Variant report

Variant	rs6586872
Chromosome Location	chr8:19715236-19715237
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:19709783..19712662-chr8:19713981..19716108,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs4244456	0.80[JPT][hapmap]
rs4922110	0.83[EUR][1000 genomes]
rs6586874	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890625	chr8:19368697-19799641	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv610759	chr8:19561997-20068842	Enhancers Strong transcription Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv890631	chr8:19712564-19756813	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6586872	ATP6V1B2	cis	parietal	SCAN
rs6586872	INTS10	cis	cerebellum	SCAN
rs6586872	SLC7A2	cis	cerebellum	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:19701800-19719400	Weak transcription	Fetal Heart	heart
2	chr8:19706800-19715400	Weak transcription	HepG2	liver
3	chr8:19710400-19715400	Weak transcription	Pancreas	Pancrea
4	chr8:19710400-19719600	Weak transcription	Adipose Nuclei	Adipose
5	chr8:19711400-19715800	Weak transcription	A549	lung
6	chr8:19714800-19715600	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr8:19714800-19715600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
8	chr8:19714800-19715800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:19714800-19715800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
10	chr8:19714800-19716000	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
11	chr8:19714800-19716000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr8:19714800-19716000	Enhancers	HMEC	breast
13	chr8:19715000-19715600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr8:19715000-19715600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr8:19715000-19715800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
16	chr8:19715200-19715400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
17	chr8:19715200-19715600	Enhancers	Brain Hippocampus Middle	brain
18	chr8:19715200-19715600	Weak transcription	Fetal Brain Male	brain
19	chr8:19715200-19715800	ZNF genes & repeats	Lung	lung
20	chr8:19715200-19716000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
21	chr8:19715200-19716000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr8:19715200-19716000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
23	chr8:19715200-19716200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell

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