Variant report

Variant	rs586947
Chromosome Location	chr7:26892628-26892629
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:26892084..26894450-chr7:27169837..27172005,2	MCF-7	breast:
2	chr7:26890130..26893318-chr7:26901650..26904246,3	K562	blood:
3	chr7:26883012..26887004-chr7:26890867..26893521,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000005020	Chromatin interaction
ENSG00000197576	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10231272	0.81[ASN][1000 genomes]
rs10235427	0.81[ASN][1000 genomes]
rs10235680	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs10249383	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs10252268	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs10262797	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs10271306	0.81[ASN][1000 genomes]
rs10486480	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs10486481	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs1391805	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17323962	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs213524	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs471536	1.00[JPT][hapmap]
rs490366	0.95[CEU][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs501985	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs514043	0.86[AFR][1000 genomes]
rs534981	1.00[JPT][hapmap]
rs550141	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs564260	1.00[JPT][hapmap]
rs567124	1.00[JPT][hapmap]
rs591895	0.96[YRI][hapmap];0.87[AFR][1000 genomes]
rs592359	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs622011	1.00[JPT][hapmap]
rs636371	0.95[CEU][hapmap];1.00[JPT][hapmap];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs659131	0.81[YRI][hapmap];0.84[AFR][1000 genomes]
rs673502	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs680704	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs688039	1.00[JPT][hapmap]
rs6960091	1.00[CHB][hapmap]
rs73069515	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025538	chr7:26482342-27376045	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
2	nsv538805	chr7:26482342-27376045	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26863200-26893200	Weak transcription	A549	lung
2	chr7:26863600-26894600	Weak transcription	Fetal Intestine Large	intestine
3	chr7:26867200-26897000	Weak transcription	Lung	lung
4	chr7:26870400-26894400	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr7:26870600-26896000	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr7:26871000-26902200	Weak transcription	Dnd41	blood
7	chr7:26871600-26896000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr7:26872400-26896200	Weak transcription	Fetal Intestine Small	intestine
9	chr7:26872600-26894800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr7:26872800-26892800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr7:26875600-26896000	Weak transcription	Stomach Smooth Muscle	stomach
12	chr7:26876000-26896000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr7:26876200-26896200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr7:26877200-26894400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr7:26877200-26897000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr7:26877200-26897000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr7:26877400-26893600	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr7:26878000-26892800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr7:26878800-26893200	Weak transcription	NHLF	lung
20	chr7:26881200-26892800	Weak transcription	HMEC	breast
21	chr7:26883200-26893400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr7:26883200-26895800	Weak transcription	Adipose Nuclei	Adipose
23	chr7:26883800-26894800	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr7:26883800-26896000	Weak transcription	NHDF-Ad	bronchial
25	chr7:26884200-26893400	Weak transcription	HUVEC	blood vessel
26	chr7:26884800-26893600	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr7:26886200-26903400	Weak transcription	Spleen	Spleen
28	chr7:26886600-26893000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr7:26889800-26893600	Strong transcription	Primary neutrophils fromperipheralblood	blood
30	chr7:26890200-26892800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr7:26890200-26892800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr7:26890200-26893600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr7:26890400-26893600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr7:26890400-26894400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr7:26890600-26892800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr7:26890800-26892800	Weak transcription	NHEK	skin
37	chr7:26891000-26894200	Weak transcription	Primary B cells from cord blood	blood
38	chr7:26891200-26895000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr7:26891800-26893600	Strong transcription	Primary B cells from peripheral blood	blood
40	chr7:26892600-26893000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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