Variant report

Variant	rs2395656
Chromosome Location	chr6:36662171-36662172
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	chr6:36572659..36575634-chr6:36662126..36664637,2	K562	blood:
2	chr6:36658024..36659928-chr6:36660591..36663281,3	MCF-7	breast:

Extended variants
information (count: 5 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs183541	0.86[CHB][hapmap];0.89[CHD][hapmap];0.92[GIH][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];0.91[AMR][1000 genomes]
rs236490	0.83[MEX][hapmap]

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	nsv1031191	chr6:36588974-36718015	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv538201	chr6:36588974-36718015	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv885808	chr6:36659932-36684518	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs2395656	PPIL1	cis	parietal	SCAN
rs2395656	MLN	cis	parietal	SCAN
rs2395656	ITPR3	cis	parietal	SCAN
rs2395656	RNF8	cis	parietal	SCAN
rs2395656	MOCS1	cis	parietal	SCAN

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36655000-36672000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:36655200-36669400	Weak transcription	Gastric	stomach
3	chr6:36655600-36663400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr6:36656200-36665200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:36657400-36663600	Enhancers	Primary B cells from peripheral blood	blood
6	chr6:36658800-36663200	Enhancers	Fetal Heart	heart
7	chr6:36659800-36665800	Weak transcription	Fetal Intestine Small	intestine
8	chr6:36660600-36666400	Enhancers	Primary B cells from cord blood	blood
9	chr6:36660800-36665200	Weak transcription	Primary hematopoietic stem cells	blood
10	chr6:36660800-36665200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr6:36660800-36665200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr6:36660800-36666800	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr6:36661000-36662400	Weak transcription	GM12878-XiMat	blood
14	chr6:36661000-36665200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr6:36661000-36667000	Weak transcription	Duodenum Mucosa	Duodenum
16	chr6:36661200-36664000	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr6:36661200-36664000	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr6:36661200-36664600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr6:36661200-36666000	Weak transcription	Stomach Mucosa	stomach
20	chr6:36661200-36668600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr6:36661400-36664600	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr6:36661400-36665200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr6:36661400-36665200	Weak transcription	Esophagus	oesophagus
24	chr6:36661400-36665200	Weak transcription	Spleen	Spleen
25	chr6:36661400-36696400	Weak transcription	Right Atrium	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links