Variant report

Variant	rs3813228
Chromosome Location	chr2:74007345-74007346
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:534)
CpG islands
(count:61)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:534 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	WRNIP1	chr2:74006585-74007486	GM12878	blood:	n/a	n/a
2	MAX	chr2:74006777-74007520	ECC-1	luminal epithelium:	n/a	chr2:74007426-74007435
3	CTCF	chr2:74007182-74007477	Medullo	brain:	n/a	n/a
4	CTCF	chr2:74007260-74007410	AG04450	lung:	n/a	n/a
5	MAX	chr2:74006686-74007474	K562	blood:	n/a	chr2:74007426-74007435
6	YY1	chr2:74006998-74007479	HepG2	liver:	n/a	n/a
7	POLR2A	chr2:74006556-74007505	GM12891	blood:	n/a	n/a
8	CTCF	chr2:74007240-74007390	HBMEC	blood vessel:	n/a	n/a
9	CTCF	chr2:74007260-74007410	HMEC	breast:	n/a	n/a
10	MAX	chr2:74007112-74007427	HepG2	liver:	n/a	n/a
11	CEBPB	chr2:74007115-74007355	HepG2	liver:	n/a	n/a
12	MBD4	chr2:74006798-74007555	HepG2	liver:	n/a	n/a
13	SIN3AK20	chr2:74006608-74007431	A549	lung:	n/a	n/a
14	CTCF	chr2:74007170-74007476	Fibrobl	skin:	n/a	n/a
15	POLR2A	chr2:74006980-74007371	HepG2	liver:	n/a	n/a
16	FOXP2	chr2:74007101-74007436	PFSK-1	brain:	n/a	n/a
17	POLR2A	chr2:74006880-74007508	H1-neurons	neurons:	n/a	n/a
18	TAF1	chr2:74006890-74007540	H1-neurons	neurons:	n/a	n/a
19	CTCF	chr2:74007169-74007474	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr2:74006927-74007456	HUVEC	blood vessel:	n/a	n/a
21	POLR2A	chr2:74006762-74007532	MCF-7	breast:	n/a	n/a
22	CTCF	chr2:74007217-74007428	HepG2	liver:	n/a	n/a
23	ARID3A	chr2:74007134-74007461	K562	blood:	n/a	n/a
24	MAFK	chr2:74006758-74007593	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr2:74007011-74007382	K562	blood:	n/a	n/a
26	RAD21	chr2:74007217-74007408	K562	blood:	n/a	n/a
27	MYC	chr2:74007098-74007450	HUVEC	blood vessel:	n/a	chr2:74007426-74007435
28	POLR2A	chr2:74006932-74007371	K562	blood:	n/a	n/a
29	CTCF	chr2:74007300-74007450	HCT-116	colon:	n/a	n/a
30	MAZ	chr2:74006955-74007515	K562	blood:	n/a	chr2:74007426-74007435
31	TBP	chr2:74006829-74007410	HepG2	liver:	n/a	n/a
32	CTCF	chr2:74007280-74007430	HFF-Myc	foreskin:	n/a	n/a
33	CTCF	chr2:74007240-74007390	GM12872	blood:	n/a	n/a
34	CTCF	chr2:74007179-74007463	Lung_OC	lung:	n/a	n/a
35	JUND	chr2:74007175-74007434	HepG2	liver:	n/a	chr2:74007283-74007294
36	CTCF	chr2:74007182-74007466	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr2:74006559-74007404	IMR90	lung:	n/a	n/a
38	SMC3	chr2:74006643-74007656	SK-N-SH	brain:	n/a	n/a
39	POLR2A	chr2:74006835-74007511	HL-60	blood:	n/a	n/a
40	CTCF	chr2:74007240-74007390	GM12878	blood:	n/a	n/a
41	BRCA1	chr2:74007079-74007455	HepG2	liver:	n/a	n/a
42	ELF1	chr2:74006997-74007495	A549	lung:	n/a	n/a
43	CTCF	chr2:74007165-74007474	NHEK	skin:	n/a	n/a
