Variant report

Variant	rs3811555
Chromosome Location	chr2:99953634-99953635
allele	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	POLR2A	chr2:99953383-99954527	HL-60	blood:	n/a	n/a
2	CTCF	chr2:99953600-99953750	GM12873	blood:	n/a	n/a
3	KAP1	chr2:99952355-99953932	U2OS	brain:	n/a	n/a
4	POLR2A	chr2:99953576-99954131	SK-N-SH	brain:	n/a	n/a
5	MAZ	chr2:99953559-99954259	Hela-S3	cervix:	n/a	n/a
6	CTCF	chr2:99953620-99953770	HPAF	blood vessel:	n/a	n/a
7	EGR1	chr2:99953544-99953883	GM12878	blood:	n/a	chr2:99953831-99953840
8	TAF1	chr2:99953556-99954067	SK-N-SH	brain:	n/a	n/a
9	ZBTB7A	chr2:99953603-99954020	K562	blood:	n/a	chr2:99953719-99953728
10	CTCF	chr2:99953600-99953750	K562	blood:	n/a	n/a
11	CTCF	chr2:99953371-99954062	MCF-7	breast:	n/a	n/a
12	MAX	chr2:99953433-99954074	K562	blood:	n/a	n/a
13	ZBTB33	chr2:99953402-99954055	A549	lung:	n/a	n/a
14	MAX	chr2:99952224-99954509	ECC-1	luminal epithelium:	n/a	n/a
15	REST	chr2:99953339-99954156	A549	lung:	n/a	chr2:99953726-99953739 chr2:99953888-99953901
16	STAT5A	chr2:99952190-99954194	GM12878	blood:	n/a	chr2:99953328-99953336
17	SP2	chr2:99953489-99953956	K562	blood:	n/a	n/a
18	RAD21	chr2:99953533-99954097	HepG2	liver:	n/a	chr2:99953717-99953727
19	POLR2A	chr2:99953487-99954186	U87	brain:	n/a	n/a
20	POLR2A	chr2:99952018-99954528	Hela-S3	cervix:	n/a	n/a
21	YY1	chr2:99953527-99954107	A549	lung:	n/a	chr2:99954076-99954085 chr2:99954080-99954091
22	POLR2A	chr2:99952104-99954662	K562	blood:	n/a	n/a
23	E2F6	chr2:99952314-99954242	A549	lung:	n/a	chr2:99952426-99952433 chr2:99952561-99952570 chr2:99953831-99953840 chr2:99953904-99953914
24	REST	chr2:99953521-99953945	K562	blood:	n/a	chr2:99953726-99953739 chr2:99953888-99953901
25	HDAC2	chr2:99952466-99953969	HepG2	liver:	n/a	n/a
26	SMARCB1	chr2:99953526-99954520	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr2:99953495-99954588	GM12878	blood:	n/a	n/a
28	CREB1	chr2:99953533-99954028	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chr2:99953576-99953884	MCF-7	breast:	n/a	n/a
30	POLR2A	chr2:99953424-99954611	K562	blood:	n/a	n/a
31	NRF1	chr2:99953633-99954026	H1-hESC	embryonic stem cell:	n/a	chr2:99953830-99953841 chr2:99953830-99953844 chr2:99953827-99953841 chr2:99953830-99953841 chr2:99953832-99953841
32	SIX5	chr2:99953583-99953838	K562	blood:	n/a	n/a
33	CTCF	chr2:99953573-99953847	Medullo	brain:	n/a	n/a
34	MTA3	chr2:99952087-99954871	GM12878	blood:	n/a	n/a
35	RELA	chr2:99952243-99954064	GM18951	blood:	n/a	chr2:99953677-99953686 chr2:99953677-99953686
36	MAFK	chr2:99953525-99954057	Hela-S3	cervix:	n/a	n/a
37	ELF1	chr2:99953540-99954041	A549	lung:	n/a	chr2:99953656-99953667 chr2:99953812-99953824
38	HA-E2F1	chr2:99952219-99954603	MCF-7	breast:	n/a	chr2:99952426-99952433 chr2:99952561-99952570 chr2:99953831-99953840 chr2:99953904-99953914
39	STAT1	chr2:99953416-99954064	GM12878	blood:	n/a	n/a
40	POLR2A	chr2:99952119-99954851	GM12878	blood:	n/a	n/a
41	MAX	chr2:99952506-99954916	NB4	blood:	n/a	n/a
42	MAX	chr2:99953320-99954561	A549	lung:	n/a	n/a
43	HDAC2	chr2:99953459-99954084	HepG2	liver:	n/a	n/a
44	E2F6	chr2:99953534-99954016	K562	blood:	n/a	chr2:99953831-99953840 chr2:99953904-99953914
45	MYBL2	chr2:99952095-99954783	HepG2	liver:	n/a	n/a
46	CTCF	chr2:99953594-99953837	H1-hESC	embryonic stem cell:	n/a	n/a
47	ZBTB7A	chr2:99953569-99953906	HepG2	liver:	n/a	chr2:99953719-99953728
48	MAX	chr2:99953436-99954243	SK-N-SH	brain:	n/a	n/a
49	REST	chr2:99953534-99954086	HepG2	liver:	n/a	chr2:99953726-99953739 chr2:99953888-99953901
50	RUNX3	chr2:99952108-99954165	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:99769128..99773388-chr2:99951603..99955259,4	K562	blood:
2	chr2:99950324..99955285-chr2:100104603..100108030,8	MCF-7	breast:
3	chr2:99951055..99957153-chr2:100104418..100108530,14	K562	blood:
4	chr2:99950963..99955972-chr2:100104881..100108306,7	MCF-7	breast:
5	chr2:99796004..99796993-chr2:99952947..99953690,2	MCF-7	breast:
6	chr2:99796197..99799811-chr2:99951417..99956311,9	MCF-7	breast:
7	chr2:99951256..99955616-chr2:100104663..100107649,9	K562	blood:
8	chr2:99796467..99798602-chr2:99952178..99954116,2	K562	blood:
9	chr2:99769755..99772454-chr2:99953389..99955420,3	K562	blood:
10	chr2:99800478..99805908-chr2:99949969..99953911,6	MCF-7	breast:
11	chr2:99950906..99955641-chr2:100018668..100021744,4	MCF-7	breast:
