Variant report

Variant	rs12994869
Chromosome Location	chr2:32288478-32288479
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TAF1	chr2:32288121-32289302	ECC-1	luminal epithelium:	n/a	n/a
2	FOS	chr2:32288375-32288544	MCF10A-Er-Src	breast:	n/a	n/a
3	REST	chr2:32288159-32288945	PFSK-1	brain:	n/a	chr2:32288659-32288668 chr2:32288717-32288730 chr2:32288460-32288473
4	CEBPB	chr2:32288247-32289115	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr2:32288082-32289436	HUVEC	blood vessel:	n/a	n/a
6	SIN3A	chr2:32287661-32289852	H1-hESC	embryonic stem cell:	n/a	chr2:32288460-32288473 chr2:32288763-32288774
7	TAF1	chr2:32288234-32289272	HepG2	liver:	n/a	n/a
8	MYBL2	chr2:32288080-32289312	HepG2	liver:	n/a	n/a
9	MAX	chr2:32288071-32289329	MCF-7	breast:	n/a	chr2:32288529-32288539
10	MAZ	chr2:32287498-32289771	K562	blood:	n/a	chr2:32288529-32288539
11	YY1	chr2:32288256-32289293	ECC-1	luminal epithelium:	n/a	chr2:32288745-32288756 chr2:32288742-32288756 chr2:32289148-32289168 chr2:32288875-32288884
12	TCF12	chr2:32288317-32288675	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr2:32288126-32289258	A549	lung:	n/a	n/a
14	BACH1	chr2:32287981-32288801	H1-hESC	embryonic stem cell:	n/a	n/a
15	USF1	chr2:32288334-32288775	SK-N-SH_RA	brain:	n/a	n/a
16	REST	chr2:32287466-32289590	H1-neurons	neurons:	n/a	chr2:32289327-32289340 chr2:32288659-32288668 chr2:32288717-32288730 chr2:32288460-32288473
17	CREB1	chr2:32288261-32288916	H1-hESC	embryonic stem cell:	n/a	n/a
18	SIN3AK20	chr2:32288104-32289326	PANC-1	pancreas:	n/a	n/a
19	POLR2A	chr2:32287988-32289638	HepG2	liver:	n/a	n/a
20	ZBTB7A	chr2:32288155-32288903	HepG2	liver:	n/a	chr2:32288738-32288745
21	RELA	chr2:32288278-32288738	GM19099	blood:	n/a	n/a
22	HDAC2	chr2:32288357-32288645	K562	blood:	n/a	chr2:32288618-32288627 chr2:32288581-32288590 chr2:32288583-32288592
23	ZBTB33	chr2:32288184-32288709	A549	lung:	n/a	n/a
24	HEY1	chr2:32288226-32288950	K562	blood:	n/a	chr2:32288614-32288629 chr2:32288623-32288638 chr2:32288745-32288760
25	CTCF	chr2:32288360-32288510	WERI-Rb-1	eye:	n/a	n/a
26	POLR2A	chr2:32288223-32289322	GM12892	blood:	n/a	n/a
27	RCOR1	chr2:32288244-32288919	HepG2	liver:	n/a	n/a
28	HCFC1	chr2:32287345-32289912	Hela-S3	cervix:	n/a	n/a
29	HCFC1	chr2:32287574-32289245	K562	blood:	n/a	n/a
30	CTCF	chr2:32288007-32289811	A549	lung:	n/a	chr2:32288639-32288652 chr2:32288640-32288656 chr2:32288644-32288654 chr2:32288625-32288638 chr2:32288642-32288651 chr2:32288642-32288655 chr2:32288639-32288657
31	REST	chr2:32288196-32288836	A549	lung:	n/a	chr2:32288659-32288668 chr2:32288717-32288730 chr2:32288460-32288473
32	ZNF143	chr2:32288217-32289201	Hela-S3	cervix:	n/a	chr2:32288501-32288510 chr2:32288503-32288512 chr2:32288494-32288512
33	CBX3	chr2:32288153-32288919	K562	blood:	n/a	n/a
34	ETS1	chr2:32288208-32288679	A549	lung:	n/a	chr2:32288501-32288514 chr2:32288500-32288513 chr2:32288646-32288657
35	SIX5	chr2:32288297-32288699	K562	blood:	n/a	chr2:32288503-32288512 chr2:32288500-32288514 chr2:32288501-32288510
36	ZNF143	chr2:32288251-32288842	H1-hESC	embryonic stem cell:	n/a	chr2:32288501-32288510 chr2:32288503-32288512 chr2:32288494-32288512
37	CTCF	chr2:32288330-32288949	K562	blood:	n/a	chr2:32288639-32288652 chr2:32288640-32288656 chr2:32288644-32288654 chr2:32288625-32288638 chr2:32288642-32288651 chr2:32288642-32288655 chr2:32288639-32288657
38	STAT3	chr2:32288256-32288750	MCF10A-Er-Src	breast:	n/a	n/a
39	MYC	chr2:32288299-32288707	MCF10A-Er-Src	breast:	n/a	chr2:32288529-32288539
40	YY1	chr2:32288360-32288597	HCT-116	colon:	n/a	n/a
41	MAZ	chr2:32288024-32289302	HepG2	liver:	n/a	chr2:32288529-32288539
42	SIN3AK20	chr2:32287940-32289940	MCF-7	breast:	n/a	n/a
43	REST	chr2:32288273-32288780	GM12878	blood:	n/a	chr2:32288659-32288668 chr2:32288717-32288730 chr2:32288460-32288473
44	YY1	chr2:32288209-32288734	ECC-1	luminal epithelium:	n/a	n/a
45	BCLAF1	chr2:32288157-32288924	GM12878	blood:	n/a	chr2:32288875-32288888 chr2:32288626-32288639 chr2:32288876-32288885
46	MXI1	chr2:32288172-32289755	GM12878	blood:	n/a	n/a
47	TBP	chr2:32288327-32288796	GM12878	blood:	n/a	n/a
48	REST	chr2:32288169-32288945	PFSK-1	brain:	n/a	chr2:32288659-32288668 chr2:32288717-32288730 chr2:32288460-32288473
49	USF1	chr2:32288266-32288769	SK-N-SH_RA	brain:	n/a	n/a
