a	n/a
10	EBF1	chr12:75784813-75785495	GM12878	blood:	n/a	n/a
11	YY1	chr12:75784618-75785125	HCT-116	colon:	n/a	n/a
12	CTCF	chr12:75784796-75785207	NHEK	skin:	n/a	n/a
13	CTCF	chr12:75784803-75785255	MCF-7	breast:	n/a	n/a
14	BHLHE40	chr12:75784840-75785275	K562	blood:	n/a	n/a
15	HCFC1	chr12:75784764-75785191	K562	blood:	n/a	n/a
16	ELF1	chr12:75784500-75785333	MCF-7	breast:	n/a	n/a
17	STAT5A	chr12:75784651-75785353	GM12878	blood:	n/a	n/a
18	POLR2A	chr12:75784571-75785359	HUVEC	blood vessel:	n/a	n/a
19	NRF1	chr12:75784660-75785156	Hela-S3	cervix:	n/a	chr12:75784860-75784874 chr12:75784862-75784871 chr12:75784860-75784871 chr12:75784860-75784871
20	IRF4	chr12:75784688-75785214	GM12878	blood:	n/a	n/a
21	ELF1	chr12:75784634-75785276	GM12878	blood:	n/a	n/a
22	EP300	chr12:75784415-75785291	GM12878	blood:	n/a	chr12:75784526-75784535 chr12:75784525-75784534
23	FOXA2	chr12:75784732-75785438	A549	lung:	n/a	n/a
24	CTCF	chr12:75784806-75785353	GM10266	blood:	n/a	n/a
25	MYC	chr12:75784763-75785162	K562	blood:	n/a	n/a
26	MAX	chr12:75784604-75785427	SK-N-SH	brain:	n/a	n/a
27	RCOR1	chr12:75784589-75785247	K562	blood:	n/a	n/a
28	EP300	chr12:75784456-75785128	SK-N-SH_RA	brain:	n/a	chr12:75784526-75784535 chr12:75784525-75784534
29	RAD21	chr12:75784730-75785111	HepG2	liver:	n/a	n/a
30	BRCA1	chr12:75784330-75785425	Hela-S3	cervix:	n/a	n/a
31	TAF1	chr12:75784756-75785364	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr12:75784495-75785304	GM18951	blood:	n/a	n/a
33	MAZ	chr12:75784427-75785199	Hela-S3	cervix:	n/a	chr12:75784525-75784534 chr12:75784526-75784535
34	SMC3	chr12:75784750-75785419	GM12878	blood:	n/a	n/a
35	POLR2A	chr12:75784457-75785352	GM15510	blood:	n/a	n/a
36	YY1	chr12:75784786-75785115	K562	blood:	n/a	n/a
37	MAX	chr12:75784403-75785392	Hela-S3	cervix:	n/a	chr12:75784525-75784534 chr12:75784526-75784535
38	ELF1	chr12:75784504-75785402	MCF-7	breast:	n/a	n/a
39	CREB1	chr12:75784691-75785344	A549	lung:	n/a	n/a
40	TBP	chr12:75784583-75785317	GM12878	blood:	n/a	n/a
41	NFATC1	chr12:75784709-75785234	GM12878	blood:	n/a	n/a
42	STAT5A	chr12:75784817-75785269	GM12878	blood:	n/a	n/a
43	POLR2A	chr12:75784564-75785320	PFSK-1	brain:	n/a	n/a
44	POLR2A	chr12:75784450-75785308	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr12:75784711-75785155	H1-neurons	neurons:	n/a	n/a
46	POLR2A	chr12:75784417-75785301	PBDE	blood:	n/a	n/a
47	FOXP2	chr12:75784686-75785209	PFSK-1	brain:	n/a	n/a
48	SIN3A	chr12:75784932-75785321	GM12878	blood:	n/a	n/a
49	ELF1	chr12:75784436-75785220	A549	lung:	n/a	n/a
50	MAZ	chr12:75784348-75785376	GM12878	blood:	n/a	chr12:75784525-75784534 chr12:75784526-75784535

