Variant report

Variant	rs765483
Chromosome Location	chr7:150596308-150596309
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:150595255..150596427-chr7:150685626..150686266,3	MCF-7	breast:
2	chr7:150595334..150596475-chr7:150715020..150715911,4	K562	blood:
3	chr7:150594719..150596784-chr7:150671045..150673400,2	MCF-7	breast:
4	chr7:150595241..150596841-chr7:150652736..150654627,2	K562	blood:
5	chr7:150595118..150596336-chr7:150685225..150686536,14	K562	blood:
6	chr7:150589872..150593985-chr7:150595485..150599567,4	K562	blood:
7	chr7:150595224..150596309-chr7:150682667..150684079,9	MCF-7	breast:
8	chr7:150595709..150596608-chr7:150682983..150683767,2	MCF-7	breast:
9	chr7:150595860..150599286-chr7:150714310..150716664,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000181652	Chromatin interaction
ENSG00000055118	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12375106	1.00[GIH][hapmap];0.85[EUR][1000 genomes]
rs45503095	0.85[EUR][1000 genomes]
rs45512794	0.85[EUR][1000 genomes]
rs55765040	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60649624	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73165561	0.91[EUR][1000 genomes]
rs73165562	0.93[EUR][1000 genomes]
rs73165567	0.91[EUR][1000 genomes]
rs73165578	0.95[EUR][1000 genomes];1.00[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

No data

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	chr7:150595400-150596400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr7:150595400-150596400	Enhancers	Fetal Intestine Small	intestine
5	chr7:150595400-150596600	Enhancers	Rectal Mucosa Donor 29	rectum
6	chr7:150595800-150598000	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr7:150595800-150600200	Enhancers	Fetal Intestine Large	intestine
8	chr7:150595800-150600600	Weak transcription	HMEC	breast
9	chr7:150596000-150596600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
10	chr7:150596000-150597200	Weak transcription	Colonic Mucosa	Colon
11	chr7:150596000-150597600	Weak transcription	Liver	Liver
12	chr7:150596000-150598000	Weak transcription	Fetal Heart	heart
13	chr7:150596000-150598000	Weak transcription	Right Ventricle	heart
14	chr7:150596000-150599600	Weak transcription	Hela-S3	cervix
15	chr7:150596200-150597200	Weak transcription	Duodenum Mucosa	Duodenum
16	chr7:150596200-150597800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr7:150596200-150597800	Weak transcription	Rectal Smooth Muscle	rectum
18	chr7:150596200-150598000	Weak transcription	Colon Smooth Muscle	Colon
19	chr7:150596200-150598400	Weak transcription	Brain Anterior Caudate	brain
20	chr7:150596200-150598400	Weak transcription	Fetal Brain Female	brain
21	chr7:150596200-150598600	Weak transcription	K562	blood
22	chr7:150596200-150598800	Weak transcription	Esophagus	oesophagus
23	chr7:150596200-150600600	Weak transcription	HUVEC	blood vessel

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