Variant report

Variant	rs10012369
Chromosome Location	chr4:147256867-147256868
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:147246661..147249612-chr4:147255793..147257750,2	MCF-7	breast:
2	chr4:147250783..147254830-chr4:147255041..147259510,7	MCF-7	breast:
3	chr4:147254547..147257377-chr4:147259136..147260909,2	K562	blood:
4	chr4:146856345..146860229-chr4:147256179..147259928,4	MCF-7	breast:
5	chr4:147162002..147168172-chr4:147253902..147262824,27	MCF-7	breast:
6	chr4:147190917..147192966-chr4:147255920..147257671,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251010	Chromatin interaction
ENSG00000151612	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10011474	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10212750	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10213552	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13107111	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13121171	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs13147611	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2101345	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4240332	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4240333	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4467590	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4835293	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4835295	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6537416	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6823006	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6840788	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7689088	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461675	chr4:147116864-147768206	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv595651	chr4:147116864-147768206	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	esv3451660	chr4:147225135-147271246	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv3443192	chr4:147225234-147271217	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	esv3468025	chr4:147225279-147271172	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	esv3468026	chr4:147225279-147271172	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv1033640	chr4:147232217-147531881	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:147212800-147264200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr4:147229600-147257400	Weak transcription	Ovary	ovary
3	chr4:147241800-147284800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr4:147248800-147257200	Weak transcription	Fetal Intestine Large	intestine
5	chr4:147254600-147258000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr4:147254800-147257600	Enhancers	Adipose Nuclei	Adipose
7	chr4:147255400-147257000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr4:147255400-147257000	Weak transcription	NH-A	brain
9	chr4:147255400-147257800	Enhancers	Small Intestine	intestine
10	chr4:147255400-147258000	Enhancers	Muscle Satellite Cultured Cells	--
11	chr4:147255400-147258800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr4:147255400-147264400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr4:147255600-147257200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr4:147255600-147257200	Weak transcription	NHEK	skin
15	chr4:147255600-147257200	Weak transcription	NHLF	lung
16	chr4:147255800-147257200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr4:147256000-147258600	Enhancers	Fetal Lung	lung
18	chr4:147256000-147258600	Enhancers	Hela-S3	cervix
19	chr4:147256000-147261400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr4:147256400-147257200	Enhancers	Brain Hippocampus Middle	brain
21	chr4:147256400-147257600	Enhancers	A549	lung
22	chr4:147256400-147257600	Enhancers	HSMM	muscle
23	chr4:147256400-147257800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr4:147256400-147258000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr4:147256400-147258600	Enhancers	Liver	Liver
26	chr4:147256400-147258600	Enhancers	HUVEC	blood vessel
27	chr4:147256600-147258000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr4:147256600-147258000	Enhancers	Stomach Mucosa	stomach
29	chr4:147256600-147258200	Weak transcription	Lung	lung
30	chr4:147256800-147257200	Weak transcription	Fetal Intestine Small	intestine
31	chr4:147256800-147257800	Enhancers	Duodenum Mucosa	Duodenum
32	chr4:147256800-147257800	Enhancers	HMEC	breast
33	chr4:147256800-147257800	Enhancers	Osteobl	bone
34	chr4:147256800-147258000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr4:147256800-147258000	Enhancers	GM12878-XiMat	blood
36	chr4:147256800-147258200	Enhancers	HepG2	liver

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