Variant report

Variant	rs4953476
Chromosome Location	chr2:47433465-47433466
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:47433190..47433692-chr2:208994565..208995065,2	MCF-7	breast:
2	chr2:47431418..47435182-chr2:47440517..47443533,3	MCF-7	breast:
3	chr2:47423169..47425083-chr2:47433358..47436246,2	K562	blood:
4	chr2:47432369..47434937-chr2:47435735..47438988,3	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11842	1.00[ASN][1000 genomes]
rs13388457	1.00[JPT][hapmap]
rs13397696	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs13413278	1.00[CHB][hapmap]
rs17036300	1.00[CHB][hapmap]
rs2016682	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs28615318	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4953469	1.00[CHB][hapmap]
rs4953470	1.00[CHB][hapmap]
rs4953471	1.00[CHB][hapmap]
rs59527781	1.00[ASN][1000 genomes]
rs6544960	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6749284	1.00[CHB][hapmap]
rs904167	0.82[YRI][hapmap]
rs9808216	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv457374	chr2:47313624-47448865	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Bivalent Enhancer 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	87 gene(s)	inside rSNPs	diseases
4	nsv581754	chr2:47313624-47448865	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	87 gene(s)	inside rSNPs	diseases
5	esv10649	chr2:47429316-47472670	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv531348	chr2:47433147-47827310	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47427000-47435200	Weak transcription	Hela-S3	cervix
2	chr2:47427000-47435800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr2:47428400-47437800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:47428800-47441000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:47428800-47442000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:47429000-47438400	Weak transcription	Brain Anterior Caudate	brain
7	chr2:47429200-47435800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:47430800-47435800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:47431400-47447200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr2:47431800-47434200	Enhancers	K562	blood
11	chr2:47432200-47433800	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr2:47432200-47435200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr2:47432400-47433600	Enhancers	Fetal Heart	heart
14	chr2:47432400-47433800	Enhancers	Fetal Intestine Large	intestine
15	chr2:47432400-47434400	Enhancers	Placenta	Placenta
16	chr2:47432600-47433600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr2:47432600-47433600	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr2:47432600-47433600	Enhancers	Stomach Mucosa	stomach
19	chr2:47432600-47433600	Enhancers	HUVEC	blood vessel
20	chr2:47432600-47433800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:47432800-47433800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr2:47433000-47434000	Enhancers	A549	lung
23	chr2:47433000-47434400	Weak transcription	Lung	lung
24	chr2:47433000-47434800	Weak transcription	Gastric	stomach
25	chr2:47433000-47438400	Weak transcription	Liver	Liver
26	chr2:47433200-47433800	Weak transcription	Right Atrium	heart
27	chr2:47433200-47434600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr2:47433200-47435600	Weak transcription	NH-A	brain
29	chr2:47433200-47435800	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr2:47433200-47435800	Weak transcription	Fetal Lung	lung
31	chr2:47433200-47435800	Weak transcription	NHLF	lung
32	chr2:47433200-47436000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr2:47433200-47442200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr2:47433400-47433600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr2:47433400-47433800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr2:47433400-47433800	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr2:47433400-47434600	Weak transcription	Spleen	Spleen
38	chr2:47433400-47435800	Weak transcription	Fetal Intestine Small	intestine
39	chr2:47433400-47435800	Weak transcription	Osteobl	bone
40	chr2:47433400-47436000	Weak transcription	HSMM	muscle
41	chr2:47433400-47442200	Weak transcription	Duodenum Mucosa	Duodenum
42	chr2:47433400-47445200	Weak transcription	Fetal Kidney	kidney

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