50	MYC	chr2:32288407-32288794	K562	blood:	n/a	chr2:32288529-32288539

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:32288478-32288528	BJ	skin:	n/a
2	chr2:32288478-32288528	U87	brain:	n/a
3	chr2:32288478-32288528	SAEC	small airway:	n/a
4	chr2:32288444-32288494	Hela-S3	cervix:	n/a
5	chr2:32288478-32288528	GM12892	blood:	n/a
6	chr2:32288444-32288494	NH-A	brain:	n/a
7	chr2:32288478-32288528	HL-60	blood:	n/a
8	chr2:32288444-32288494	SAEC	small airway:	n/a
9	chr2:32288478-32288528	AoSMC	blood vessel:	n/a
10	chr2:32288478-32288528	CMK	blood:	n/a
11	chr2:32288444-32288494	HL-60	blood:	n/a
12	chr2:32288444-32288494	AG09319	gingival:	n/a
13	chr2:32288478-32288528	NHBE	bronchial:	n/a
14	chr2:32288478-32288528	SK-N-SH_RA	brain:	n/a
15	chr2:32288478-32288528	NH-A	brain:	n/a
16	chr2:32288444-32288494	BJ	skin:	n/a
17	chr2:32288444-32288494	GM12878	blood:	n/a
18	chr2:32288478-32288528	NB4	blood:	n/a
19	chr2:32288478-32288528	MCF-7	breast:	n/a
20	chr2:32288478-32288528	HUVEC	blood vessel:	n/a
21	chr2:32288478-32288528	ECC-1	luminal epithelium:	n/a
22	chr2:32288444-32288494	AG04449	skin:	fetal
23	chr2:32288444-32288494	NB4	blood:	n/a
24	chr2:32288478-32288528	SKMC	muscle:	n/a
25	chr2:32288444-32288494	AG04450	lung:	fetal
26	chr2:32288444-32288494	K562	blood:	n/a
27	chr2:32288478-32288528	Caco-2	colon:	n/a
28	chr2:32288478-32288528	NHDF-neo	bronchial:	n/a
29	chr2:32288444-32288494	SK-N-SH	brain:	n/a
30	chr2:32288478-32288528	AG10803	skin:	n/a
31	chr2:32288444-32288494	HUVEC	blood vessel:	n/a
32	chr2:32288444-32288494	AoSMC	blood vessel:	n/a
33	chr2:32288478-32288528	MCF10A-Er-Src	breast:	n/a
34	chr2:32288444-32288494	GM12892	blood:	n/a
35	chr2:32288444-32288494	ProgFib	skin:	n/a
36	chr2:32288444-32288494	ovcar-3	ovarian:	n/a
37	chr2:32288478-32288528	HRPEpiC	eye:	n/a
38	chr2:32288444-32288494	HPAEpiC	pulmonary alveolar:	n/a
39	chr2:32288444-32288494	PANC-1	pancreas:	n/a
40	chr2:32288478-32288528	GM12878	blood:	n/a
41	chr2:32288444-32288494	RPTEC	kidney:	n/a
42	chr2:32288444-32288494	HepG2	liver:	n/a
43	chr2:32288444-32288494	ECC-1	luminal epithelium:	n/a
44	chr2:32288444-32288494	PrEC	prostate:	n/a
45	chr2:32288444-32288494	NHDF-neo	bronchial:	n/a
46	chr2:32288478-32288528	PrEC	prostate:	n/a
47	chr2:32288478-32288528	NT2-D1	testis:	n/a
48	chr2:32288478-32288528	AG04450	lung:	fetal
49	chr2:32288444-32288494	CMK	blood:	n/a
50	chr2:32288444-32288494	GM06990	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:32286352..32290626-chr2:32388602..32393371,12	K562	blood:
2	chr2:32286363..32290764-chr2:32387862..32393371,13	K562	blood:
3	chr2:32287594..32289810-chr2:32581615..32583417,2	K562	blood:
4	chr2:32262818..32267061-chr2:32286978..32290820,6	MCF-7	breast:
5	chr2:32263531..32265848-chr2:32287148..32290470,4	K562	blood:
6	chr2:32233869..32235900-chr2:32286911..32289660,3	K562	blood:
7	chr2:32233309..32238481-chr2:32286150..32290599,7	MCF-7	breast:
8	chr2:32235889..32238860-chr2:32287017..32290574,4	MCF-7	breast:
9	chr2:32287157..32290220-chr2:32389830..32392599,3	MCF-7	breast:
10	chr2:32262396..32266546-chr2:32286416..32291415,12	K562	blood:
11	chr2:32263267..32267327-chr2:32283931..32290396,13	MCF-7	breast:
12	chr11:62608867..62609649-chr2:32288428..32288955,2	HCT-116	colon:
13	chr2:32104376..32106598-chr2:32285547..32288508,2	K562	blood:
14	chr2:32232898..32237970-chr2:32287390..32290443,5	K562	blood:
15	chr2:32287339..32289467-chr2:32389793..32392170,2	MCF-7	breast:

Variant related genes	Relation type
SPAST	TF binding region
SPAST	CpG island
ENSG00000115760	Chromatin interaction
ENSG00000271228	Chromatin interaction
ENSG00000152683	Chromatin interaction
ENSG00000162961	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000162959	Chromatin interaction
ENSG00000272716	Chromatin interaction

Extended variants
information (count: 162 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:160)

rs_ID	r²[population]
rs1005460	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1011309	0.92[ASN][1000 genomes]
