Variant report

Variant	rs956642
Chromosome Location	chr7:150596502-150596503
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:150594719..150596784-chr7:150671045..150673400,2	MCF-7	breast:
2	chr7:150595241..150596841-chr7:150652736..150654627,2	K562	blood:
3	chr7:150589872..150593985-chr7:150595485..150599567,4	K562	blood:
4	chr7:150595709..150596608-chr7:150682983..150683767,2	MCF-7	breast:
5	chr7:150595860..150599286-chr7:150714310..150716664,3	K562	blood:

Variant related genes	Relation type
ENSG00000055118	Chromatin interaction
ENSG00000181652	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 7 )

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

rs_ID	r²[population]
rs10277774	0.88[CEU][hapmap];0.85[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12374823	0.80[CEU][hapmap];0.82[MEX][hapmap];0.85[AMR][1000 genomes]
rs2191753	0.85[AMR][1000 genomes]
rs4725383	0.91[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv608990	chr7:149961274-150707488	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv1017368	chr7:150016952-150655773	Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
3	nsv539195	chr7:150016952-150655773	Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
4	nsv1030109	chr7:150312916-150701010	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv967475	chr7:150323577-150610034	Enhancers Bivalent Enhancer Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	esv2758140	chr7:150538821-150663697	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	esv2759574	chr7:150538821-150663697	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv967441	chr7:150566747-150612420	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv970968	chr7:150589281-150612420	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
10	esv1821419	chr7:150593315-150974269	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs956642	ABCB8	cis	parietal	SCAN
rs956642	PLXNB3	trans	parietal	SCAN
rs956642	ABCB8	cis	cerebellum	SCAN
rs956642	ZNF786	cis	cerebellum	SCAN
rs956642	TMEM176B	cis	cerebellum	SCAN
rs956642	TMEM176B	cis	parietal	SCAN
rs956642	XRCC2	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150594000-150607400	Weak transcription	Right Atrium	heart
2	chr7:150595200-150596800	Bivalent Enhancer	Placenta	Placenta
3	chr7:150595400-150596600	Enhancers	Rectal Mucosa Donor 29	rectum
4	chr7:150595800-150598000	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr7:150595800-150600200	Enhancers	Fetal Intestine Large	intestine
6	chr7:150595800-150600600	Weak transcription	HMEC	breast
7	chr7:150596000-150596600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
8	chr7:150596000-150597200	Weak transcription	Colonic Mucosa	Colon
9	chr7:150596000-150597600	Weak transcription	Liver	Liver
10	chr7:150596000-150598000	Weak transcription	Fetal Heart	heart
11	chr7:150596000-150598000	Weak transcription	Right Ventricle	heart
12	chr7:150596000-150599600	Weak transcription	Hela-S3	cervix
13	chr7:150596200-150597200	Weak transcription	Duodenum Mucosa	Duodenum
14	chr7:150596200-150597800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr7:150596200-150597800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr7:150596200-150598000	Weak transcription	Colon Smooth Muscle	Colon
17	chr7:150596200-150598400	Weak transcription	Brain Anterior Caudate	brain
18	chr7:150596200-150598400	Weak transcription	Fetal Brain Female	brain
19	chr7:150596200-150598600	Weak transcription	K562	blood
20	chr7:150596200-150598800	Weak transcription	Esophagus	oesophagus
21	chr7:150596200-150600600	Weak transcription	HUVEC	blood vessel
22	chr7:150596400-150596800	Weak transcription	Fetal Intestine Small	intestine
23	chr7:150596400-150598400	Weak transcription	Cortex derived primary cultured neurospheres	brain

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