Variant report

Variant	rs2396551
Chromosome Location	chr7:112135488-112135489
allele	A/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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:111381523..111382478-chr7:112135251..112136853,11	K562	blood:
2	chr7:112120566..112122134-chr7:112133962..112136266,2	MCF-7	breast:
3	chr7:112131612..112134582-chr7:112135231..112138012,2	K562	blood:
4	chr7:112090285..112091878-chr7:112134715..112136966,2	K562	blood:
5	chr7:112089150..112090788-chr7:112134779..112137087,2	MCF-7	breast:
6	chr7:112120534..112121048-chr7:112135418..112136166,2	MCF-7	breast:
7	chr7:112134757..112136693-chr7:112137784..112140752,2	K562	blood:
8	chr7:112025626..112027691-chr7:112134133..112136855,2	K562	blood:
9	chr7:112134584..112136693-chr7:112137323..112139687,3	K562	blood:
10	chr7:112128634..112130975-chr7:112134554..112137012,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000006652	Chromatin interaction
ENSG00000181016	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1006536	0.84[CEU][hapmap];0.93[CHB][hapmap];0.82[ASN][1000 genomes]
rs10953714	0.84[CEU][hapmap]
rs10953715	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11767398	0.84[CEU][hapmap]
rs13232911	0.88[JPT][hapmap]
rs2396550	0.87[CHB][hapmap]
rs2906789	0.88[JPT][hapmap];0.81[ASN][1000 genomes]
rs3095031	0.87[CHB][hapmap]
rs3095034	0.87[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs3128378	0.87[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
2	nsv1030033	chr7:112092709-112140430	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112118800-112141600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr7:112121000-112136200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr7:112125200-112138200	Weak transcription	Pancreas	Pancrea
4	chr7:112125400-112135800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr7:112125400-112142200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr7:112125400-112143200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr7:112125800-112135800	Weak transcription	Colon Smooth Muscle	Colon
8	chr7:112126000-112136200	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr7:112126000-112143600	Weak transcription	Right Ventricle	heart
10	chr7:112127600-112135800	Weak transcription	Brain Hippocampus Middle	brain
11	chr7:112128400-112145600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr7:112130200-112142200	Weak transcription	Adipose Nuclei	Adipose
13	chr7:112130400-112135600	Weak transcription	Liver	Liver
14	chr7:112130400-112135800	Weak transcription	Aorta	Aorta
15	chr7:112132800-112136000	Weak transcription	HepG2	liver
16	chr7:112132800-112141800	Weak transcription	Duodenum Mucosa	Duodenum
17	chr7:112133800-112137400	Weak transcription	Fetal Heart	heart
18	chr7:112134400-112136400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr7:112134800-112135800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr7:112134800-112136400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr7:112135000-112135600	Enhancers	Brain Substantia Nigra	brain
22	chr7:112135000-112135800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr7:112135000-112135800	Enhancers	Brain Angular Gyrus	brain
24	chr7:112135000-112135800	Enhancers	NHEK	skin
25	chr7:112135000-112136000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr7:112135000-112136200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr7:112135000-112136200	Enhancers	HMEC	breast
28	chr7:112135000-112136400	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr7:112135000-112136400	Enhancers	Stomach Smooth Muscle	stomach
30	chr7:112135000-112136400	Enhancers	NHDF-Ad	bronchial
31	chr7:112135200-112135800	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr7:112135200-112136000	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr7:112135200-112137200	Weak transcription	GM12878-XiMat	blood
34	chr7:112135400-112136000	Enhancers	Fetal Lung	lung
35	chr7:112135400-112136400	Enhancers	Cortex derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links