Variant report

Variant	rs6982810
Chromosome Location	chr8:99239963-99239964
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:99239634..99241965-chr8:99304467..99306993,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104361	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10093623	0.82[JPT][hapmap]
rs10093856	0.86[JPT][hapmap]
rs10095887	0.81[JPT][hapmap]
rs10103268	0.86[YRI][hapmap]
rs10107699	0.92[YRI][hapmap]
rs1109159	0.81[JPT][hapmap]
rs11987536	0.81[JPT][hapmap]
rs12550682	0.91[JPT][hapmap]
rs12550708	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13271095	0.91[JPT][hapmap]
rs1542289	0.85[JPT][hapmap]
rs16896802	0.82[JPT][hapmap]
rs2122930	0.92[YRI][hapmap]
rs2877460	0.81[JPT][hapmap]
rs3779721	0.81[JPT][hapmap]
rs4734394	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4735542	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6468620	0.86[JPT][hapmap]
rs6468624	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6982456	0.92[YRI][hapmap]
rs7009145	0.81[JPT][hapmap]
rs7841749	0.96[YRI][hapmap]
rs896417	0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032904	chr8:98756076-99476925	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv539687	chr8:98756076-99476925	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv831405	chr8:99095239-99260934	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv6326	chr8:99221674-99263687	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99191600-99243800	Weak transcription	Spleen	Spleen
2	chr8:99203800-99252600	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr8:99205200-99259600	Weak transcription	Duodenum Mucosa	Duodenum
4	chr8:99211200-99243200	Weak transcription	Fetal Lung	lung
5	chr8:99216600-99245400	Weak transcription	Stomach Mucosa	stomach
6	chr8:99218400-99259000	Weak transcription	Primary B cells from peripheral blood	blood
7	chr8:99226000-99248400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr8:99226200-99246400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr8:99226200-99248400	Weak transcription	HSMMtube	muscle
10	chr8:99226200-99267000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr8:99226400-99245800	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr8:99226400-99246200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr8:99226400-99246200	Weak transcription	Osteobl	bone
14	chr8:99229400-99267000	Weak transcription	Left Ventricle	heart
15	chr8:99229600-99241600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr8:99231000-99241200	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr8:99233000-99245800	Weak transcription	Rectal Smooth Muscle	rectum
18	chr8:99235400-99246000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr8:99235400-99268400	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr8:99235800-99241400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr8:99236000-99248400	Weak transcription	HMEC	breast
22	chr8:99236800-99240000	Weak transcription	Adipose Nuclei	Adipose
23	chr8:99237800-99240800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr8:99237800-99248400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr8:99238400-99241000	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr8:99238800-99240400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr8:99238800-99240400	ZNF genes & repeats	Fetal Stomach	stomach
28	chr8:99238800-99240600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
29	chr8:99238800-99240800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr8:99238800-99241000	ZNF genes & repeats	Fetal Intestine Small	intestine
31	chr8:99238800-99242800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr8:99239000-99240400	Strong transcription	Fetal Intestine Large	intestine
33	chr8:99239000-99240600	Strong transcription	Ovary	ovary
34	chr8:99239200-99241200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr8:99239200-99244000	Strong transcription	Rectal Mucosa Donor 31	rectum
36	chr8:99239400-99241600	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr8:99239400-99244600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr8:99239400-99268600	Weak transcription	Aorta	Aorta
39	chr8:99239600-99240200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr8:99239600-99240200	Strong transcription	Lung	lung
41	chr8:99239600-99240400	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr8:99239800-99240400	Strong transcription	Pancreas	Pancrea
43	chr8:99239800-99240400	Strong transcription	Stomach Smooth Muscle	stomach
44	chr8:99239800-99240600	Strong transcription	Gastric	stomach
45	chr8:99239800-99252600	Weak transcription	Esophagus	oesophagus

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