Variant report

Variant	rs7585978
Chromosome Location	chr2:113437241-113437242
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:113434895..113436414-chr2:113437181..113439821,2	K562	blood:
2	chr2:113403404..113405135-chr2:113436197..113437858,2	MCF-7	breast:
3	chr2:113435569..113437643-chr2:113447893..113450101,2	MCF-7	breast:
4	chr2:113397350..113406961-chr2:113434420..113455729,52	K562	blood:
5	chr2:113432008..113433873-chr2:113436981..113438508,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000144136	Chromatin interaction
ENSG00000237753	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11888272	1.00[EUR][1000 genomes]
rs11894217	1.00[EUR][1000 genomes]
rs11896777	1.00[EUR][1000 genomes]
rs11897860	1.00[EUR][1000 genomes]
rs17042244	1.00[EUR][1000 genomes]
rs35477917	1.00[EUR][1000 genomes]
rs58234548	1.00[EUR][1000 genomes]
rs58677663	1.00[EUR][1000 genomes]
rs59684113	1.00[EUR][1000 genomes]
rs6713518	1.00[EUR][1000 genomes]
rs6732118	1.00[EUR][1000 genomes]
rs6740389	1.00[EUR][1000 genomes]
rs72948443	1.00[EUR][1000 genomes]
rs72948451	1.00[EUR][1000 genomes]
rs72950328	1.00[EUR][1000 genomes]

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	nsv428724	chr2:113376894-113555421	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1010106	chr2:113394981-113556071	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113421400-113448400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:113421600-113438400	Weak transcription	Psoas Muscle	Psoas
3	chr2:113422800-113438200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr2:113423200-113445000	Weak transcription	Fetal Brain Male	brain
5	chr2:113423400-113448400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr2:113432600-113439400	Weak transcription	Placenta	Placenta
7	chr2:113432600-113440800	Weak transcription	Spleen	Spleen
8	chr2:113433000-113438200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr2:113436000-113438200	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr2:113436200-113438200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr2:113436800-113437400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:113436800-113437400	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr2:113436800-113438200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr2:113436800-113438800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:113437000-113437400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr2:113437000-113437400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr2:113437000-113437400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:113437000-113437400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr2:113437000-113437400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr2:113437000-113437400	Enhancers	Adipose Nuclei	Adipose
21	chr2:113437000-113437400	Enhancers	Lung	lung
22	chr2:113437000-113437400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr2:113437000-113437400	Enhancers	NHDF-Ad	bronchial
24	chr2:113437000-113437400	Enhancers	NHLF	lung
25	chr2:113437000-113437600	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr2:113437000-113437600	Enhancers	HUVEC	blood vessel
27	chr2:113437000-113438200	Enhancers	Muscle Satellite Cultured Cells	--
28	chr2:113437000-113438200	Enhancers	Colon Smooth Muscle	Colon
29	chr2:113437000-113438200	Enhancers	HMEC	breast
30	chr2:113437000-113438200	Enhancers	Osteobl	bone
31	chr2:113437000-113438400	Enhancers	K562	blood
32	chr2:113437000-113445800	Enhancers	Hela-S3	cervix
33	chr2:113437200-113437400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr2:113437200-113437400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr2:113437200-113437400	Enhancers	Esophagus	oesophagus
36	chr2:113437200-113437400	Bivalent Enhancer	HepG2	liver
37	chr2:113437200-113437600	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr2:113437200-113437600	Enhancers	Fetal Brain Female	brain
39	chr2:113437200-113437600	Flanking Active TSS	NHEK	skin
40	chr2:113437200-113438200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr2:113437200-113438200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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