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:75785097-75785147	HL-60	blood:	n/a
2	chr12:75785097-75785147	GM12892	blood:	n/a
3	chr12:75785089-75785139	HCF	heart:	n/a
4	chr12:75785097-75785147	NB4	blood:	n/a
5	chr12:75785089-75785139	PrEC	prostate:	n/a
6	chr12:75785089-75785139	HRE	kidney:	n/a
7	chr12:75785089-75785139	NT2-D1	testis:	n/a
8	chr12:75785097-75785147	GM06990	blood:	n/a
9	chr12:75785097-75785147	Jurkat	blood:	n/a
10	chr12:75785089-75785139	HIPEpiC	eye:	n/a
11	chr12:75785097-75785147	HPAEpiC	pulmonary alveolar:	n/a
12	chr12:75785089-75785139	HUVEC	blood vessel:	n/a
13	chr12:75785097-75785147	MCF10A-Er-Src	breast:	n/a
14	chr12:75785089-75785139	GM06990	blood:	n/a
15	chr12:75785097-75785147	RPTEC	kidney:	n/a
16	chr12:75785089-75785139	AoSMC	blood vessel:	n/a
17	chr12:75785097-75785147	SK-N-SH	brain:	n/a
18	chr12:75785089-75785139	HNPCEpiC	eye:	n/a
19	chr12:75785097-75785147	MCF-7	breast:	n/a
20	chr12:75785097-75785147	NHDF-neo	bronchial:	n/a
21	chr12:75785097-75785147	HCPEpiC	choroid plexus:	n/a
22	chr12:75785089-75785139	HMEC	breast:	n/a
23	chr12:75785089-75785139	A549	lung:	n/a
24	chr12:75785097-75785147	U87	brain:	n/a
25	chr12:75785097-75785147	AG10803	skin:	n/a
26	chr12:75785089-75785139	LNCaP	prostate:	n/a
27	chr12:75785097-75785147	HCT-116	colon:	n/a
28	chr12:75785097-75785147	GM12891	blood:	n/a
29	chr12:75785089-75785139	Caco-2	colon:	n/a
30	chr12:75785089-75785139	AG04449	skin:	fetal
31	chr12:75785089-75785139	ECC-1	luminal epithelium:	n/a
32	chr12:75785097-75785147	H1-hESC	embryonic stem cell:	embryo
33	chr12:75785089-75785139	Hepatocyte	liver:	n/a
34	chr12:75785097-75785147	K562	blood:	n/a
35	chr12:75785097-75785147	NT2-D1	testis:	n/a
36	chr12:75785089-75785139	Jurkat	blood:	n/a
37	chr12:75785097-75785147	HRE	kidney:	n/a
38	chr12:75785089-75785139	HAEpiC	amniotic membrane:	n/a
39	chr12:75785089-75785139	AG10803	skin:	n/a
40	chr12:75785089-75785139	T-47D	breast:	n/a
41	chr12:75785089-75785139	NH-A	brain:	n/a
42	chr12:75785097-75785147	AoSMC	blood vessel:	n/a
43	chr12:75785097-75785147	SK-N-SH_RA	brain:	n/a
44	chr12:75785089-75785139	BE2_C	brain:	n/a
45	chr12:75785089-75785139	MCF10A-Er-Src	breast:	n/a
46	chr12:75785089-75785139	AG04450	lung:	fetal
47	chr12:75785089-75785139	SKMC	muscle:	n/a
48	chr12:75785089-75785139	HPAEpiC	pulmonary alveolar:	n/a
49	chr12:75785097-75785147	ECC-1	luminal epithelium:	n/a
50	chr12:75785089-75785139	AG09319	gingival:	n/a

