Variant report

Variant	rs11896729
Chromosome Location	chr2:99225645-99225646
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:127)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:99225490-99225682	A549	lung:	n/a	n/a
2	POLR2A	chr2:99223581-99226273	GM12878	blood:	n/a	n/a
3	POLR2A	chr2:99224560-99225731	MCF-7	breast:	n/a	n/a
4	HEY1	chr2:99224628-99225757	HepG2	liver:	n/a	chr2:99225561-99225576 chr2:99225031-99225046 chr2:99225602-99225617
5	POLR2A	chr2:99224537-99225750	K562	blood:	n/a	n/a
6	POLR2A	chr2:99222297-99227404	K562	blood:	n/a	n/a
7	POLR2A	chr2:99224077-99226179	GM12892	blood:	n/a	n/a
8	POLR2A	chr2:99224539-99226007	U87	brain:	n/a	n/a
9	MXI1	chr2:99224422-99226041	HepG2	liver:	n/a	n/a
10	MTA3	chr2:99223944-99225982	GM12878	blood:	n/a	n/a
11	GABPA	chr2:99225424-99225772	K562	blood:	n/a	n/a
12	RCOR1	chr2:99224719-99225694	HepG2	liver:	n/a	n/a
13	POLR2A	chr2:99224415-99226057	HUVEC	blood vessel:	n/a	n/a
14	TAF1	chr2:99225418-99225661	K562	blood:	n/a	n/a
15	POLR2A	chr2:99224272-99225752	K562	blood:	n/a	n/a
16	TBP	chr2:99225597-99225907	K562	blood:	n/a	n/a
17	CHD1	chr2:99223707-99226358	IMR90	lung:	n/a	n/a
18	POLR2A	chr2:99224535-99225931	ProgFib	skin:	n/a	n/a
19	POLR2A	chr2:99224508-99226069	NB4	blood:	n/a	n/a
20	TBP	chr2:99224479-99225838	Hela-S3	cervix:	n/a	n/a
21	UBTF	chr2:99224356-99225688	K562	blood:	n/a	n/a
22	POLR2A	chr2:99224510-99225774	Hela-S3	cervix:	n/a	n/a
23	MAZ	chr2:99224306-99226380	IMR90	lung:	n/a	n/a
24	TBP	chr2:99224321-99225841	HepG2	liver:	n/a	n/a
25	MAX	chr2:99224395-99225735	Hela-S3	cervix:	n/a	n/a
26	MXI1	chr2:99223672-99226891	IMR90	lung:	n/a	n/a
27	CTCF	chr2:99225580-99225730	AG09319	gingival:	n/a	n/a
28	POLR2A	chr2:99224557-99226208	HUVEC	blood vessel:	n/a	n/a
29	ZBTB7A	chr2:99225458-99225695	K562	blood:	n/a	n/a
30	POLR2A	chr2:99224513-99226402	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr2:99225461-99226010	PFSK-1	brain:	n/a	n/a
32	POLR2A	chr2:99222950-99226515	HepG2	liver:	n/a	n/a
33	REST	chr2:99223977-99226208	H1-neurons	neurons:	n/a	n/a
34	CTCF	chr2:99225600-99225750	HPAF	blood vessel:	n/a	n/a
35	TAF1	chr2:99224530-99226155	H1-hESC	embryonic stem cell:	n/a	n/a
36	CTCF	chr2:99225600-99225750	HCPEpiC	choroid plexus:	n/a	n/a
37	POLR2A	chr2:99224583-99225916	HUVEC	blood vessel:	n/a	n/a
38	TAF1	chr2:99224510-99225771	ECC-1	luminal epithelium:	n/a	n/a
39	RFX5	chr2:99225400-99225719	Hela-S3	cervix:	n/a	n/a
40	ZC3H11A	chr2:99224751-99225792	K562	blood:	n/a	n/a
41	POLR2A	chr2:99225543-99225931	U87	brain:	n/a	n/a
42	POLR2A	chr2:99224602-99225691	GM15510	blood:	n/a	n/a
43	POLR2A	chr2:99224382-99225718	GM19099	blood:	n/a	n/a
44	POLR2A	chr2:99224169-99226122	K562	blood:	n/a	n/a
45	POLR2A	chr2:99222591-99226334	GM12878	blood:	n/a	n/a
46	POLR2A	chr2:99224045-99226101	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr2:99224535-99225698	GM12878	blood:	n/a	n/a
48	POLR2A	chr2:99225466-99225789	ECC-1	luminal epithelium:	n/a	n/a
49	POLR2A	chr2:99224697-99226315	K562	blood:	n/a	n/a
50	CTCF	chr2:99225600-99225750	HCFaa	heart:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr16:30886003..30888293-chr2:99224487..99226412,2	MCF-7	breast:
2	chr2:99223609..99227969-chr2:99231004..99234291,6	MCF-7	breast:
3	chr2:99059903..99063646-chr2:99224086..99226361,3	MCF-7	breast:
4	chr2:99223954..99226823-chr2:99951325..99954405,3	K562	blood:
5	chr2:99059716..99061433-chr2:99224570..99226733,2	MCF-7	breast:
6	chr2:99225449..99227324-chr2:99428770..99430562,2	MCF-7	breast:
7	chr2:99221188..99224105-chr2:99225000..99227009,2	K562	blood:
8	chr2:99224071..99226436-chr8:101963267..101965171,2	MCF-7	breast:
9	chr12:42631389..42632009-chr2:99224712..99225682,3	Hela-S3	cervix:

No data

Variant related genes	Relation type
COA5	TF binding region
ENSG00000260083	Chromatin interaction
ENSG00000164924	Chromatin interaction
ENSG00000158417	Chromatin interaction
ENSG00000265991	Chromatin interaction
ENSG00000040933	Chromatin interaction
ENSG00000015153	Chromatin interaction
ENSG00000115514	Chromatin interaction
ENSG00000115446	Chromatin interaction
ENSG00000183513	Chromatin interaction

Extended variants
information (count: 168 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:166)

rs_ID	r²[population]
rs10199199	0.83[EUR][1000 genomes]
rs10496327	0.85[CEU][hapmap];0.87[CHB][hapmap];0.87[EUR][1000 genomes]
rs10514774	0.83[EUR][1000 genomes]
rs1139829	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11537554	1.00[CEU][hapmap];0.88[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.84[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.80[YRI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11884553	0.93[ASW][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.83[JPT][hapmap];0.83[MEX][hapmap];0.83[TSI][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11888595	0.87[EUR][1000 genomes]
rs11892744	0.85[CEU][hapmap];0.81[CHB][hapmap];0.97[CHD][hapmap];0.88[MEX][hapmap];0.95[TSI][hapmap];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11901568	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11902825	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12052639	0.88[EUR][1000 genomes]