44	POLR2A	chr2:74006794-74007383	GM12878	blood:	n/a	n/a
45	CTCF	chr2:74007159-74007474	GM12891	blood:	n/a	n/a
46	CTCF	chr2:74007240-74007390	GM12873	blood:	n/a	n/a
47	TAF1	chr2:74006669-74007460	A549	lung:	n/a	n/a
48	TBP	chr2:74006567-74007554	Hela-S3	cervix:	n/a	n/a
49	CTCF	chr2:74007081-74007486	A549	lung:	n/a	n/a
50	CTCF	chr2:74007260-74007410	SK-N-SH_RA	brain:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:74007324-74007374	MCF10A-Er-Src	breast:	n/a
2	chr2:74007324-74007374	HAEpiC	amniotic membrane:	n/a
3	chr2:74007324-74007374	HMEC	breast:	n/a
4	chr2:74007324-74007374	GM06990	blood:	n/a
5	chr2:74007324-74007374	HL-60	blood:	n/a
6	chr2:74007324-74007374	GM19239	blood:	n/a
7	chr2:74007324-74007374	AG10803	skin:	n/a
8	chr2:74007324-74007374	IMR90	lung:	fetal
9	chr2:74007324-74007374	BE2_C	brain:	n/a
10	chr2:74007324-74007374	HIPEpiC	eye:	n/a
11	chr2:74007324-74007374	PANC-1	pancreas:	n/a
12	chr2:74007324-74007374	HCF	heart:	n/a
13	chr2:74007324-74007374	Caco-2	colon:	n/a
14	chr2:74007324-74007374	HCPEpiC	choroid plexus:	n/a
15	chr2:74007324-74007374	AG09319	gingival:	n/a
16	chr2:74007324-74007374	Hepatocyte	liver:	n/a
17	chr2:74007324-74007374	HepG2	liver:	n/a
18	chr2:74007324-74007374	BJ	skin:	n/a
19	chr2:74007324-74007374	CMK	blood:	n/a
20	chr2:74007324-74007374	Jurkat	blood:	n/a
21	chr2:74007324-74007374	SAEC	small airway:	n/a
22	chr2:74007324-74007374	PrEC	prostate:	n/a
23	chr2:74007324-74007374	SK-N-MC	brain:	n/a
24	chr2:74007324-74007374	U87	brain:	n/a
25	chr2:74007324-74007374	HUVEC	blood vessel:	n/a
26	chr2:74007324-74007374	GM12891	blood:	n/a
27	chr2:74007324-74007374	LNCaP	prostate:	n/a
28	chr2:74007324-74007374	NB4	blood:	n/a
29	chr2:74007324-74007374	ovcar-3	ovarian:	n/a
30	chr2:74007324-74007374	NHDF-neo	bronchial:	n/a
31	chr2:74007324-74007374	NT2-D1	testis:	n/a
32	chr2:74007324-74007374	NHBE	bronchial:	n/a
33	chr2:74007324-74007374	ECC-1	luminal epithelium:	n/a
34	chr2:74007324-74007374	HCT-116	colon:	n/a
35	chr2:74007324-74007374	Hela-S3	cervix:	n/a
36	chr2:74007324-74007374	K562	blood:	n/a
37	chr2:74007324-74007374	T-47D	breast:	n/a
38	chr2:74007324-74007374	AG04450	lung:	fetal
39	chr2:74007324-74007374	H1-hESC	embryonic stem cell:	embryo
40	chr2:74007324-74007374	SK-N-SH_RA	brain:	n/a
41	chr2:74007324-74007374	HPAEpiC	pulmonary alveolar:	n/a
42	chr2:74007324-74007374	ProgFib	skin:	n/a
43	chr2:74007324-74007374	GM12892	blood:	n/a
44	chr2:74007324-74007374	AG04449	skin:	fetal
45	chr2:74007324-74007374	RPTEC	kidney:	n/a
46	chr2:74007324-74007374	GM12878	blood:	n/a
47	chr2:74007324-74007374	HCM	heart:	n/a
48	chr2:74007324-74007374	MCF-7	breast:	n/a
49	chr2:74007324-74007374	HRPEpiC	eye:	n/a
50	chr2:74007324-74007374	NH-A	brain:	n/a