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No.	Distal block	Cell Line	Cell type
1	chr12:75728018..75728653-chr12:75784583..75785432,2	MCF-7	breast:
2	chr12:75783435..75786287-chr12:76426934..76428474,2	MCF-7	breast:
3	chr12:75784832..75785418-chr22:41842695..41843500,2	HCT-116	colon:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GLIPR1L2-1	chr12:75784850-75785130	NR_072995

No data

Variant related genes	Relation type
GLIPR1L2	TF binding region
CAPS2	TF binding region
CAPS2	CpG island
GLIPR1L2	CpG island
ENSG00000173401	Chromatin interaction
ENSG00000139289	Chromatin interaction
ENSG00000183864	Chromatin interaction

Extended variants
information (count: 188 )
Associated
traits (count: 29 )

rSNPs within LD-proxies of this variant (count:180)

rs_ID	r²[population]
rs10506668	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1051446	1.00[CEU][hapmap];0.86[CHB][hapmap];0.86[CHD][hapmap];0.91[JPT][hapmap];0.84[MEX][hapmap];0.95[TSI][hapmap]
rs10785187	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10785189	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10785190	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10879900	0.82[JPT][hapmap]
rs10879905	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10879906	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10879907	1.00[CEU][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10879913	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10879916	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10879918	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10879919	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10879922	1.00[CEU][hapmap];0.82[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.90[MEX][hapmap];0.97[TSI][hapmap];0.85[EUR][1000 genomes]
rs10879923	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs11180456	0.86[JPT][hapmap]
rs11180460	0.85[MEX][hapmap]
rs11180465	0.82[JPT][hapmap];0.80[MEX][hapmap];0.93[TSI][hapmap]
rs11180470	0.82[JPT][hapmap];0.92[TSI][hapmap]
rs11180473	0.86[JPT][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11180475	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11180484	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11180488	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11180489	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11180492	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11180495	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11180496	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11180497	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11180498	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11180508	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11180509	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11180510	0.89[CHB][hapmap];0.85[JPT][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11180511	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11180512	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11180513	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11180514	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11180524	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11180526	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11180527	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11180528	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11180533	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11180535	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11180536	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11180537	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11180538	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11180540	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11180546	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11180547	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11180548	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.90[MEX][hapmap];0.97[TSI][hapmap];0.85[EUR][1000 genomes]
rs11829208	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11829233	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11831200	0.85[MEX][hapmap]
rs11831340	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11833819	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11837697	0.85[MEX][hapmap]
rs12099961	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12146845	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12366348	0.86[JPT][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12367329	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12369556	0.91[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12371293	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12372516	0.86[JPT][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12422952	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.85[EUR][1000 genomes]
rs12579143	0.81[EUR][1000 genomes]
rs12579161	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12581394	0.82[JPT][hapmap];0.80[MEX][hapmap];0.92[TSI][hapmap]
rs12581663	0.82[EUR][1000 genomes]
rs12581937	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12582825	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1543946	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17114962	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17114964	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17115087	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17115098	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1875470	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1875471	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1909968	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1909969	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1909970	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1909971	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1909972	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1909973	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1909979	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2102135	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2134141	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2202104	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2242435	0.89[CEU][hapmap];0.86[CHB][hapmap];0.87[CHD][hapmap];0.90[MEX][hapmap];0.80[TSI][hapmap]
rs2292009	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2292010	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3741496	1.00[CEU][hapmap];0.86[CHB][hapmap];0.86[CHD][hapmap];0.91[JPT][hapmap];0.85[MEX][hapmap];0.97[TSI][hapmap]
rs3759089	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3759090	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3858535	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3923914	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4019363	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4019366	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4019368	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4019400	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4255573	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4394867	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4409878	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4415811	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4533075	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4565939	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4565940	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4583012	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4587767	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4623941	0.86[JPT][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4882618	0.90[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4882619	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4882620	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4882624	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4882625	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4882628	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4882629	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4882687	0.82[JPT][hapmap];0.90[MEX][hapmap];0.90[TSI][hapmap]
rs4882689	0.86[JPT][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56829278	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57613088	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58018505	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59282813	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59516478	0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6582289	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67705855	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67904412	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7133490	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7134260	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7135164	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7135208	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7135440	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7135971	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7136080	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7136556	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7136911	0.81[JPT][hapmap]
rs7137981	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7296131	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7297994	0.82[JPT][hapmap];0.87[TSI][hapmap]
rs7298541	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7299877	1.00[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap];0.84[EUR][1000 genomes]
rs7300071	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7300296	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7300345	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7305433	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7306050	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7307352	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7311260	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7311359	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7315091	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73191008	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73354209	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73364090	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73364096	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs73365996	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7486473	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7488050	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7954633	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7957713	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7958067	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7963723	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7963834	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7963977	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7964070	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7964900	0.83[EUR][1000 genomes]
rs7965228	0.83[EUR][1000 genomes]
rs7966268	1.00[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap]
rs7966341	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7966763	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7967014	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7967699	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7967731	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7969930	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7970458	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7972809	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7973632	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7974011	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.95[MEX][hapmap];0.97[TSI][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7975447	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7975661	0.82[JPT][hapmap];0.90[MEX][hapmap];0.90[TSI][hapmap]
rs7978312	0.82[JPT][hapmap];0.95[MEX][hapmap];0.93[TSI][hapmap]
rs7978856	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9668552	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492067	chr12:75415458-76077537	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1036987	chr12:75415532-76101559	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv899312	chr12:75692261-75790817	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv899313	chr12:75715330-76057811	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv1040583	chr12:75742802-76360276	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv428592	chr12:75766619-75936721	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
7	nsv948653	chr12:75773464-76220618	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
8	esv3374621	chr12:75783234-75806310	Flanking Active TSS Enhancers Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:29)

