Variant report

Variant	rs2195116
Chromosome Location	chr2:171785428-171785429
allele	A/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	HEY1	chr2:171784521-171787271	HepG2	liver:	n/a	n/a
2	MYC	chr2:171784951-171787317	K562	blood:	n/a	n/a
3	CTCF	chr2:171785400-171785550	GM12878	blood:	n/a	chr2:171785435-171785444 chr2:171785432-171785450 chr2:171785434-171785455
4	NR3C1	chr2:171785314-171785723	A549	lung:	n/a	chr2:171785462-171785471 chr2:171785553-171785560 chr2:171785366-171785379 chr2:171785554-171785563 chr2:171785560-171785569 chr2:171785369-171785376
5	MYBL2	chr2:171784465-171787362	HepG2	liver:	n/a	n/a
6	E2F6	chr2:171784861-171786347	Hela-S3	cervix:	n/a	chr2:171785475-171785486 chr2:171785524-171785535 chr2:171785524-171785535 chr2:171785528-171785535 chr2:171785524-171785535 chr2:171785738-171785748
7	EP300	chr2:171785351-171785889	ECC-1	luminal epithelium:	n/a	chr2:171785610-171785626
8	CTCF	chr2:171785305-171785768	GM20000	blood:	n/a	chr2:171785654-171785667 chr2:171785435-171785444 chr2:171785432-171785450 chr2:171785637-171785650 chr2:171785434-171785455
9	MYC	chr2:171784606-171786203	NB4	blood:	n/a	n/a
10	CBX3	chr2:171784386-171786033	K562	blood:	n/a	n/a
11	FOSL2	chr2:171785255-171785782	A549	lung:	n/a	n/a
12	CTCF	chr2:171785264-171785956	K562	blood:	n/a	chr2:171785654-171785667 chr2:171785435-171785444 chr2:171785432-171785450 chr2:171785637-171785650 chr2:171785434-171785455
13	MAZ	chr2:171785224-171787217	K562	blood:	n/a	n/a
14	CREB1	chr2:171785371-171785824	A549	lung:	n/a	n/a
15	SIN3AK20	chr2:171785247-171785624	A549	lung:	n/a	n/a
16	EP300	chr2:171785076-171786429	SK-N-SH	brain:	n/a	chr2:171785610-171785626 chr2:171785186-171785200
17	CTCF	chr2:171785340-171785490	HEEpiC	esophagus:	n/a	chr2:171785435-171785444 chr2:171785432-171785450 chr2:171785434-171785455
18	SIN3AK20	chr2:171785259-171787173	K562	blood:	n/a	n/a
19	EP300	chr2:171785200-171785808	GM12878	blood:	n/a	chr2:171785610-171785626
20	CHD1	chr2:171785234-171787206	GM12878	blood:	n/a	n/a
21	POLR2A	chr2:171784731-171787309	GM12892	blood:	n/a	n/a
22	POLR2A	chr2:171785202-171786153	HUVEC	blood vessel:	n/a	n/a
23	KAP1	chr2:171784681-171785820	U2OS	brain:	n/a	n/a
24	FOS	chr2:171784649-171785609	MCF10A-Er-Src	breast:	n/a	n/a
25	CTCF	chr2:171785360-171785510	NB4	blood:	n/a	chr2:171785435-171785444 chr2:171785432-171785450 chr2:171785434-171785455
26	MXI1	chr2:171784891-171787490	GM12878	blood:	n/a	n/a
27	E2F6	chr2:171785225-171786148	K562	blood:	n/a	chr2:171785475-171785486 chr2:171785524-171785535 chr2:171785524-171785535 chr2:171785528-171785535 chr2:171785524-171785535 chr2:171785738-171785748
28	CTCF	chr2:171785400-171785690	GM12875	blood:	n/a	chr2:171785654-171785667 chr2:171785435-171785444 chr2:171785432-171785450 chr2:171785637-171785650 chr2:171785434-171785455
29	MYC	chr2:171784801-171785931	H1-hESC	embryonic stem cell:	n/a	n/a
30	HA-E2F1	chr2:171784742-171787123	MCF-7	breast:	n/a	chr2:171785524-171785535 chr2:171785524-171785535 chr2:171785528-171785535 chr2:171785524-171785535 chr2:171785524-171785535 chr2:171785738-171785748
31	CTCF	chr2:171785207-171785838	H1-hESC	embryonic stem cell:	n/a	chr2:171785654-171785667 chr2:171785435-171785444 chr2:171785432-171785450 chr2:171785637-171785650 chr2:171785434-171785455
32	E2F4	chr2:171785220-171785749	GM12878	blood:	n/a	chr2:171785475-171785486 chr2:171785524-171785535 chr2:171785524-171785535 chr2:171785528-171785535 chr2:171785524-171785535 chr2:171785738-171785748
33	HNF4G	chr2:171785235-171785929	HepG2	liver:	n/a	n/a
34	TAF1	chr2:171785257-171786171	K562	blood:	n/a	n/a
35	RAD21	chr2:171785200-171785663	Hela-S3	cervix:	n/a	chr2:171785305-171785318 chr2:171785433-171785452 chr2:171785434-171785448
36	POLR2A	chr2:171785163-171786004	SK-N-MC	brain:	n/a	n/a
37	YY1	chr2:171785235-171785991	SK-N-SH_RA	brain:	n/a	chr2:171785929-171785940
38	KAT2A	chr2:171785346-171785781	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr2:171785267-171786484	MCF-7	breast:	n/a	n/a
40	EP300	chr2:171784758-171785956	HepG2	liver:	n/a	chr2:171785610-171785626 chr2:171785186-171785200 chr2:171784907-171784921
41	E2F6	chr2:171785213-171786088	H1-hESC	embryonic stem cell:	n/a	chr2:171785475-171785486 chr2:171785524-171785535 chr2:171785524-171785535 chr2:171785528-171785535 chr2:171785524-171785535 chr2:171785738-171785748
42	NFIC	chr2:171785104-171785801	GM12878	blood:	n/a	n/a
43	CTCF	chr2:171785400-171785550	GM12871	blood:	n/a	chr2:171785435-171785444 chr2:171785432-171785450 chr2:171785434-171785455
44	USF1	chr2:171785216-171785923	A549	lung:	n/a	chr2:171785680-171785696 chr2:171785686-171785702
45	CTCF	chr2:171785380-171785530	AG09319	gingival:	n/a	chr2:171785435-171785444 chr2:171785432-171785450 chr2:171785434-171785455
