Variant report

Variant	rs4870947
Chromosome Location	chr8:126615628-126615629
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:126442074..126444761-chr8:126614097..126617217,3	MCF-7	breast:
2	chr8:126441405..126444224-chr8:126614301..126619460,8	MCF-7	breast:
3	chr8:126520498..126522119-chr8:126613658..126615873,2	MCF-7	breast:
4	chr8:126615487..126618123-chr8:126620210..126621932,2	K562	blood:
5	chr8:126614837..126616782-chr8:126623338..126626219,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000173334	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10110589	0.91[CHB][hapmap];0.95[JPT][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1454617	0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1454618	0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2124038	0.91[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]

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	nsv891437	chr8:126470817-126629328	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv6377	chr8:126579620-126639253	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv38	chr8:126593465-126639253	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1015513	chr8:126602536-126618074	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126608400-126618400	Weak transcription	Colonic Mucosa	Colon
2	chr8:126608600-126619800	Weak transcription	Small Intestine	intestine
3	chr8:126608800-126617400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr8:126609600-126619800	Weak transcription	Esophagus	oesophagus
5	chr8:126611800-126622600	Enhancers	Primary B cells from peripheral blood	blood
6	chr8:126612200-126625400	Enhancers	Primary B cells from cord blood	blood
7	chr8:126613200-126621800	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr8:126613400-126619000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr8:126613600-126620600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr8:126613600-126620800	Enhancers	HMEC	breast
11	chr8:126613600-126621000	Enhancers	NHEK	skin
12	chr8:126613800-126618600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr8:126613800-126621000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr8:126614000-126617000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr8:126614200-126620000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr8:126614400-126615800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr8:126614400-126616400	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr8:126614400-126617000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr8:126614600-126617000	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr8:126614600-126617200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr8:126615000-126616800	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr8:126615000-126617800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr8:126615000-126618400	Weak transcription	Spleen	Spleen
24	chr8:126615000-126618600	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr8:126615200-126616000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr8:126615200-126616400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr8:126615200-126616600	Enhancers	GM12878-XiMat	blood
28	chr8:126615200-126618400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr8:126615400-126616400	Weak transcription	Placenta	Placenta
30	chr8:126615400-126616400	Weak transcription	Osteobl	bone
31	chr8:126615400-126618400	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr8:126615400-126618600	Weak transcription	NH-A	brain
33	chr8:126615600-126615800	Enhancers	Fetal Thymus	thymus
34	chr8:126615600-126616600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr8:126615600-126617600	Enhancers	Brain Hippocampus Middle	brain
36	chr8:126615600-126617800	Weak transcription	Hela-S3	cervix
37	chr8:126615600-126618600	Weak transcription	A549	lung
38	chr8:126615600-126620400	Weak transcription	HUVEC	blood vessel

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