Variant report

Variant	rs3203856
Chromosome Location	chr2:99226021-99226022
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:46)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:46 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:99223581-99226273	GM12878	blood:	n/a	n/a
2	POLR2A	chr2:99222297-99227404	K562	blood:	n/a	n/a
3	POLR2A	chr2:99225838-99226125	ECC-1	luminal epithelium:	n/a	n/a
4	POLR2A	chr2:99224077-99226179	GM12892	blood:	n/a	n/a
5	POLR2A	chr2:99226009-99226173	HUVEC	blood vessel:	n/a	n/a
6	MXI1	chr2:99224422-99226041	HepG2	liver:	n/a	n/a
7	POLR2A	chr2:99224415-99226057	HUVEC	blood vessel:	n/a	n/a
8	CHD1	chr2:99223707-99226358	IMR90	lung:	n/a	n/a
9	POLR2A	chr2:99224508-99226069	NB4	blood:	n/a	n/a
10	MAZ	chr2:99224306-99226380	IMR90	lung:	n/a	n/a
11	MXI1	chr2:99223672-99226891	IMR90	lung:	n/a	n/a
12	POLR2A	chr2:99225776-99226047	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr2:99224557-99226208	HUVEC	blood vessel:	n/a	n/a
14	POLR2A	chr2:99224513-99226402	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr2:99222950-99226515	HepG2	liver:	n/a	n/a
16	REST	chr2:99223977-99226208	H1-neurons	neurons:	n/a	n/a
17	TAF1	chr2:99224530-99226155	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr2:99224169-99226122	K562	blood:	n/a	n/a
19	POLR2A	chr2:99222591-99226334	GM12878	blood:	n/a	n/a
20	POLR2A	chr2:99224045-99226101	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr2:99224697-99226315	K562	blood:	n/a	n/a
22	POLR2A	chr2:99224010-99226056	GM12892	blood:	n/a	n/a
23	POLR2A	chr2:99224004-99226408	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr2:99224295-99226084	K562	blood:	n/a	n/a
25	POLR2A	chr2:99225865-99226159	K562	blood:	n/a	n/a
26	POLR2A	chr2:99223020-99226264	MCF10A-Er-Src	breast:	n/a	n/a
27	RCOR1	chr2:99225858-99226169	K562	blood:	n/a	n/a
28	POLR2A	chr2:99224517-99226034	GM18505	blood:	n/a	n/a
29	SIN3A	chr2:99224135-99226138	H1-hESC	embryonic stem cell:	n/a	chr2:99225537-99225550
30	POLR2A	chr2:99223856-99226356	GM12892	blood:	n/a	n/a
31	POLR2A	chr2:99223642-99226324	HepG2	liver:	n/a	n/a
32	POLR2A	chr2:99223622-99226514	IMR90	lung:	n/a	n/a
33	POLR2A	chr2:99224720-99226173	GM12878	blood:	n/a	n/a
34	POLR2A	chr2:99224567-99226087	MCF-7	breast:	n/a	n/a
35	POLR2A	chr2:99223995-99226291	HepG2	liver:	n/a	n/a
36	TEAD4	chr2:99225486-99226095	K562	blood:	n/a	n/a
37	PML	chr2:99224339-99226066	GM12878	blood:	n/a	n/a
38	HCFC1	chr2:99224080-99226669	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr2:99224021-99226207	GM12891	blood:	n/a	n/a
40	POLR2A	chr2:99224359-99226355	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr2:99224644-99226161	K562	blood:	n/a	n/a
42	BHLHE40	chr2:99225869-99226268	K562	blood:	n/a	n/a
43	POLR2A	chr2:99224468-99226350	SK-N-MC	brain:	n/a	n/a
44	POLR2A	chr2:99224558-99226344	HUVEC	blood vessel:	n/a	n/a
45	POLR2A	chr2:99225368-99226343	K562	blood:	n/a	n/a
46	POLR2A	chr2:99224288-99226307	PBDE	blood:	n/a	n/a

No data

(count:8 , 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:

No data

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

Extended variants
information (count: 165 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:163)