12	chr1:161102096..161102881-chr2:99953477..99953977,2	Hela-S3	cervix:
13	chr2:99769803..99772533-chr2:99952128..99954259,2	MCF-7	breast:
14	chr2:99223954..99226823-chr2:99951325..99954405,3	K562	blood:
15	chr2:99756129..99759101-chr2:99952738..99954734,2	MCF-7	breast:
16	chr2:99952988..99953792-chr8:129086782..129087522,2	Hela-S3	cervix:
17	chr2:99796308..99800210-chr2:99949212..99956082,14	MCF-7	breast:
18	chr2:99797655..99798275-chr2:99953098..99953673,2	MCF-7	breast:

Variant related genes	Relation type
EIF5B	TF binding region
TXNDC9	TF binding region
ENSG00000185414	Chromatin interaction
ENSG00000241962	Chromatin interaction
ENSG00000273306	Chromatin interaction
ENSG00000158411	Chromatin interaction
ENSG00000135951	Chromatin interaction
ENSG00000273045	Chromatin interaction
ENSG00000183513	Chromatin interaction
ENSG00000273155	Chromatin interaction
ENSG00000135945	Chromatin interaction
ENSG00000115446	Chromatin interaction
ENSG00000144182	Chromatin interaction
ENSG00000158796	Chromatin interaction

Extended variants
information (count: 154 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:151)

rs_ID	r²[population]
rs1000409	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1011633	0.81[CHB][hapmap];0.84[JPT][hapmap]
rs10170425	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10172068	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10172752	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10173466	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10186340	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10187843	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10205985	0.85[AMR][1000 genomes]
rs10207981	0.90[JPT][hapmap]
rs1053544	0.84[JPT][hapmap]
rs10779902	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11123775	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs11123777	0.80[ASN][1000 genomes]
rs11123779	0.80[ASN][1000 genomes]
rs11123782	0.83[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[ASN][1000 genomes]
rs11123786	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11674219	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11676581	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[ASN][1000 genomes]
rs11679115	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11683651	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11685870	0.81[ASN][1000 genomes]
rs11686535	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[ASN][1000 genomes]
rs11687328	0.80[ASN][1000 genomes]
rs11687870	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11884686	0.85[JPT][hapmap]
rs11887109	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11887574	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11892441	0.85[JPT][hapmap]
rs11892472	0.84[ASN][1000 genomes]
rs11897443	0.83[ASN][1000 genomes]
rs11899745	0.81[CHB][hapmap];0.84[JPT][hapmap]
rs11902994	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12052986	0.81[ASN][1000 genomes]
rs12464535	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12464785	0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs12475639	0.83[ASN][1000 genomes]
rs12478488	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12615519	0.82[CEU][hapmap]
rs12618779	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12621141	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12623540	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13008948	0.86[ASN][1000 genomes]
rs13009884	0.81[ASN][1000 genomes]
rs13010416	0.80[ASN][1000 genomes]
rs13011240	0.81[ASN][1000 genomes]
rs13014360	0.82[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs13016182	0.81[ASN][1000 genomes]
rs13017871	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13018274	0.96[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13019192	0.84[ASN][1000 genomes]
rs13026997	0.83[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[ASN][1000 genomes]
rs13028869	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13033740	0.81[ASN][1000 genomes]
rs13384883	0.86[AMR][1000 genomes]
rs13389623	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13392042	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13394688	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13427780	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1376443	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1451243	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1584647	0.85[JPT][hapmap]