rs10153899	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10490357	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10490358	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10490359	0.85[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11124273	0.85[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11884169	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11887441	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs11890763	0.82[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11893435	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11897154	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11898765	0.83[ASN][1000 genomes]
rs11899296	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11901415	0.82[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11903729	0.85[CEU][hapmap];0.86[CHB][hapmap];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12712325	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12988908	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12990358	0.85[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12992916	0.82[CEU][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12993413	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12993808	0.87[EUR][1000 genomes]
rs12994708	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12997171	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13003695	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13005816	0.82[CEU][hapmap];0.89[JPT][hapmap];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13006302	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13006751	0.82[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13007025	0.82[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13013099	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13014501	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13018592	0.82[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13021718	0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs13022518	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13022696	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13022719	0.86[CHB][hapmap];0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13024535	0.91[EUR][1000 genomes]
rs13028676	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13034714	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13034933	0.82[CEU][hapmap];0.86[EUR][1000 genomes]
rs13409437	0.91[ASN][1000 genomes]
rs13414295	0.82[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs160802	0.90[JPT][hapmap];0.91[ASN][1000 genomes]
rs17011641	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17011644	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17011673	0.82[CEU][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17011697	0.82[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17011710	0.82[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17011711	0.82[CEU][hapmap];0.86[CHB][hapmap];0.89[JPT][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17011721	0.82[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17011722	0.82[CEU][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17011740	0.82[CEU][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17011742	0.82[CEU][hapmap];0.86[EUR][1000 genomes]
rs17766509	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17817607	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17818002	0.82[CEU][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1808112	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2007608	0.83[ASN][1000 genomes]
rs2064814	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2145038	0.89[AFR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs33998544	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34056419	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34077616	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34231321	0.92[EUR][1000 genomes]
rs34246971	0.86[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs34316760	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34321580	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34369001	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34432107	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34437462	0.82[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34460762	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34492168	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34497289	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34540872	0.82[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34569213	0.92[EUR][1000 genomes]
