Variant report

Variant	rs2607071
Chromosome Location	chr8:95255090-95255091
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:95244367..95248911-chr8:95252094..95255731,6	MCF-7	breast:
2	chr8:95252911..95255194-chr8:95273270..95275304,2	MCF-7	breast:
3	chr8:95252636..95255137-chr8:95271154..95272846,2	MCF-7	breast:
4	chr8:95253573..95256395-chr8:95272971..95276826,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164949	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs16916666	0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17734840	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2607068	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2607069	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2607073	1.00[ASN][1000 genomes]
rs2607075	0.96[ASN][1000 genomes]
rs2613206	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2623166	0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2623168	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2623169	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3179604	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs930868	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs930870	0.96[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	nsv1024907	chr8:95188944-95296378	Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv539677	chr8:95188944-95296378	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1024893	chr8:95189085-95293557	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1022489	chr8:95212660-95273564	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv539679	chr8:95212660-95273564	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1035036	chr8:95213244-95283014	Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv831401	chr8:95218297-95393968	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95247200-95262400	Weak transcription	Gastric	stomach
2	chr8:95247800-95256800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:95248200-95262200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr8:95250400-95259400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr8:95251800-95262600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr8:95252000-95255600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr8:95252200-95255200	Enhancers	Duodenum Mucosa	Duodenum
8	chr8:95252200-95255400	Enhancers	Fetal Intestine Small	intestine
9	chr8:95252400-95255200	Enhancers	Stomach Mucosa	stomach
10	chr8:95252400-95255400	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr8:95252600-95255200	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr8:95252800-95261000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr8:95252800-95262000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr8:95252800-95262400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr8:95252800-95262400	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr8:95252800-95269200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr8:95253000-95255200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr8:95253000-95255200	Enhancers	Rectal Mucosa Donor 29	rectum
19	chr8:95253000-95255400	Enhancers	Fetal Intestine Large	intestine
20	chr8:95253000-95255400	Enhancers	HUVEC	blood vessel
21	chr8:95253200-95255400	Enhancers	HMEC	breast
22	chr8:95253200-95255400	Enhancers	Osteobl	bone
23	chr8:95253200-95272200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr8:95253400-95255200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr8:95253600-95255400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr8:95253800-95255200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr8:95253800-95255200	Enhancers	HSMM	muscle
28	chr8:95253800-95255400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr8:95254000-95255400	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr8:95254000-95256000	Weak transcription	Fetal Heart	heart
31	chr8:95254200-95255200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr8:95254200-95256600	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr8:95254200-95256800	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr8:95254200-95268600	Weak transcription	Brain Hippocampus Middle	brain
35	chr8:95254400-95255400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr8:95254400-95259800	Weak transcription	Stomach Smooth Muscle	stomach
37	chr8:95254400-95261000	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr8:95254400-95264000	Weak transcription	Small Intestine	intestine
39	chr8:95254600-95255200	Flanking Active TSS	NH-A	brain
40	chr8:95254600-95256400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr8:95254600-95256400	Weak transcription	Esophagus	oesophagus
42	chr8:95254600-95256400	Weak transcription	Right Atrium	heart
43	chr8:95254600-95256800	Weak transcription	Fetal Muscle Trunk	muscle
44	chr8:95254600-95262400	Weak transcription	Ovary	ovary
45	chr8:95254600-95262600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr8:95254600-95272200	Weak transcription	GM12878-XiMat	blood
47	chr8:95254600-95273200	Weak transcription	Fetal Lung	lung
48	chr8:95254800-95255200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr8:95254800-95255200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr8:95254800-95255400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links