46	CCNT2	chr2:171785265-171787026	K562	blood:	n/a	n/a
47	MYBL2	chr2:171784460-171787158	HepG2	liver:	n/a	n/a
48	EP300	chr2:171785319-171785846	T-47D	breast:	n/a	chr2:171785610-171785626
49	FOXM1	chr2:171785232-171786060	MCF-7	breast:	n/a	n/a
50	MAX	chr2:171785204-171786106	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:171784604..171786258-chr2:171809996..171812623,2	MCF-7	breast:
2	chr2:171772485..171776882-chr2:171782682..171785818,4	MCF-7	breast:
3	chr2:171784510..171786977-chr2:172014779..172017241,3	K562	blood:
4	chr12:110718337..110718860-chr2:171785368..171785982,2	Hela-S3	cervix:
5	chr2:171626807..171627736-chr2:171785217..171786089,2	K562	blood:
6	chr2:171784160..171787954-chr2:172288133..172292253,10	K562	blood:
7	chr2:171783060..171786005-chr2:216876902..216878903,2	MCF-7	breast:
8	chr2:171626961..171629009-chr2:171784250..171787377,4	K562	blood:
9	chr2:171672408..171674860-chr2:171784778..171786781,3	MCF-7	breast:
10	chr15:72765119..72766854-chr2:171784790..171787087,2	K562	blood:
11	chr2:171785240..171786018-chr2:173330491..173331047,2	MCF-7	breast:
12	chr2:171785349..171787069-chr2:172015224..172018585,4	MCF-7	breast:
13	chr2:171770723..171773648-chr2:171784124..171786319,2	K562	blood:
14	chr2:171571182..171573160-chr2:171784797..171786624,2	K562	blood:
15	chr2:171785165..171785682-chr5:179050169..179050788,2	Hela-S3	cervix:
16	chr1:28974773..28975491-chr2:171785223..171786192,2	Hela-S3	cervix:
17	chr2:171785086..171785973-chr20:30192198..30193173,2	Hela-S3	cervix:
18	chr2:171672266..171672902-chr2:171785238..171786136,2	MCF-7	breast:
19	chr2:171784119..171787322-chr2:172288781..172292051,4	MCF-7	breast:
20	chr2:171783791..171787349-chr2:172286549..172291928,9	K562	blood:
21	chr2:171785354..171787093-chr2:172289682..172291292,2	MCF-7	breast:
22	chr2:171627023..171629009-chr2:171784250..171786840,2	K562	blood:
23	chr2:171672439..171674320-chr2:171784947..171786968,2	K562	blood:
24	chr11:64645740..64646489-chr2:171785407..171786208,2	HCT-116	colon:
25	chr2:171784693..171786944-chr2:172376735..172379477,2	K562	blood:
26	chr15:65596837..65597338-chr2:171784880..171785438,2	Hela-S3	cervix:

Variant related genes	Relation type
GORASP2	TF binding region
ENSG00000115827	Chromatin interaction
ENSG00000266020	Chromatin interaction
ENSG00000169045	Chromatin interaction
ENSG00000235934	Chromatin interaction
ENSG00000200156	Chromatin interaction
ENSG00000232788	Chromatin interaction
ENSG00000128683	Chromatin interaction
ENSG00000204335	Chromatin interaction
ENSG00000174437	Chromatin interaction
ENSG00000071967	Chromatin interaction
ENSG00000110047	Chromatin interaction
ENSG00000270103	Chromatin interaction
ENSG00000198586	Chromatin interaction
ENSG00000234350	Chromatin interaction
ENSG00000261423	Chromatin interaction
ENSG00000125968	Chromatin interaction
ENSG00000115806	Chromatin interaction
ENSG00000123600	Chromatin interaction
ENSG00000239467	Chromatin interaction
ENSG00000118242	Chromatin interaction
ENSG00000166233	Chromatin interaction

Extended variants
information (count: 138 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:137)

rs_ID	r²[population]
rs10189480	1.00[CHB][hapmap]
rs10198197	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10207361	1.00[CHB][hapmap]
rs10208341	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10210883	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1025240	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap]
rs1035825	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap]
rs1035826	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs1035828	1.00[CHB][hapmap];0.87[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap]
rs1045327	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs10515934	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10803853	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10803854	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10930448	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10930449	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.81[AFR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10930453	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap]
rs10930455	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10930456	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10930457	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11686985	0.92[EUR][1000 genomes]
rs11902360	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11902369	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12471930	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12477649	0.84[CEU][hapmap]
rs12612871	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[TSI][hapmap];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12618898	0.83[CEU][hapmap]