rs34617455	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34645083	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34738692	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34776070	0.93[EUR][1000 genomes]
rs34805211	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34897620	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34970173	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34973007	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35178826	0.91[ASN][1000 genomes]
rs35179884	0.95[EUR][1000 genomes]
rs35262968	0.82[CEU][hapmap];0.86[CHB][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35382589	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35397112	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35404750	0.95[EUR][1000 genomes]
rs35502701	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35514510	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35631143	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35653492	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs36048738	0.86[EUR][1000 genomes]
rs3754837	0.82[CEU][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3769607	0.82[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3769614	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3795922	0.82[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3851309	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs56821465	0.95[EUR][1000 genomes]
rs60954094	0.82[ASN][1000 genomes]
rs62142074	0.90[ASN][1000 genomes]
rs62142076	0.91[ASN][1000 genomes]
rs6543643	0.88[ASN][1000 genomes]
rs6543644	0.85[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs66511526	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs66522244	0.91[ASN][1000 genomes]
rs66735346	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs66863308	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs66949767	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs67048620	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6712798	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6718407	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6721692	0.82[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6729580	0.82[CEU][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67335141	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6733630	0.85[CEU][hapmap];0.86[CHB][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6736930	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6739654	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6746749	0.95[EUR][1000 genomes]
rs67493880	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs67517941	0.91[EUR][1000 genomes]
rs67550529	0.88[ASN][1000 genomes]
rs67557317	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6755740	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6757121	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs6761760	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6761878	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs67780569	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67957236	0.96[EUR][1000 genomes]
rs68039196	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs68051012	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs68076008	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs71446026	0.82[EUR][1000 genomes]
rs71446027	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs71446035	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs71446040	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs71446042	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs71446044	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs71446045	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72857279	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72859088	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72860906	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72860941	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72860982	0.82[EUR][1000 genomes]
rs72861000	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7559329	0.86[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs7560472	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7560714	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7562388	0.85[CEU][hapmap];0.86[CHB][hapmap];0.95[EUR][1000 genomes]
