Variant report

Variant	rs6726184
Chromosome Location	chr2:234473017-234473018
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:234347642..234349247-chr2:234472522..234474070,2	K562	blood:
2	chr2:234393753..234400835-chr2:234472864..234476478,8	MCF-7	breast:
3	chr2:234472035..234473937-chr2:234616865..234619680,2	MCF-7	breast:
4	chr2:234472037..234477650-chr2:234599067..234602356,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000167165	Chromatin interaction
ENSG00000224814	Chromatin interaction
ENSG00000085982	Chromatin interaction

Extended variants
information (count: 111 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:107)

rs_ID	r²[population]
rs10168794	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10169180	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10177112	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10178062	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10178357	1.00[CEU][hapmap];0.85[YRI][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10183033	1.00[CEU][hapmap];0.84[YRI][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10185923	1.00[CEU][hapmap];0.85[YRI][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10193542	1.00[JPT][hapmap]
rs10198879	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10207915	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10208361	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1037451	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10803653	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs10929195	1.00[CEU][hapmap];0.85[YRI][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10929200	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10929208	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1097929	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1097930	1.00[CEU][hapmap];1.00[GIH][hapmap];0.89[MEX][hapmap];0.97[TSI][hapmap];0.95[EUR][1000 genomes]
rs1097931	1.00[CEU][hapmap];1.00[GIH][hapmap];0.89[MEX][hapmap];0.97[TSI][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11690686	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11892545	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1220430	1.00[CEU][hapmap];1.00[GIH][hapmap];0.94[LWK][hapmap];0.88[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12467878	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12473743	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12473824	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12615446	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12692193	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12692195	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13002253	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13018364	0.97[EUR][1000 genomes]
rs13384932	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13400563	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1377459	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1377461	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1453321	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs1470864	1.00[CEU][hapmap];1.00[GIH][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs1470865	0.86[MKK][hapmap];0.81[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1542325	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1542326	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1545525	1.00[CEU][hapmap];1.00[GIH][hapmap];0.94[TSI][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1597940	1.00[CEU][hapmap];0.95[GIH][hapmap];0.97[TSI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1901812	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2034675	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2124045	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2167884	1.00[CEU][hapmap];1.00[GIH][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2167885	1.00[CEU][hapmap];0.85[YRI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2602387	1.00[CEU][hapmap];0.85[YRI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2602389	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2603545	1.00[CEU][hapmap];1.00[GIH][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2603546	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2603547	1.00[CEU][hapmap];1.00[GIH][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs2924809	1.00[JPT][hapmap];0.89[EUR][1000 genomes]
rs2924811	0.88[EUR][1000 genomes]
rs2924813	0.86[EUR][1000 genomes]
rs2971861	0.89[EUR][1000 genomes]
rs2971862	0.91[EUR][1000 genomes]
rs2971863	1.00[CEU][hapmap];1.00[GIH][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.91[EUR][1000 genomes]
rs2971864	0.91[EUR][1000 genomes]
rs2971865	0.94[CEU][hapmap];1.00[CHB][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.97[TSI][hapmap];0.88[EUR][1000 genomes]
rs2971866	0.89[EUR][1000 genomes]
rs2971867	0.91[EUR][1000 genomes]
rs2971869	0.84[EUR][1000 genomes]
rs2971870	0.88[EUR][1000 genomes]
rs2971871	0.88[EUR][1000 genomes]
rs2971872	0.88[EUR][1000 genomes]
rs4047187	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4047188	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4047198	1.00[JPT][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4047199	1.00[JPT][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4233627	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4663684	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4663698	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55679565	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs59160392	0.86[EUR][1000 genomes]