rs12617721	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12618524	0.92[CHB][hapmap];0.87[EUR][1000 genomes]
rs12618769	0.83[YRI][hapmap]
rs12619665	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12622341	0.87[EUR][1000 genomes]
rs13402379	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1516085	1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1587835	0.85[CEU][hapmap];0.88[CHB][hapmap];0.83[EUR][1000 genomes]
rs17031139	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17031146	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17031905	0.86[ASW][hapmap];0.86[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];0.89[JPT][hapmap];0.85[TSI][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17032120	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17032866	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17032870	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17033136	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17033813	0.95[CEU][hapmap];0.88[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.84[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.80[YRI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17034171	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17034241	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17444095	0.86[CEU][hapmap];0.88[CHB][hapmap];0.91[CHD][hapmap];0.92[GIH][hapmap];0.85[TSI][hapmap];0.87[EUR][1000 genomes]
rs17446058	0.90[CEU][hapmap];0.88[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.84[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.80[YRI][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17502889	0.83[EUR][1000 genomes]
rs17504774	0.86[CEU][hapmap];0.88[CHB][hapmap];0.91[CHD][hapmap];0.97[GIH][hapmap];0.84[MEX][hapmap];0.85[TSI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17505088	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17505326	0.90[CEU][hapmap];0.88[CHB][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17506535	1.00[CEU][hapmap];0.88[CHB][hapmap];0.84[JPT][hapmap];0.80[YRI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17513468	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1847550	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2230388	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2276603	1.00[CEU][hapmap];0.88[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.83[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.80[YRI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2278206	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2278207	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2278208	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2278211	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2278212	0.86[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2278213	0.86[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.83[MEX][hapmap];0.85[TSI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2278214	0.86[CEU][hapmap];0.88[CHB][hapmap];0.91[CHD][hapmap];0.97[GIH][hapmap];0.85[TSI][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2309390	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3203856	0.95[CEU][hapmap];0.81[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];0.84[MEX][hapmap];0.95[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34906456	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3729568	0.86[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];0.89[JPT][hapmap];0.84[MEX][hapmap];0.87[TSI][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3754871	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3754872	1.00[ASW][hapmap];1.00[CEU][hapmap];0.88[CHB][hapmap];0.97[CHD][hapmap];0.92[GIH][hapmap];0.84[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3754875	1.00[CEU][hapmap];0.88[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.84[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.80[YRI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3754877	0.95[CEU][hapmap];0.88[CHB][hapmap];0.84[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3754878	0.95[CEU][hapmap];0.88[CHB][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];0.84[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.80[YRI][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3754879	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3754880	0.84[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3754881	0.86[ASW][hapmap];0.86[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.84[MEX][hapmap];0.87[TSI][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3754883	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3754884	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3754885	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3754886	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3754888	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3754889	0.86[EUR][1000 genomes]
rs3754890	0.88[EUR][1000 genomes]