rs_ID	r²[population]
rs10199199	0.82[EUR][1000 genomes]
rs10496327	0.80[CEU][hapmap];0.93[CHB][hapmap];0.88[JPT][hapmap];0.87[EUR][1000 genomes]
rs10514774	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1139829	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11537554	0.89[ASW][hapmap];0.95[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];0.84[MEX][hapmap];0.82[MKK][hapmap];0.97[TSI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11884553	0.86[CHB][hapmap];0.87[CHD][hapmap];0.95[GIH][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11888595	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11892744	0.81[CEU][hapmap];0.87[CHB][hapmap];1.00[CHD][hapmap];0.86[MKK][hapmap];0.95[TSI][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11896729	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]
rs11901568	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11902825	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12052639	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12617721	0.88[EUR][1000 genomes]
rs12618524	0.92[CHB][hapmap];0.86[JPT][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12619665	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12622341	0.87[EUR][1000 genomes]
rs13402379	0.95[CEU][hapmap];0.81[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];0.83[JPT][hapmap];0.84[MEX][hapmap];0.95[TSI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1516085	0.95[CEU][hapmap];0.94[CHD][hapmap];0.95[GIH][hapmap];0.83[JPT][hapmap];0.84[MEX][hapmap];0.95[TSI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1587835	0.81[CEU][hapmap];0.94[CHB][hapmap];0.88[JPT][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17031139	0.83[EUR][1000 genomes]
rs17031146	0.83[EUR][1000 genomes]
rs17031905	0.81[CEU][hapmap];0.81[CHB][hapmap];0.91[CHD][hapmap];0.92[GIH][hapmap];0.87[EUR][1000 genomes]
rs17032120	0.88[EUR][1000 genomes]
rs17032866	0.81[CEU][hapmap];0.81[CHB][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17032870	0.81[CEU][hapmap];0.81[CHB][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17033136	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17033813	0.90[ASW][hapmap];0.90[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];0.95[LWK][hapmap];0.84[MEX][hapmap];0.98[MKK][hapmap];0.97[TSI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17034171	0.95[CEU][hapmap];0.81[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];0.83[JPT][hapmap];0.84[MEX][hapmap];0.95[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17034241	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17444095	0.81[CEU][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];0.92[GIH][hapmap];0.88[JPT][hapmap];0.85[TSI][hapmap];0.87[EUR][1000 genomes]
rs17446058	0.89[ASW][hapmap];0.85[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];0.84[MEX][hapmap];0.82[MKK][hapmap];0.92[TSI][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17502889	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17504774	0.81[CEU][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];0.88[JPT][hapmap];0.85[TSI][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17505088	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17505326	0.85[CEU][hapmap];0.94[CHB][hapmap];0.88[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17506535	0.95[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17513468	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1847550	0.84[EUR][1000 genomes]
rs2230388	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2276603	0.89[ASW][hapmap];0.95[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];0.84[MEX][hapmap];0.82[MKK][hapmap];0.97[TSI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2278206	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2278207	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2278208	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2278211	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2278212	0.81[CEU][hapmap];0.81[CHB][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2278213	0.81[CEU][hapmap];0.88[CHB][hapmap];0.91[CHD][hapmap];0.95[GIH][hapmap];0.87[TSI][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2278214	0.81[CEU][hapmap];0.94[CHB][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];0.88[JPT][hapmap];0.85[TSI][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2309390	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34906456	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3729568	0.81[CEU][hapmap];0.81[CHB][hapmap];0.91[CHD][hapmap];0.92[GIH][hapmap];0.82[TSI][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3754871	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3754872	0.95[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];0.94[JPT][hapmap];0.84[MEX][hapmap];0.95[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3754875	1.00[ASW][hapmap];0.95[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];0.95[LWK][hapmap];0.84[MEX][hapmap];0.96[MKK][hapmap];0.97[TSI][hapmap];0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3754877	0.90[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3754878	0.89[ASW][hapmap];0.90[CEU][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];0.89[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3754879	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3754880	0.81[CHB][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3754881	0.81[CEU][hapmap];0.81[CHB][hapmap];0.91[CHD][hapmap];0.95[GIH][hapmap];0.82[TSI][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3754883	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3754884	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3754885	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3754886	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3754888	0.88[EUR][1000 genomes]
rs3754889	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3754890	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3754891	0.81[CEU][hapmap];0.81[CHB][hapmap];0.88[EUR][1000 genomes]
rs3754892	0.92[CHB][hapmap];0.87[JPT][hapmap]
rs3754893	0.85[EUR][1000 genomes]
rs3769698	0.95[CEU][hapmap];0.81[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];0.83[JPT][hapmap];0.84[MEX][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3769701	0.89[CEU][hapmap];0.81[CHB][hapmap];0.83[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3769708	0.90[CEU][hapmap];0.81[CHB][hapmap];0.83[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3769709	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3769712	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3769713	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3769715	0.81[CEU][hapmap];0.94[CHB][hapmap];0.88[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3769716	0.81[CEU][hapmap];0.94[CHB][hapmap];0.88[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3769717	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3769719	0.81[CEU][hapmap];0.81[CHB][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3769723	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3769724	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3769725	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3769726	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3769727	0.81[CHB][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3769728	0.81[CEU][hapmap];0.94[CHB][hapmap];0.88[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3769729	0.81[CEU][hapmap];0.81[CHB][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3769730	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3769733	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3769734	0.94[CHB][hapmap];0.88[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3769735	0.91[EUR][1000 genomes]
rs3769736	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3769737	0.81[CEU][hapmap];0.94[CHB][hapmap];0.91[CHD][hapmap];0.95[GIH][hapmap];0.88[JPT][hapmap];0.85[TSI][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3769738	0.88[EUR][1000 genomes]
rs3769740	0.81[CEU][hapmap];0.81[CHB][hapmap];0.89[CHD][hapmap];0.92[GIH][hapmap];0.82[TSI][hapmap];0.87[EUR][1000 genomes]
rs3769741	0.81[CEU][hapmap];0.81[CHB][hapmap];0.91[CHD][hapmap];0.92[GIH][hapmap];0.82[TSI][hapmap];0.87[EUR][1000 genomes]
rs3769743	0.81[CEU][hapmap];0.81[CHB][hapmap];0.87[EUR][1000 genomes]
rs3820941	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3820943	0.81[CEU][hapmap];0.94[CHB][hapmap];0.88[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3820945	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4596026	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4599165	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4850874	0.81[CEU][hapmap];0.81[CHB][hapmap];0.87[EUR][1000 genomes]
rs4850875	0.81[CEU][hapmap];0.94[CHB][hapmap];0.88[JPT][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4850876	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4850877	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4850878	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4850879	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4851131	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4851136	0.81[CEU][hapmap];0.94[CHB][hapmap];0.88[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4851138	0.81[CEU][hapmap];0.81[CHB][hapmap]
rs4851140	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4851141	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4851142	0.81[CEU][hapmap];0.81[CHB][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4851144	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4851145	0.95[CEU][hapmap];0.81[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];0.83[JPT][hapmap];0.84[MEX][hapmap];0.95[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4851146	0.95[CEU][hapmap];0.81[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];0.84[MEX][hapmap];0.95[TSI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55900716	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55934321	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56091613	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56118505	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56141907	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56197140	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56232707	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56240302	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs56333112	0.82[EUR][1000 genomes]
rs56357378	0.83[EUR][1000 genomes]
rs58778964	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61180742	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6728891	0.83[EUR][1000 genomes]
rs6736755	0.95[CEU][hapmap];0.81[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];0.83[JPT][hapmap];0.84[MEX][hapmap];0.95[TSI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6753380	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6753515	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72819965	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72819970	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72819971	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72819972	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72819981	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72819996	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs72820002	0.87[EUR][1000 genomes]
rs72821904	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72821907	0.89[EUR][1000 genomes]
rs72821908	0.88[EUR][1000 genomes]
rs72821920	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72821924	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72821930	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72821939	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72821943	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72821946	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72821951	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72821955	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72821956	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72821965	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72823788	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72823792	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72823794	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72823796	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72823801	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7562232	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7585747	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7585939	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7588254	0.95[CEU][hapmap];0.81[CHB][hapmap];0.97[CHD][hapmap];0.95[GIH][hapmap];0.83[JPT][hapmap];0.84[MEX][hapmap];0.95[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7593615	0.83[EUR][1000 genomes]
rs7595120	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs961242	0.84[AMR][1000 genomes];0.88[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	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
rs3203856	UNC50	cis	lymphoblastoid	seeQTL
rs3203856	UNC50	cis	multi-tissue	Pritchard