rs12621769	0.92[EUR][1000 genomes]
rs12996518	0.86[ASN][1000 genomes]
rs12997252	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs12998296	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13002517	1.00[CHB][hapmap]
rs13003218	1.00[CHB][hapmap]
rs13004273	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs13008199	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap]
rs13010307	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13015226	0.91[ASN][1000 genomes]
rs13016705	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs13025033	0.92[EUR][1000 genomes]
rs13026662	0.80[ASN][1000 genomes]
rs13030784	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13034529	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13035460	0.91[ASN][1000 genomes]
rs13036123	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13402107	1.00[CHB][hapmap]
rs13410683	0.84[CEU][hapmap]
rs13411575	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13425247	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13427723	1.00[CHB][hapmap]
rs1344237	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap]
rs1529378	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap]
rs1529391	0.81[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];0.87[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.82[MKK][hapmap];0.87[TSI][hapmap];0.81[YRI][hapmap];0.86[ASN][1000 genomes]
rs16859050	0.96[CEU][hapmap];0.97[TSI][hapmap];0.94[EUR][1000 genomes]
rs16859066	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17281735	0.86[ASN][1000 genomes]
rs1978592	0.88[CEU][hapmap];0.87[CHD][hapmap];0.80[GIH][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap]
rs1991370	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs2033160	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap]
rs2052808	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2081715	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2098999	0.96[CEU][hapmap];0.93[EUR][1000 genomes]
rs2114738	0.80[ASN][1000 genomes]
rs2356607	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs2356608	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap]
rs2555922	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2557794	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs2557799	0.80[ASN][1000 genomes]
rs2676131	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs2676151	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs2723241	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs34342928	0.83[ASN][1000 genomes]
rs34532258	0.85[ASN][1000 genomes]
rs34911788	0.91[ASN][1000 genomes]
rs35123411	0.86[ASN][1000 genomes]
rs35230775	0.85[ASN][1000 genomes]
rs35890547	0.86[ASN][1000 genomes]
rs35987434	0.80[ASN][1000 genomes]
rs3755121	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap]
rs3755124	0.96[CEU][hapmap];0.97[TSI][hapmap];0.94[EUR][1000 genomes]
rs3755125	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs3755126	0.96[CEU][hapmap];0.94[TSI][hapmap];0.93[EUR][1000 genomes]
rs3770423	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3770428	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap]
rs3770433	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3770438	0.84[CEU][hapmap];0.85[TSI][hapmap]
rs3770440	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs3770441	0.91[ASN][1000 genomes]
rs3770442	1.00[CHD][hapmap];0.85[ASN][1000 genomes]
rs4564745	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap]
rs4667667	0.93[EUR][1000 genomes]
rs4667673	0.80[CEU][hapmap]
rs4668343	0.96[CEU][hapmap];0.93[EUR][1000 genomes]
rs4668344	0.93[EUR][1000 genomes]
rs4668345	0.93[EUR][1000 genomes]
rs4668346	0.93[EUR][1000 genomes]
rs4668349	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4668350	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4668354	0.88[CEU][hapmap]
rs4668355	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4668368	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs5028603	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6433266	0.93[EUR][1000 genomes]
rs6433267	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6433276	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap]
rs6710035	1.00[CHB][hapmap]
rs6714164	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs6714300	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6715386	0.91[ASN][1000 genomes]
rs6716127	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap]
rs6724493	0.91[ASN][1000 genomes]
rs6729847	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6730417	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap]
rs6733178	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6742797	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6754315	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6758331	1.00[CHB][hapmap]