rs7574910	0.82[CEU][hapmap];0.86[CHB][hapmap];0.86[EUR][1000 genomes]
rs7577579	0.85[CEU][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7580118	0.86[CHB][hapmap];0.90[JPT][hapmap]
rs7587341	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7591270	0.82[CEU][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7598154	0.82[CEU][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7601038	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7607030	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7607225	0.91[EUR][1000 genomes]
rs875167	0.85[CEU][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532648	chr2:31591498-32312698	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv949102	chr2:32030307-33011548	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32287000-32289600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr2:32287200-32289600	Active TSS	Duodenum Smooth Muscle	Duodenum
3	chr2:32287200-32289800	Active TSS	Ovary	ovary
4	chr2:32287200-32289800	Active TSS	Stomach Smooth Muscle	stomach
5	chr2:32287200-32290000	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr2:32287400-32289600	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr2:32287400-32289600	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr2:32287400-32289600	Active TSS	Fetal Muscle Leg	muscle
9	chr2:32287400-32289800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr2:32287400-32289800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:32287400-32289800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr2:32287400-32289800	Active TSS	Colonic Mucosa	Colon
13	chr2:32287400-32289800	Active TSS	Psoas Muscle	Psoas
14	chr2:32287400-32289800	Active TSS	Stomach Mucosa	stomach
15	chr2:32287400-32290000	Active TSS	H1 Cell Line	embryonic stem cell
16	chr2:32287400-32290000	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr2:32287400-32290000	Active TSS	Brain Angular Gyrus	brain
18	chr2:32287400-32290000	Active TSS	Brain Anterior Caudate	brain
19	chr2:32287400-32290000	Active TSS	Rectal Mucosa Donor 29	rectum
20	chr2:32287400-32290000	Active TSS	NHDF-Ad	bronchial
21	chr2:32287400-32290200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr2:32287400-32290200	Active TSS	Fetal Intestine Large	intestine
23	chr2:32287400-32290200	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr2:32287600-32288600	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
25	chr2:32287600-32289400	Active TSS	Fetal Brain Female	brain
26	chr2:32287600-32289600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr2:32287600-32289600	Active TSS	Colon Smooth Muscle	Colon
28	chr2:32287600-32289600	Active TSS	Placenta Amnion	Placenta Amnion
29	chr2:32287600-32289600	Active TSS	HSMM	muscle
30	chr2:32287600-32289800	Active TSS	H9 Cell Line	embryonic stem cell
31	chr2:32287600-32289800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr2:32287600-32289800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
33	chr2:32287600-32289800	Active TSS	Aorta	Aorta
34	chr2:32287600-32289800	Active TSS	Fetal Muscle Trunk	muscle
35	chr2:32287600-32289800	Active TSS	Left Ventricle	heart
36	chr2:32287600-32289800	Active TSS	Pancreas	Pancrea
37	chr2:32287600-32289800	Bivalent/Poised TSS	HepG2	liver
38	chr2:32287600-32290000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr2:32287600-32290000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
40	chr2:32287600-32290000	Active TSS	Thymus	Thymus
41	chr2:32287600-32290000	Active TSS	HSMMtube	muscle
42	chr2:32287600-32290200	Active TSS	Fetal Thymus	thymus
43	chr2:32287600-32290200	Active TSS	Right Ventricle	heart
44	chr2:32287800-32289400	Active TSS	Adipose Nuclei	Adipose
45	chr2:32287800-32289600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr2:32287800-32289600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr2:32287800-32289600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr2:32287800-32289600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr2:32287800-32289600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr2:32287800-32289600	Active TSS	Primary T regulatory cells fromperipheralblood	blood

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