rs1584648	0.85[JPT][hapmap]
rs17022433	0.81[CHB][hapmap];0.84[JPT][hapmap]
rs17022564	0.84[ASN][1000 genomes]
rs17022629	0.85[JPT][hapmap]
rs1807985	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1825770	0.80[ASN][1000 genomes]
rs1901283	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2141908	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2242037	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[YRI][hapmap];0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2290255	0.84[JPT][hapmap]
rs2290256	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2290257	0.85[JPT][hapmap]
rs2290261	0.84[JPT][hapmap]
rs2305354	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2309585	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2309586	0.83[AMR][1000 genomes]
rs2309617	0.85[JPT][hapmap]
rs28369943	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28382954	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3087386	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3749087	0.85[JPT][hapmap]
rs3791212	0.85[JPT][hapmap]
rs3792134	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3792137	0.81[CHB][hapmap];0.89[JPT][hapmap]
rs3792142	0.81[CHB][hapmap];0.84[JPT][hapmap]
rs3792146	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3792149	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3792152	0.82[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3828316	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4143760	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs4535093	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4850899	0.80[ASN][1000 genomes]
rs4850901	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4850903	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4851200	0.95[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.82[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs4851205	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4851206	0.81[CHB][hapmap];0.84[JPT][hapmap]
rs55815229	0.84[ASN][1000 genomes]
rs55867742	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57242893	0.84[ASN][1000 genomes]
rs58086269	0.86[ASN][1000 genomes]
rs59661148	0.84[ASN][1000 genomes]
rs60294863	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs62153855	0.86[ASN][1000 genomes]
rs6542879	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6542880	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6542882	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6706607	0.83[AMR][1000 genomes]
rs6708861	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6709240	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6711977	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[ASN][1000 genomes]
rs6713792	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6714244	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6715321	0.84[JPT][hapmap]
rs6717515	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6721297	0.85[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap]
rs6722617	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs6732397	0.80[ASN][1000 genomes]
rs6734290	0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6735381	0.80[ASN][1000 genomes]
rs71413827	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs717454	0.84[JPT][hapmap]
rs7558074	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7561079	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7561616	0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.81[ASN][1000 genomes]
rs7563462	0.81[CHB][hapmap];0.85[JPT][hapmap]
rs7567674	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7570978	0.81[ASN][1000 genomes]
rs7571202	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7574135	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7579403	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7580448	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7585019	0.81[CHB][hapmap];0.84[JPT][hapmap]
rs7585721	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7586892	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7587419	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7589365	0.81[ASN][1000 genomes]
rs7591212	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7593274	0.85[JPT][hapmap]