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:74006723..74007498-chr2:86668036..86668909,2	Hela-S3	cervix:
2	chr2:73963771..73965386-chr2:74005336..74008448,3	MCF-7	breast:
3	chr2:74004444..74007409-chr2:74053786..74057952,3	K562	blood:
4	chr15:65588082..65588674-chr2:74006742..74007364,2	NB4	blood:
5	chr2:73964502..73966089-chr2:74005861..74007990,2	MCF-7	breast:
6	chr2:74003041..74008140-chr2:74055591..74058388,4	MCF-7	breast:
7	chr2:74005698..74008068-chr2:74153454..74156032,2	K562	blood:
8	chr11:61128877..61129641-chr2:74006964..74007920,2	HCT-116	colon:
9	chr2:73983484..73986212-chr2:74007345..74009528,2	K562	blood:

No data

Variant related genes	Relation type
C2orf78	TF binding region
DUSP11	TF binding region
DUSP11	CpG island
C2orf78	CpG island
ENSG00000115548	Chromatin interaction
ENSG00000149483	Chromatin interaction
ENSG00000114956	Chromatin interaction
ENSG00000162144	Chromatin interaction
ENSG00000199568	Chromatin interaction
ENSG00000144034	Chromatin interaction
ENSG00000124356	Chromatin interaction

Extended variants
information (count: 104 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:96)