rs3754891	0.86[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3754892	1.00[CHB][hapmap];0.81[JPT][hapmap]
rs3754893	0.84[EUR][1000 genomes]
rs3769697	0.83[YRI][hapmap]
rs3769698	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3769701	0.94[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.91[YRI][hapmap];0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3769708	0.95[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.91[YRI][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3769709	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3769712	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3769713	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3769715	0.86[CEU][hapmap];0.88[CHB][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3769716	0.85[CEU][hapmap];0.88[CHB][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3769717	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3769719	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3769723	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3769724	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3769725	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3769726	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3769727	1.00[CHB][hapmap];0.89[JPT][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3769728	0.86[CEU][hapmap];0.88[CHB][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3769729	0.86[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3769730	0.88[EUR][1000 genomes]
rs3769733	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3769734	0.88[CHB][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3769735	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3769736	0.88[EUR][1000 genomes]
rs3769737	0.86[CEU][hapmap];0.88[CHB][hapmap];0.88[CHD][hapmap];0.95[GIH][hapmap];0.84[MEX][hapmap];0.85[TSI][hapmap];0.88[EUR][1000 genomes]
rs3769738	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3769740	0.86[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.97[GIH][hapmap];0.89[JPT][hapmap];0.84[MEX][hapmap];0.87[TSI][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3769741	0.86[ASW][hapmap];0.86[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];0.89[JPT][hapmap];0.84[MEX][hapmap];0.87[TSI][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3769743	0.86[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3820941	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3820943	0.85[CEU][hapmap];0.88[CHB][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3820945	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4596026	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4599165	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4850874	0.86[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4850875	0.85[CEU][hapmap];0.88[CHB][hapmap];0.87[EUR][1000 genomes]
rs4850876	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4850877	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4850878	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4850879	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4851131	0.83[EUR][1000 genomes]
rs4851136	0.86[CEU][hapmap];0.88[CHB][hapmap];0.86[EUR][1000 genomes]
rs4851138	0.86[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap]
rs4851140	0.88[EUR][1000 genomes]
rs4851141	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4851142	0.85[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4851144	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4851145	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4851146	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55900716	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs55934321	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56091613	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56118505	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56141907	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56197140	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56232707	0.83[EUR][1000 genomes]
rs56240302	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56333112	0.82[EUR][1000 genomes]
rs56357378	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs58778964	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61180742	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6542754	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6728891	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6736755	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6753380	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6753515	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72819965	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72819970	0.83[EUR][1000 genomes]
rs72819971	0.83[EUR][1000 genomes]
rs72819972	0.83[EUR][1000 genomes]
rs72819981	0.83[EUR][1000 genomes]
rs72819996	0.86[EUR][1000 genomes]
rs72820002	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72821904	0.88[EUR][1000 genomes]
rs72821907	0.88[EUR][1000 genomes]