rs7594838	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap]
rs7597141	0.85[JPT][hapmap]
rs7598629	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7601470	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7601730	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7609108	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs769105	0.81[CHB][hapmap];0.84[JPT][hapmap]
rs896248	0.82[JPT][hapmap]
rs896249	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs959929	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431424	chr2:99652682-100494682	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv874699	chr2:99898998-100010044	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv524466	chr2:99952086-100031551	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs3811555	REV1	Cis_1M	lymphoblastoid	RTeQTL
rs3811555	LIPT1	Cis_1M	lymphoblastoid	RTeQTL
rs3811555	LYG1	cis	Skin Sun Exposed Lower leg	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99950400-99956000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:99950800-99955400	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr2:99951000-99953800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr2:99951000-99953800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr2:99951000-99955600	Active TSS	HMEC	breast
6	chr2:99951200-99954000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr2:99951400-99955200	Active TSS	A549	lung
8	chr2:99951400-99955400	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr2:99951400-99955400	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr2:99951400-99956000	Active TSS	K562	blood
11	chr2:99951600-99953800	Flanking Active TSS	Primary B cells from cord blood	blood
12	chr2:99951600-99954800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:99951600-99955000	Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr2:99951600-99955000	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr2:99951600-99955000	Active TSS	Right Atrium	heart
16	chr2:99951600-99955200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:99951600-99955200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr2:99951600-99955200	Active TSS	Fetal Intestine Small	intestine
19	chr2:99951600-99955200	Active TSS	Psoas Muscle	Psoas
20	chr2:99951600-99955400	Active TSS	H1 Cell Line	embryonic stem cell
21	chr2:99951600-99955400	Active TSS	NHLF	lung
22	chr2:99951600-99958200	Active TSS	GM12878-XiMat	blood
23	chr2:99951800-99953800	Active TSS	Brain Germinal Matrix	brain
24	chr2:99951800-99954000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr2:99951800-99954800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr2:99951800-99954800	Active TSS	iPS-15b Cell Line	embryonic stem cell
27	chr2:99951800-99954800	Active TSS	Esophagus	oesophagus
28	chr2:99951800-99954800	Active TSS	Placenta Amnion	Placenta Amnion
29	chr2:99951800-99955000	Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr2:99951800-99955000	Active TSS	H9 Cell Line	embryonic stem cell
31	chr2:99951800-99955000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr2:99951800-99955000	Active TSS	Fetal Kidney	kidney
33	chr2:99951800-99955000	Active TSS	Fetal Muscle Trunk	muscle
34	chr2:99951800-99955000	Active TSS	NHEK	skin
35	chr2:99951800-99955200	Active TSS	HSMM	muscle
36	chr2:99951800-99955200	Active TSS	HSMMtube	muscle
37	chr2:99951800-99955400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr2:99951800-99955400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr2:99951800-99955400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr2:99951800-99955400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr2:99951800-99956000	Active TSS	Right Ventricle	heart
42	chr2:99952000-99954600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr2:99952000-99954800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr2:99952000-99954800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr2:99952000-99954800	Active TSS	Aorta	Aorta
46	chr2:99952000-99954800	Active TSS	Lung	lung
47	chr2:99952000-99954800	Active TSS	Ovary	ovary
48	chr2:99952000-99954800	Active TSS	Pancreas	Pancrea
49	chr2:99952000-99955000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
50	chr2:99952000-99955000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell

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