Variant report

Variant	rs7306739
Chromosome Location	chr12:120511532-120511533
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:120509994..120511912-chr12:120515778..120517839,2	K562	blood:

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10744747	0.85[ASN][1000 genomes]
rs10849732	1.00[CEU][hapmap];0.86[TSI][hapmap];0.84[EUR][1000 genomes]
rs10849735	0.84[EUR][1000 genomes]
rs11064986	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11064998	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11065004	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11065014	0.94[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.96[TSI][hapmap];0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11065017	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11065018	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12310591	0.85[EUR][1000 genomes]
rs12311327	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12320072	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12422923	0.87[EUR][1000 genomes]
rs2239200	0.83[CHB][hapmap]
rs2239201	0.83[CHB][hapmap]
rs2240311	0.94[ASW][hapmap];0.84[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.96[TSI][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2393570	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2893812	0.91[CHB][hapmap];0.95[CHD][hapmap];0.82[JPT][hapmap];0.86[ASN][1000 genomes]
rs3742044	0.91[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3759399	0.94[ASN][1000 genomes]
rs3852586	1.00[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3852588	0.92[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3886910	1.00[CEU][hapmap];0.91[CHB][hapmap];0.80[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3999575	0.93[ASN][1000 genomes]
rs4105713	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4351876	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4767870	0.87[ASN][1000 genomes]
rs4767873	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4767875	0.85[EUR][1000 genomes]
rs6490278	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.82[JPT][hapmap];1.00[LWK][hapmap];0.88[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6490280	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6490281	1.00[CEU][hapmap];1.00[GIH][hapmap];0.94[MEX][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6490283	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6490284	0.88[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.98[MKK][hapmap];0.96[TSI][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7295717	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7298183	0.84[EUR][1000 genomes]
rs7300023	0.83[CHB][hapmap]
rs7302874	1.00[CEU][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];0.82[JPT][hapmap];0.81[MEX][hapmap];0.87[ASN][1000 genomes]
rs7304325	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];0.82[JPT][hapmap];0.85[LWK][hapmap];0.88[MEX][hapmap];0.95[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap]
rs7305625	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7312811	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.82[JPT][hapmap];1.00[LWK][hapmap];0.88[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7312971	0.85[EUR][1000 genomes]
rs7314959	1.00[ASW][hapmap];0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.88[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7956436	0.95[CHB][hapmap];0.82[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7958497	0.86[GIH][hapmap];0.83[ASN][1000 genomes]
rs7960725	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[LWK][hapmap];0.88[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7961738	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7962812	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.82[JPT][hapmap];1.00[LWK][hapmap];0.88[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7965829	0.83[CHB][hapmap]
rs7971249	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7977281	1.00[CEU][hapmap];0.91[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];0.82[JPT][hapmap];0.83[MEX][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7978927	0.85[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	esv3525916	chr12:120345352-120665045	Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
2	esv3525917	chr12:120345352-120665045	Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
3	nsv899554	chr12:120389613-120513625	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120486800-120512000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr12:120487800-120512200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr12:120493800-120523800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr12:120494800-120517800	Weak transcription	Lung	lung
5	chr12:120498400-120511600	Strong transcription	Primary T helper cells PMA-I stimulated	--
6	chr12:120498800-120516600	Weak transcription	Fetal Brain Male	brain
7	chr12:120499800-120516400	Weak transcription	Primary B cells from cord blood	blood
8	chr12:120502000-120523400	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr12:120502200-120516600	Weak transcription	Duodenum Mucosa	Duodenum
10	chr12:120502200-120517800	Weak transcription	Gastric	stomach
11	chr12:120502400-120523200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr12:120502400-120523400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr12:120502400-120524400	Weak transcription	Fetal Intestine Small	intestine
14	chr12:120502600-120518400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr12:120502600-120524400	Weak transcription	Brain Anterior Caudate	brain
16	chr12:120502600-120525200	Weak transcription	Spleen	Spleen
17	chr12:120502800-120514200	Weak transcription	Hela-S3	cervix
18	chr12:120503000-120517000	Weak transcription	Dnd41	blood
19	chr12:120503600-120516000	Weak transcription	Brain Hippocampus Middle	brain
20	chr12:120503800-120512000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr12:120503800-120518000	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr12:120504600-120516800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr12:120504600-120516800	Weak transcription	HMEC	breast
24	chr12:120505800-120516600	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr12:120506800-120512600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr12:120507200-120511600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr12:120507200-120512000	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr12:120507400-120514600	Weak transcription	Stomach Mucosa	stomach
29	chr12:120507400-120516800	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr12:120508400-120518200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr12:120509000-120513400	Strong transcription	Thymus	Thymus
32	chr12:120509400-120511800	Strong transcription	Primary T cells from cord blood	blood
33	chr12:120509400-120511800	Strong transcription	Fetal Thymus	thymus
34	chr12:120509400-120512400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr12:120509400-120512400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr12:120509800-120512200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr12:120509800-120514600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr12:120509800-120524600	Weak transcription	Pancreas	Pancrea
39	chr12:120510000-120514800	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr12:120510000-120524600	Weak transcription	Brain Cingulate Gyrus	brain
41	chr12:120510200-120512800	Strong transcription	Brain Angular Gyrus	brain
42	chr12:120510200-120523000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr12:120510400-120517600	Weak transcription	Fetal Brain Female	brain
44	chr12:120510400-120517800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr12:120510600-120512400	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr12:120510600-120514400	Weak transcription	Esophagus	oesophagus
47	chr12:120510600-120524600	Weak transcription	Brain Germinal Matrix	brain
48	chr12:120510800-120512000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr12:120511000-120511600	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr12:120511000-120514400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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