rs_ID	r²[population]
rs10172044	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10191988	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10193032	0.83[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.88[TSI][hapmap];0.96[ASN][1000 genomes]
rs10203740	0.91[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10208995	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11126414	0.83[CEU][hapmap];1.00[GIH][hapmap];0.91[MEX][hapmap];0.85[TSI][hapmap];0.84[AMR][1000 genomes]
rs11126415	0.87[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11126416	0.96[CEU][hapmap];0.81[CHB][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11126417	0.96[CEU][hapmap];0.90[GIH][hapmap];0.95[TSI][hapmap];0.93[EUR][1000 genomes]
rs11891140	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11892172	0.95[CEU][hapmap];0.85[CHB][hapmap];0.93[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11894953	0.96[CEU][hapmap];0.81[CHB][hapmap];0.83[CHD][hapmap];0.97[GIH][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12052539	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12053242	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12233112	0.83[CEU][hapmap]
rs12233115	0.84[AMR][1000 genomes]
rs12615807	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12619258	0.83[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes]
rs12624267	0.89[ASW][hapmap];0.96[CEU][hapmap];0.81[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.87[LWK][hapmap];0.92[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12713789	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12713790	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12713791	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12713793	0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12713794	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12713795	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12713797	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12713798	0.96[CEU][hapmap];0.81[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12992607	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12997568	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12998980	0.83[CEU][hapmap];0.82[AMR][1000 genomes]
rs13000788	0.80[AMR][1000 genomes]
rs13003035	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13005729	0.80[AMR][1000 genomes]
rs13006598	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13013228	0.80[AMR][1000 genomes]
rs13017182	0.84[GIH][hapmap]
rs13020517	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13031853	0.80[AMR][1000 genomes]
rs13033744	0.94[ASW][hapmap];0.95[CEU][hapmap];0.81[CHB][hapmap];1.00[GIH][hapmap];0.91[LWK][hapmap];0.96[MEX][hapmap];0.94[MKK][hapmap];0.97[TSI][hapmap];0.89[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13383097	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17009372	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs17350125	0.87[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17350188	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17434634	0.82[AMR][1000 genomes]
rs17434655	0.83[AMR][1000 genomes]
rs1806683	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1815028	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2001436	0.87[CEU][hapmap];0.83[AMR][1000 genomes]
rs2001490	0.83[CEU][hapmap];0.83[AMR][1000 genomes]
rs2006997	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2116367	0.96[CEU][hapmap];0.81[CHB][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2272051	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2272178	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2421557	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2421558	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2421559	1.00[CEU][hapmap];0.81[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2421574	0.92[GIH][hapmap];0.81[TSI][hapmap]
rs2421672	0.91[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2421674	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2421675	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2421676	0.84[ASW][hapmap];0.96[CEU][hapmap];0.81[CHB][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap];0.82[YRI][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2421677	0.89[EUR][1000 genomes]
rs2462127	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35498419	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35767294	0.80[AMR][1000 genomes]
rs35791379	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3980695	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4241257	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4358149	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4513320	0.80[AMR][1000 genomes]
rs4852316	0.85[EUR][1000 genomes]
rs4852975	0.83[CEU][hapmap];1.00[GIH][hapmap];0.83[MEX][hapmap];0.85[TSI][hapmap]
rs4852976	0.87[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.90[TSI][hapmap];0.87[EUR][1000 genomes]
rs4852977	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4852978	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6732812	0.82[AMR][1000 genomes]
rs6745560	0.82[GIH][hapmap]
rs6748233	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6749841	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6750494	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6750515	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6750877	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6755500	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7210	0.96[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.93[TSI][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs732778	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7368570	0.81[AMR][1000 genomes]
rs7370393	0.81[AMR][1000 genomes]
rs7558546	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7591112	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7597302	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7599453	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7606947	0.92[GIH][hapmap];0.87[MEX][hapmap];0.81[TSI][hapmap]
rs891695	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs891696	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9309475	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9309476	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[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	nsv428051	chr2:73717032-74030067	ZNF genes & repeats Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	esv2757806	chr2:73717032-74078592	Active TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	esv2759060	chr2:73717032-74078592	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv1013385	chr2:73822056-74041441	Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv834260	chr2:73906106-74076520	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv1000675	chr2:73919185-74038946	Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv2780	chr2:73994168-74057248	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	esv1828210	chr2:74005068-74038451	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs3813228	ALMS1	Cis_1M	lymphoblastoid	RTeQTL
rs3813228	TPRKB	Cis_1M	lymphoblastoid	RTeQTL
rs3813228	ALMS1P	cis	parietal	SCAN
rs3813228	DUSP11	cis	cerebellum	SCAN
rs3813228	DUSP11	cis	parietal	SCAN
rs3813228	ALMS1	cis	cerebellum	SCAN
rs3813228	ALMS1	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74004800-74007400	Active TSS	GM12878-XiMat	blood
2	chr2:74005200-74007600	Active TSS	NHLF	lung
3	chr2:74005400-74007400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:74005400-74007600	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr2:74005400-74007600	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr2:74005400-74007600	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr2:74005600-74007400	Active TSS	H9 Cell Line	embryonic stem cell
8	chr2:74005600-74007400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:74005600-74007400	Active TSS	iPS-18 Cell Line	embryonic stem cell
10	chr2:74005600-74007400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr2:74005600-74007400	Active TSS	Lung	lung
12	chr2:74005600-74007600	Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr2:74005600-74007600	Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr2:74005600-74007600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:74005600-74007600	Active TSS	Psoas Muscle	Psoas
16	chr2:74005600-74007600	Active TSS	HSMMtube	muscle
17	chr2:74005800-74007400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:74005800-74007400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr2:74005800-74007400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr2:74005800-74007400	Active TSS	HMEC	breast
21	chr2:74005800-74007400	Active TSS	HSMM	muscle
22	chr2:74005800-74007400	Active TSS	NHEK	skin
23	chr2:74005800-74007600	Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr2:74005800-74007600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr2:74005800-74007600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr2:74005800-74007600	Active TSS	Fetal Kidney	kidney
27	chr2:74005800-74007600	Active TSS	Ovary	ovary
28	chr2:74005800-74007600	Active TSS	Rectal Smooth Muscle	rectum
29	chr2:74005800-74007600	Active TSS	Thymus	Thymus
30	chr2:74005800-74007600	Active TSS	K562	blood
31	chr2:74005800-74007800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr2:74005800-74007800	Active TSS	iPS-15b Cell Line	embryonic stem cell
33	chr2:74005800-74007800	Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr2:74006000-74007400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr2:74006000-74007400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr2:74006000-74007400	Active TSS	Esophagus	oesophagus
37	chr2:74006000-74007400	Active TSS	A549	lung
38	chr2:74006000-74007400	Active TSS	NHDF-Ad	bronchial
39	chr2:74006000-74007400	Active TSS	Osteobl	bone
40	chr2:74006000-74007600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr2:74006000-74007600	Active TSS	Muscle Satellite Cultured Cells	--
42	chr2:74006000-74007600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr2:74006000-74007600	Active TSS	Brain Cingulate Gyrus	brain
44	chr2:74006000-74007600	Active TSS	Brain Germinal Matrix	brain
45	chr2:74006000-74007600	Active TSS	Brain Inferior Temporal Lobe	brain
46	chr2:74006000-74007600	Active TSS	Colonic Mucosa	Colon
47	chr2:74006000-74007600	Active TSS	Duodenum Smooth Muscle	Duodenum
48	chr2:74006000-74007600	Active TSS	Right Ventricle	heart
49	chr2:74006000-74007600	Active TSS	Hela-S3	cervix
50	chr2:74006200-74007400	Active TSS	H1 Cell Line	embryonic stem cell

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