SNP	Gene	Cis/trans	Tissue	Source
rs11180483	GLIPR1	cis	cerebellum	SCAN
rs11180483	GLIPR1L2	cis	lung	GTEx
rs11180483	GLIPR1L2	cis	Esophagus Mucosa	GTEx
rs11180483	GLIPR1L2	cis	Artery Aorta	GTEx
rs11180483	RP11-585P4.5	cis	Artery Tibial	GTEx
rs11180483	GLIPR1	cis	parietal	SCAN
rs11180483	GLIPR1L2	cis	Muscle Skeletal	GTEx
rs11180483	RP11-585P4.5	cis	Adipose Subcutaneous	GTEx
rs11180483	RP11-585P4.5	cis	Thyroid	GTEx
rs11180483	GLIPR1L2	cis	multi-tissue	Pritchard
rs11180483	CAPS2	cis	cerebellum	SCAN
rs11180483	RP11-585P4.5	cis	Esophagus Muscularis	GTEx
rs11180483	RP11-585P4.5	cis	Nerve Tibial	GTEx
rs11180483	GLIPR1L1	cis	lymphoblastoid	seeQTL
rs11180483	GLIPR1L2	cis	Skin Sun Exposed Lower leg	GTEx
rs11180483	GLIPR1L2	cis	Stomach	GTEx
rs11180483	GLIPR1L2	cis	Heart Left Ventricle	GTEx
rs11180483	GLIPR1L2	cis	Thyroid	GTEx
rs11180483	GLIPR1L2	cis	Esophagus Muscularis	GTEx
rs11180483	GLIPR1L2	cis	Artery Tibial	GTEx
rs11180483	GLIPR1L2	cis	Nerve Tibial	GTEx
rs11180483	GLIPR1L2	cis	parietal	SCAN
rs11180483	RP11-585P4.5	cis	Muscle Skeletal	GTEx
rs11180483	GLIPR1	cis	Whole Blood	GTEx
rs11180483	KRR1	cis	cerebellum	SCAN
rs11180483	GLIPR1L2	cis	cerebellum	SCAN
rs11180483	GLIPR1L2	cis	Adipose Subcutaneous	GTEx
rs11180483	RP11-585P4.5	cis	Skin Sun Exposed Lower leg	GTEx
rs11180483	KRR1	cis	parietal	SCAN

