Variant report

Variant	rs7304340
Chromosome Location	chr12:64262928-64262929
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:64246806..64249435-chr12:64262805..64265409,2	K562	blood:
2	chr12:64243123..64244682-chr12:64261360..64263267,2	MCF-7	breast:
3	chr12:64262850..64264983-chr12:64404690..64407382,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs11175184	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11175185	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11175188	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11175189	1.00[ASW][hapmap];0.85[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11175197	0.96[ASN][1000 genomes]
rs11833808	0.91[CHB][hapmap];0.85[JPT][hapmap];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11835034	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12228199	1.00[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12229790	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12579795	0.89[YRI][hapmap]
rs17099866	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2335884	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35143986	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4072758	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55642517	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55655348	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55760535	0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55907605	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55930806	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56028204	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56080061	0.90[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56264182	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58424013	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59063572	0.80[EUR][1000 genomes]
rs60031756	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6581509	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6581510	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs66856673	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67401817	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67684483	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs67830727	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67880496	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs67892056	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67993208	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs68188132	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7136130	1.00[ASW][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.86[GIH][hapmap];0.85[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7294327	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7301437	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7302672	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7305893	0.80[AFR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7307108	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7308850	0.89[ASW][hapmap];0.83[CHB][hapmap];0.88[MEX][hapmap];0.83[TSI][hapmap];0.86[YRI][hapmap];0.82[ASN][1000 genomes]
rs7310327	1.00[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7310329	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7310575	0.92[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7311611	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73313479	0.81[AFR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73315321	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73315365	0.96[ASN][1000 genomes]
rs7953208	0.84[ASW][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.85[LWK][hapmap];0.88[MEX][hapmap];0.87[TSI][hapmap];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046836	chr12:63392391-64377169	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	esv2751110	chr12:63939733-64274680	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
3	nsv832442	chr12:64228071-64442771	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	esv1810729	chr12:64234926-64268005	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	n/a
5	esv1833454	chr12:64237504-64264837	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64241000-64268800	Weak transcription	Lung	lung
2	chr12:64241000-64278800	Weak transcription	Fetal Stomach	stomach
3	chr12:64243400-64263000	Weak transcription	NHEK	skin
4	chr12:64244000-64263600	Weak transcription	Fetal Lung	lung
5	chr12:64246200-64286400	Weak transcription	Fetal Brain Female	brain
6	chr12:64247800-64268200	Weak transcription	Fetal Brain Male	brain
7	chr12:64250200-64287200	Weak transcription	Aorta	Aorta
8	chr12:64256600-64263600	Weak transcription	HSMMtube	muscle
9	chr12:64256800-64263200	Weak transcription	Right Atrium	heart
10	chr12:64256800-64271400	Weak transcription	Brain Angular Gyrus	brain
11	chr12:64256800-64276600	Weak transcription	HSMM	muscle
12	chr12:64256800-64282600	Weak transcription	Gastric	stomach
13	chr12:64257000-64263600	Weak transcription	NH-A	brain
14	chr12:64257400-64263200	Weak transcription	NHDF-Ad	bronchial
15	chr12:64257400-64270600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr12:64258000-64263000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr12:64258200-64263200	Weak transcription	NHLF	lung
18	chr12:64258400-64263000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr12:64258400-64263400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr12:64258600-64263000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr12:64258600-64263000	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr12:64258800-64286200	Weak transcription	Fetal Intestine Small	intestine
23	chr12:64259000-64263000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr12:64259200-64266800	Weak transcription	Fetal Intestine Large	intestine
25	chr12:64259800-64265600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr12:64260000-64263200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr12:64260200-64263200	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr12:64260200-64263200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr12:64260200-64263400	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr12:64260200-64264600	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr12:64260400-64263400	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr12:64260400-64263400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr12:64260800-64263200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr12:64261200-64268800	Weak transcription	Stomach Mucosa	stomach
35	chr12:64262000-64263000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr12:64262200-64263600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr12:64262200-64264800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr12:64262200-64265200	Enhancers	A549	lung
39	chr12:64262400-64264200	Enhancers	Hela-S3	cervix
40	chr12:64262600-64263000	Weak transcription	Pancreas	Pancrea
41	chr12:64262600-64263400	Enhancers	Duodenum Smooth Muscle	Duodenum
42	chr12:64262600-64263800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr12:64262600-64265600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr12:64262800-64263600	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr12:64262800-64263600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr12:64262800-64263800	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr12:64262800-64264000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr12:64262800-64264000	Enhancers	HMEC	breast
49	chr12:64262800-64264000	Enhancers	Osteobl	bone

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