rs72821908	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72821920	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72821924	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72821930	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72821939	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72821943	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72821946	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72821951	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72821955	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72821956	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72821965	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72823788	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72823792	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72823794	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72823796	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72823801	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7562232	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7585747	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7585939	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7588254	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7593615	0.83[EUR][1000 genomes]
rs7595120	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs961242	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][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	nsv1013941	chr2:99116255-99317933	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv535834	chr2:99116255-99317933	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS 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	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11896729	UNC50	cis	lymphoblastoid	seeQTL
rs11896729	INPP4A	cis	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99223200-99226600	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr2:99223200-99226800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr2:99223400-99226400	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr2:99223600-99225800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr2:99223600-99226000	Active TSS	iPS-18 Cell Line	embryonic stem cell
6	chr2:99223600-99226400	Active TSS	H9 Cell Line	embryonic stem cell
7	chr2:99223600-99226400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr2:99223800-99225800	Active TSS	H1 Cell Line	embryonic stem cell
9	chr2:99223800-99225800	Active TSS	Fetal Muscle Trunk	muscle
10	chr2:99223800-99226200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr2:99223800-99226400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr2:99224000-99225800	Active TSS	Small Intestine	intestine
13	chr2:99224000-99226000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
14	chr2:99224000-99226000	Active TSS	Ovary	ovary
15	chr2:99224000-99226200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr2:99224000-99226200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr2:99224000-99226200	Active TSS	Esophagus	oesophagus
18	chr2:99224000-99226200	Active TSS	A549	lung
19	chr2:99224000-99226400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr2:99224000-99226600	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr2:99224000-99226600	Active TSS	Aorta	Aorta
22	chr2:99224000-99226800	Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr2:99224200-99225800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:99224200-99225800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr2:99224200-99225800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr2:99224200-99225800	Active TSS	Colonic Mucosa	Colon
27	chr2:99224200-99225800	Active TSS	Rectal Mucosa Donor 29	rectum
28	chr2:99224200-99225800	Active TSS	Hela-S3	cervix
29	chr2:99224200-99225800	Active TSS	HMEC	breast
30	chr2:99224200-99226000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr2:99224200-99226000	Active TSS	Fetal Intestine Large	intestine
32	chr2:99224200-99226000	Active TSS	Fetal Intestine Small	intestine
33	chr2:99224200-99226000	Active TSS	Fetal Stomach	stomach
34	chr2:99224200-99226000	Active TSS	Left Ventricle	heart
35	chr2:99224200-99226000	Active TSS	Lung	lung
36	chr2:99224200-99226000	Active TSS	Psoas Muscle	Psoas
37	chr2:99224200-99226000	Active TSS	Sigmoid Colon	Sigmoid Colon
38	chr2:99224200-99226000	Active TSS	Stomach Mucosa	stomach
39	chr2:99224200-99226000	Active TSS	GM12878-XiMat	blood
40	chr2:99224200-99226000	Bivalent/Poised TSS	HepG2	liver
41	chr2:99224200-99226000	Active TSS	Osteobl	bone
42	chr2:99224200-99226200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr2:99224200-99226200	Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr2:99224200-99226200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr2:99224200-99226200	Active TSS	Gastric	stomach
46	chr2:99224200-99226200	Active TSS	HSMM	muscle
47	chr2:99224200-99226200	Active TSS	NHDF-Ad	bronchial
48	chr2:99224200-99226200	Active TSS	NHLF	lung
49	chr2:99224200-99226600	Active TSS	Right Atrium	heart
50	chr2:99224400-99225800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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Variant report

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