Variant report

Variant	rs7780509
Chromosome Location	chr7:150596680-150596681
allele	A/C/G/T
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	chr7:150595860..150599286-chr7:150714310..150716664,3	K562	blood:

Variant related genes	Relation type
ENSG00000181652	Chromatin interaction
ENSG00000055118	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10249447	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10264084	0.84[CEU][hapmap];0.92[MEX][hapmap];0.95[TSI][hapmap]
rs10264535	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10264668	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10264799	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10264902	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10279036	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10279051	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10279186	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11761679	0.89[CEU][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11764238	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11767097	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11770409	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11772624	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11773715	0.91[EUR][1000 genomes]
rs12670489	0.83[CEU][hapmap];0.91[TSI][hapmap];0.87[EUR][1000 genomes]
rs12670945	0.86[EUR][1000 genomes]
rs12671154	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17173650	0.84[CEU][hapmap];0.82[YRI][hapmap];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17173651	0.84[CEU][hapmap];0.95[GIH][hapmap];0.80[LWK][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.82[YRI][hapmap];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17173652	0.84[CEU][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17258890	0.84[CEU][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2191754	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2215562	0.83[CEU][hapmap];0.91[TSI][hapmap];0.87[EUR][1000 genomes]
rs2373877	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2373879	0.84[CEU][hapmap]
rs28425705	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28670237	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28785222	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28847671	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2888686	0.84[CEU][hapmap];0.95[TSI][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2888687	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2888688	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28889269	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4618613	0.84[CEU][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62492377	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62492378	0.87[EUR][1000 genomes]
rs62492379	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62492382	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62492398	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs66781963	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs67091546	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73165563	0.84[EUR][1000 genomes]
rs73165573	0.88[EUR][1000 genomes]
rs732416	0.84[CEU][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73468653	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73468655	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs758892	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs758894	0.84[CEU][hapmap];0.84[MEX][hapmap];0.95[TSI][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs758895	0.84[CEU][hapmap];0.84[MEX][hapmap];0.95[TSI][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9918664	0.84[CEU][hapmap]

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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7780509	ABCB8	cis	parietal	SCAN

Chromatin state (count:22 , 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	chr7:150595800-150598000	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr7:150595800-150600200	Enhancers	Fetal Intestine Large	intestine
5	chr7:150595800-150600600	Weak transcription	HMEC	breast
6	chr7:150596000-150597200	Weak transcription	Colonic Mucosa	Colon
7	chr7:150596000-150597600	Weak transcription	Liver	Liver
8	chr7:150596000-150598000	Weak transcription	Fetal Heart	heart
9	chr7:150596000-150598000	Weak transcription	Right Ventricle	heart
10	chr7:150596000-150599600	Weak transcription	Hela-S3	cervix
11	chr7:150596200-150597200	Weak transcription	Duodenum Mucosa	Duodenum
12	chr7:150596200-150597800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr7:150596200-150597800	Weak transcription	Rectal Smooth Muscle	rectum
14	chr7:150596200-150598000	Weak transcription	Colon Smooth Muscle	Colon
15	chr7:150596200-150598400	Weak transcription	Brain Anterior Caudate	brain
16	chr7:150596200-150598400	Weak transcription	Fetal Brain Female	brain
17	chr7:150596200-150598600	Weak transcription	K562	blood
18	chr7:150596200-150598800	Weak transcription	Esophagus	oesophagus
19	chr7:150596200-150600600	Weak transcription	HUVEC	blood vessel
20	chr7:150596400-150596800	Weak transcription	Fetal Intestine Small	intestine
21	chr7:150596400-150598400	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr7:150596600-150597000	Weak transcription	Rectal Mucosa Donor 29	rectum

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