Variant report

Variant	rs2285646
Chromosome Location	chr7:87474438-87474439
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:87472656..87475161-chr7:87505830..87507869,2	K562	blood:
2	chr7:87473487..87475616-chr7:87505352..87507758,2	MCF-7	breast:
3	chr7:87474370..87476732-chr7:87479358..87481066,2	K562	blood:

Variant related genes	Relation type
ENSG00000075303	Chromatin interaction
ENSG00000006634	Chromatin interaction

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs1015415	1.00[CEU][hapmap]
rs10215700	0.86[EUR][1000 genomes]
rs10215973	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs10226849	0.86[EUR][1000 genomes]
rs10227951	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10230718	0.86[EUR][1000 genomes]
rs10232457	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10237097	0.87[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10237201	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10238564	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10239908	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10239922	0.82[EUR][1000 genomes]
rs10244734	0.86[EUR][1000 genomes]
rs10245767	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs10246786	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10247258	0.86[EUR][1000 genomes]
rs10252990	1.00[CEU][hapmap];0.91[YRI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10253106	0.86[CEU][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10259182	0.86[EUR][1000 genomes]
rs10260007	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10264856	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10268868	0.86[EUR][1000 genomes]
rs10269158	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs10276499	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10276819	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10952899	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12532279	0.86[EUR][1000 genomes]
rs12532941	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12533477	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs12539395	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12540032	0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12540931	1.00[CEU][hapmap]
rs12669619	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13438651	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17149864	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs17150009	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2073985	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2106522	0.86[EUR][1000 genomes]
rs2157926	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2157929	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap]
rs2188527	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2188828	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2214101	0.86[EUR][1000 genomes]
rs2214106	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2285649	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2373574	0.89[EUR][1000 genomes]
rs28437979	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28449219	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28449354	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28537604	0.86[EUR][1000 genomes]
rs28546778	0.86[EUR][1000 genomes]
rs28627774	0.86[EUR][1000 genomes]
rs28642834	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28645115	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28774398	0.86[EUR][1000 genomes]
rs28831998	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58638862	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59058733	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6465117	0.86[EUR][1000 genomes]
rs6465118	0.87[CEU][hapmap]
rs6948061	0.86[EUR][1000 genomes]
rs6951067	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap]
rs6952943	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs6972098	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73706914	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73706916	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73706922	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73706924	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73706950	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7790722	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7798074	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7801337	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9655954	0.86[EUR][1000 genomes]
rs9655955	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs976602	0.86[EUR][1000 genomes]
rs992422	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv888677	chr7:86802025-87781111	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv464622	chr7:86832603-87541248	Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv607725	chr7:86832603-87541248	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv1015862	chr7:87075394-88049798	Bivalent/Poised TSS Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv1023352	chr7:87418818-88192925	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv539005	chr7:87418818-88192925	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	esv2216984	chr7:87474438-87474439	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:87455200-87486600	Weak transcription	Brain Germinal Matrix	brain
2	chr7:87458200-87478400	Weak transcription	Adipose Nuclei	Adipose
3	chr7:87458400-87478600	Weak transcription	Brain Anterior Caudate	brain
4	chr7:87458600-87480400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr7:87459200-87482400	Weak transcription	A549	lung
6	chr7:87459600-87474600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr7:87459600-87474600	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr7:87459800-87474800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr7:87459800-87478600	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr7:87459800-87480600	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr7:87460200-87478800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr7:87460400-87487200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr7:87460600-87481200	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr7:87460600-87481600	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr7:87460600-87498000	Weak transcription	Fetal Heart	heart
16	chr7:87461200-87478200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr7:87461200-87486600	Weak transcription	Psoas Muscle	Psoas
18	chr7:87461400-87486800	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr7:87461600-87481600	Weak transcription	Fetal Lung	lung
20	chr7:87462400-87474600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr7:87463400-87482600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr7:87463400-87487000	Weak transcription	Brain Hippocampus Middle	brain
23	chr7:87463800-87478600	Weak transcription	HepG2	liver
24	chr7:87464000-87488400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr7:87464600-87487800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr7:87466200-87478600	Weak transcription	NHDF-Ad	bronchial
27	chr7:87466200-87483000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr7:87466800-87487000	Weak transcription	Colon Smooth Muscle	Colon
29	chr7:87467200-87480800	Strong transcription	Primary neutrophils fromperipheralblood	blood
30	chr7:87467200-87487200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr7:87467600-87479800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr7:87467600-87481000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr7:87467600-87486600	Weak transcription	Fetal Kidney	kidney
34	chr7:87467800-87481000	Weak transcription	Hela-S3	cervix
35	chr7:87467800-87487000	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr7:87467800-87494800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr7:87468200-87475200	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr7:87468200-87487000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr7:87468400-87487200	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr7:87468800-87474600	Weak transcription	Small Intestine	intestine
41	chr7:87468800-87489600	Strong transcription	Dnd41	blood
42	chr7:87469400-87474800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr7:87469600-87477000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr7:87469800-87491000	Weak transcription	Brain Angular Gyrus	brain
45	chr7:87470200-87499600	Weak transcription	NHEK	skin
46	chr7:87470600-87478400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr7:87471000-87495600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr7:87471200-87495600	Weak transcription	Right Ventricle	heart
49	chr7:87471200-87499800	Weak transcription	NHLF	lung
50	chr7:87472200-87489200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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