Variant report

Variant	rs12594346
Chromosome Location	chr15:77671966-77671967
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:77671092..77674187-chr15:77674414..77677871,3	K562	blood:
2	chr15:77639539..77641421-chr15:77670535..77672553,2	MCF-7	breast:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11072653	1.00[CEU][hapmap]
rs11632941	1.00[CEU][hapmap]
rs11858641	1.00[CEU][hapmap]
rs1191196	1.00[CEU][hapmap]
rs12591335	0.90[CHB][hapmap];0.94[ASN][1000 genomes]
rs12594505	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1473922	1.00[CEU][hapmap]
rs16968809	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4886866	1.00[CEU][hapmap]
rs7163503	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:43 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040852	chr15:77160237-78137541	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv1045376	chr15:77354671-77801487	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv542443	chr15:77354671-77801487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	esv1832234	chr15:77451350-77694607	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv916323	chr15:77485765-78121259	Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv1051744	chr15:77511489-77679160	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	esv1830237	chr15:77535785-77694607	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv482689	chr15:77576396-77731559	Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv1040430	chr15:77584375-77676957	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	esv1836778	chr15:77608747-77694607	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	esv1795063	chr15:77628696-77697976	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	esv1801694	chr15:77658980-77673459	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	esv1803922	chr15:77659787-77673170	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	esv1794286	chr15:77660093-77673459	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
15	esv1799610	chr15:77660093-77673776	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
16	esv1801387	chr15:77660093-77673776	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
17	esv1801597	chr15:77660093-77673776	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
18	esv1802961	chr15:77660093-77673776	Genic enhancers Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
19	esv1803817	chr15:77660093-77673776	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
20	esv1796028	chr15:77660345-77673420	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
21	esv2761954	chr15:77660345-77676969	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
22	esv17840	chr15:77660974-77673898	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
23	esv1793848	chr15:77662140-77676568	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
24	esv1795034	chr15:77664889-77673459	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
25	esv1804031	chr15:77664889-77673459	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
26	esv1794292	chr15:77664889-77673776	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
27	esv1800284	chr15:77664889-77673776	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
28	esv1801957	chr15:77664889-77673776	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
29	esv1801996	chr15:77664889-77673776	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
30	esv1803767	chr15:77664889-77673776	Genic enhancers Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
31	esv1800929	chr15:77664889-77697976	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
32	nsv570132	chr15:77664901-77672777	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
33	nsv570133	chr15:77664901-77673359	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
34	esv1803365	chr15:77664901-77673459	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
35	esv1803655	chr15:77664901-77673459	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
36	nsv570134	chr15:77664901-77673459	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
37	esv1801192	chr15:77664901-77673776	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
38	nsv570135	chr15:77664901-77673776	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
39	esv1792043	chr15:77664901-77708316	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
40	nsv570137	chr15:77665547-77673359	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
41	esv1793229	chr15:77665547-77673459	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
42	nsv570138	chr15:77665848-77672118	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
43	esv1802493	chr15:77666322-77673459	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:77639800-77687000	Weak transcription	Primary B cells from cord blood	blood
2	chr15:77645800-77674000	Weak transcription	Ovary	ovary
3	chr15:77645800-77677000	Weak transcription	Right Ventricle	heart
4	chr15:77647000-77687200	Weak transcription	A549	lung
5	chr15:77648600-77685800	Weak transcription	Gastric	stomach
6	chr15:77651600-77674000	Weak transcription	Psoas Muscle	Psoas
7	chr15:77656000-77674000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr15:77656200-77676600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr15:77656400-77683200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr15:77662200-77677000	Weak transcription	NHDF-Ad	bronchial
11	chr15:77663000-77680200	Weak transcription	Osteobl	bone
12	chr15:77664600-77678200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr15:77665000-77676800	Weak transcription	Fetal Heart	heart
14	chr15:77669400-77683400	Weak transcription	Fetal Stomach	stomach
15	chr15:77669600-77673600	Weak transcription	Right Atrium	heart
16	chr15:77669800-77672400	Weak transcription	Left Ventricle	heart
17	chr15:77670200-77676600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr15:77671400-77674000	Weak transcription	Aorta	Aorta
19	chr15:77671400-77675800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr15:77671800-77673600	Enhancers	Liver	Liver
21	chr15:77671800-77677200	Weak transcription	Primary T cells from cord blood	blood

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