rs6761642	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap]
rs6761759	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs6761889	1.00[CHB][hapmap]
rs71415229	0.91[ASN][1000 genomes]
rs71415232	0.86[ASN][1000 genomes]
rs731692	1.00[CHB][hapmap]
rs731693	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73976229	0.86[ASN][1000 genomes]
rs7559136	0.92[EUR][1000 genomes]
rs7560889	0.81[EUR][1000 genomes]
rs7567927	0.93[EUR][1000 genomes]
rs7570701	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7580629	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7585607	0.93[EUR][1000 genomes]
rs7587244	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs7593193	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7598194	0.89[EUR][1000 genomes]
rs7606822	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs930035	0.84[CEU][hapmap]
rs930036	0.84[CEU][hapmap]
rs964172	0.84[CEU][hapmap]
rs965518	0.80[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431801	chr2:171721493-171966493	ZNF genes & repeats Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2195116	GORASP2	cis	cerebellum	SCAN
rs2195116	SP5	cis	cerebellum	SCAN
rs2195116	TLK1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:171784400-171787000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr2:171784400-171787600	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr2:171784800-171786600	Active TSS	Brain Germinal Matrix	brain
4	chr2:171784800-171786800	Active TSS	Colon Smooth Muscle	Colon
5	chr2:171784800-171786800	Active TSS	Fetal Kidney	kidney
6	chr2:171784800-171787000	Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr2:171784800-171787400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:171784800-171787600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr2:171785000-171786400	Active TSS	Primary hematopoietic stem cells	blood
10	chr2:171785000-171786800	Active TSS	Gastric	stomach
11	chr2:171785000-171787000	Bivalent/Poised TSS	HepG2	liver
12	chr2:171785000-171787200	Active TSS	Stomach Mucosa	stomach
13	chr2:171785000-171787200	Active TSS	A549	lung
14	chr2:171785000-171787400	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr2:171785000-171787400	Active TSS	Left Ventricle	heart
16	chr2:171785200-171785600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr2:171785200-171785800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr2:171785200-171785800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr2:171785200-171785800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
20	chr2:171785200-171785800	Active TSS	Fetal Brain Female	brain
21	chr2:171785200-171786400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:171785200-171786400	Active TSS	Cortex derived primary cultured neurospheres	brain
23	chr2:171785200-171786400	Active TSS	Stomach Smooth Muscle	stomach
24	chr2:171785200-171786600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:171785200-171786600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
26	chr2:171785200-171786600	Active TSS	Liver	Liver
27	chr2:171785200-171786600	Active TSS	Brain Inferior Temporal Lobe	brain
28	chr2:171785200-171786600	Active TSS	Brain Substantia Nigra	brain
29	chr2:171785200-171786600	Active TSS	Fetal Stomach	stomach
30	chr2:171785200-171786600	Active TSS	Placenta Amnion	Placenta Amnion
31	chr2:171785200-171786600	Active TSS	Skeletal Muscle Male	skeletal muscle
32	chr2:171785200-171786800	Active TSS	H1 Cell Line	embryonic stem cell
33	chr2:171785200-171786800	Active TSS	H9 Cell Line	embryonic stem cell
34	chr2:171785200-171786800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr2:171785200-171786800	Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr2:171785200-171786800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr2:171785200-171786800	Active TSS	Aorta	Aorta
38	chr2:171785200-171786800	Active TSS	Brain Anterior Caudate	brain
39	chr2:171785200-171786800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr2:171785200-171786800	Active TSS	Fetal Intestine Large	intestine
41	chr2:171785200-171786800	Active TSS	Psoas Muscle	Psoas
42	chr2:171785200-171786800	Active TSS	Right Ventricle	heart
43	chr2:171785200-171786800	Active TSS	Dnd41	blood
44	chr2:171785200-171786800	Active TSS	K562	blood
45	chr2:171785200-171787000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr2:171785200-171787000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr2:171785200-171787000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr2:171785200-171787000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr2:171785200-171787000	Active TSS	Fetal Heart	heart
50	chr2:171785200-171787000	Active TSS	Fetal Lung	lung

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