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	chr2:99223600-99226400	Active TSS	H9 Cell Line	embryonic stem cell
5	chr2:99223600-99226400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:99223800-99226200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr2:99223800-99226400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr2:99224000-99226200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:99224000-99226200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr2:99224000-99226200	Active TSS	Esophagus	oesophagus
11	chr2:99224000-99226200	Active TSS	A549	lung
12	chr2:99224000-99226400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr2:99224000-99226600	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr2:99224000-99226600	Active TSS	Aorta	Aorta
15	chr2:99224000-99226800	Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr2:99224200-99226200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr2:99224200-99226200	Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr2:99224200-99226200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr2:99224200-99226200	Active TSS	Gastric	stomach
20	chr2:99224200-99226200	Active TSS	HSMM	muscle
21	chr2:99224200-99226200	Active TSS	NHDF-Ad	bronchial
22	chr2:99224200-99226200	Active TSS	NHLF	lung
23	chr2:99224200-99226600	Active TSS	Right Atrium	heart
24	chr2:99224400-99226200	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr2:99224400-99226200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
26	chr2:99224400-99226400	Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr2:99224400-99226400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr2:99224400-99226400	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr2:99224600-99226600	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
30	chr2:99225200-99226400	Flanking Active TSS	Primary hematopoietic stem cells	blood
31	chr2:99225400-99226400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
32	chr2:99225400-99226400	Flanking Active TSS	Primary B cells from cord blood	blood
33	chr2:99225600-99226200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
34	chr2:99225600-99226200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
35	chr2:99225600-99226200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
36	chr2:99225600-99226200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr2:99225600-99226200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
38	chr2:99225600-99226200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
39	chr2:99225600-99226200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr2:99225600-99226200	Flanking Active TSS	Fetal Thymus	thymus
41	chr2:99225600-99226200	Flanking Active TSS	Dnd41	blood
42	chr2:99225600-99226400	Flanking Active TSS	Primary T cells from cord blood	blood
43	chr2:99225600-99226400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
44	chr2:99225600-99226400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr2:99225600-99226400	Flanking Active TSS	Liver	Liver
46	chr2:99225600-99226400	Flanking Active TSS	Thymus	Thymus
47	chr2:99225600-99226600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr2:99225600-99226600	Flanking Active TSS	Fetal Brain Female	brain
49	chr2:99225600-99226800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
50	chr2:99225600-99227200	Flanking Active TSS	Stomach Smooth Muscle	stomach

The 2.0 version of rSNPBase

Variant report

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