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:75782600-75785600	Active TSS	Aorta	Aorta
2	chr12:75782800-75786200	Active TSS	Rectal Smooth Muscle	rectum
3	chr12:75783000-75785800	Active TSS	Right Atrium	heart
4	chr12:75783200-75785800	Active TSS	Colonic Mucosa	Colon
5	chr12:75783400-75785600	Active TSS	Brain Cingulate Gyrus	brain
6	chr12:75783400-75785600	Active TSS	Ovary	ovary
7	chr12:75783400-75785600	Active TSS	Psoas Muscle	Psoas
8	chr12:75783400-75785600	Active TSS	Rectal Mucosa Donor 31	rectum
9	chr12:75783400-75785600	Active TSS	Stomach Smooth Muscle	stomach
10	chr12:75783400-75785800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr12:75783400-75785800	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr12:75783600-75785400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr12:75783600-75785600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr12:75783600-75785600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr12:75783600-75785600	Active TSS	Fetal Lung	lung
16	chr12:75783600-75785600	Active TSS	HSMM	muscle
17	chr12:75783600-75785600	Active TSS	HSMMtube	muscle
18	chr12:75783600-75785800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr12:75783600-75785800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr12:75783600-75785800	Active TSS	Skeletal Muscle Female	skeletal muscle
21	chr12:75783800-75785600	Active TSS	Brain Substantia Nigra	brain
22	chr12:75784000-75785200	Active TSS	Osteobl	bone
23	chr12:75784000-75785400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr12:75784000-75785600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:75784000-75785600	Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr12:75784000-75785600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr12:75784000-75785600	Active TSS	Brain Anterior Caudate	brain
28	chr12:75784000-75785600	Active TSS	Fetal Kidney	kidney
29	chr12:75784000-75785600	Active TSS	Skeletal Muscle Male	skeletal muscle
30	chr12:75784000-75785800	Active TSS	Brain Angular Gyrus	brain
31	chr12:75784000-75786000	Active TSS	Brain Inferior Temporal Lobe	brain
32	chr12:75784200-75785400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr12:75784200-75785400	Active TSS	Stomach Mucosa	stomach
34	chr12:75784200-75785400	Active TSS	Thymus	Thymus
35	chr12:75784200-75785400	Active TSS	A549	lung
36	chr12:75784200-75785600	Active TSS	ES-I3 Cell Line	embryonic stem cell
37	chr12:75784200-75785600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr12:75784200-75785600	Active TSS	HUES6 Cell Line	embryonic stem cell
39	chr12:75784200-75785600	Active TSS	iPS-18 Cell Line	embryonic stem cell
40	chr12:75784200-75785600	Active TSS	iPS-20b Cell Line	embryonic stem cell
41	chr12:75784200-75785600	Active TSS	Muscle Satellite Cultured Cells	--
42	chr12:75784200-75785600	Active TSS	Brain Germinal Matrix	brain
43	chr12:75784200-75785600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
44	chr12:75784200-75785600	Active TSS	Fetal Brain Female	brain
45	chr12:75784200-75785600	Active TSS	Fetal Intestine Small	intestine
46	chr12:75784200-75785600	Active TSS	Fetal Stomach	stomach
47	chr12:75784200-75785600	Active TSS	NHDF-Ad	bronchial
48	chr12:75784200-75785800	Active TSS	Brain Hippocampus Middle	brain
49	chr12:75784200-75785800	Active TSS	Pancreatic Islets	Pancreatic Islet
50	chr12:75784200-75785800	Active TSS	Right Ventricle	heart

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