rs6710645	1.00[CEU][hapmap];1.00[GIH][hapmap];0.89[MEX][hapmap];0.97[TSI][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6710772	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6716988	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6720619	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6753062	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6756068	0.80[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7422734	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7557849	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7567713	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7571288	1.00[CEU][hapmap];0.85[YRI][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7572310	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7575694	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7578898	1.00[CEU][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7599285	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7603410	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7604337	0.86[EUR][1000 genomes]
rs7724	0.89[EUR][1000 genomes]
rs838543	1.00[CEU][hapmap];1.00[GIH][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs838544	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs838545	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs838548	1.00[CEU][hapmap];0.84[YRI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs838549	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs838550	1.00[CEU][hapmap];1.00[GIH][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs838551	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs838552	1.00[CEU][hapmap];1.00[GIH][hapmap];0.89[MEX][hapmap];0.97[TSI][hapmap];0.95[EUR][1000 genomes]
rs838555	1.00[CEU][hapmap];0.85[YRI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs838557	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes]
rs838558	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs838559	0.91[EUR][1000 genomes]
rs838561	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs838562	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs860794	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs896833	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529419	chr2:234229606-234670426	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv876013	chr2:234338227-234579915	Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv428072	chr2:234393609-234624769	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
4	nsv519876	chr2:234466843-234493048	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234413000-234474200	Weak transcription	Fetal Heart	heart
2	chr2:234423200-234473400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr2:234426200-234474000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:234428800-234474400	Weak transcription	Brain Germinal Matrix	brain
5	chr2:234430200-234473800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr2:234432200-234474800	Weak transcription	Spleen	Spleen
7	chr2:234432600-234474400	Weak transcription	Colonic Mucosa	Colon
8	chr2:234437200-234474400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:234441600-234474800	Weak transcription	Gastric	stomach
10	chr2:234442400-234474400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr2:234447800-234474800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:234451200-234474200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr2:234453200-234474400	Weak transcription	Small Intestine	intestine
14	chr2:234453600-234474000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr2:234455400-234474400	Weak transcription	Brain Cingulate Gyrus	brain
16	chr2:234456600-234474000	Weak transcription	Fetal Brain Male	brain
17	chr2:234457400-234474000	Weak transcription	Rectal Smooth Muscle	rectum
18	chr2:234460600-234474000	Weak transcription	Colon Smooth Muscle	Colon
19	chr2:234461800-234474000	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr2:234463000-234474200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr2:234463200-234473400	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr2:234466000-234474000	Weak transcription	Brain Substantia Nigra	brain
23	chr2:234466000-234474600	Weak transcription	Pancreas	Pancrea
24	chr2:234466200-234474200	Weak transcription	Fetal Intestine Large	intestine
25	chr2:234466400-234474000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr2:234466400-234474200	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr2:234466400-234474400	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr2:234466400-234474400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr2:234466400-234474800	Weak transcription	Esophagus	oesophagus
30	chr2:234466600-234473400	Weak transcription	NHLF	lung
31	chr2:234466600-234474000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr2:234466600-234474000	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr2:234466600-234474000	Weak transcription	NH-A	brain
34	chr2:234466600-234474200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr2:234466600-234474200	Weak transcription	Thymus	Thymus
36	chr2:234466600-234474400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr2:234466600-234474400	Weak transcription	Aorta	Aorta
38	chr2:234466600-234474400	Weak transcription	Brain Angular Gyrus	brain
39	chr2:234466600-234474800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr2:234466800-234474400	Weak transcription	Ovary	ovary
41	chr2:234467600-234474000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr2:234467800-234474000	Weak transcription	Fetal Kidney	kidney
43	chr2:234467800-234474000	Weak transcription	Hela-S3	cervix
44	chr2:234467800-234474400	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr2:234468000-234473800	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr2:234468000-234474200	Weak transcription	Primary B cells from cord blood	blood
47	chr2:234468000-234474200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr2:234468200-234474000	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr2:234468200-234474000	Weak transcription	NHDF-Ad	bronchial
50	chr2:234468200-234474200	Weak transcription	Rectal Mucosa Donor 31	rectum

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