Variant report

Variant	rs4604983
Chromosome Location	chr12:64356171-64356172
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:64353947..64356633-chr12:64510902..64512788,2	MCF-7	breast:
2	chr12:64350699..64353399-chr12:64355633..64359154,3	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11175217	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs11175227	0.95[JPT][hapmap]
rs1350138	0.87[CHB][hapmap];0.95[JPT][hapmap]
rs1350140	0.82[CHB][hapmap];0.95[JPT][hapmap]
rs1947504	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs1962538	0.99[ASN][1000 genomes]
rs2054150	0.97[ASN][1000 genomes]
rs3741607	0.85[JPT][hapmap]
rs4516056	0.94[JPT][hapmap]
rs6581515	0.82[CHB][hapmap];0.95[JPT][hapmap];0.85[YRI][hapmap]
rs7300256	0.91[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs7300468	0.82[CHB][hapmap];0.95[JPT][hapmap]
rs7313754	0.82[CHB][hapmap];0.95[JPT][hapmap]
rs7957913	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs9668855	0.82[CHB][hapmap];0.91[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046836	chr12:63392391-64377169	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv832442	chr12:64228071-64442771	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv559201	chr12:64333212-64366408	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64312400-64385000	Weak transcription	Aorta	Aorta
2	chr12:64328800-64360800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr12:64340000-64360200	Weak transcription	NHEK	skin
4	chr12:64344200-64361000	Weak transcription	HMEC	breast
5	chr12:64344600-64359800	Weak transcription	Small Intestine	intestine
6	chr12:64344600-64363800	Weak transcription	Fetal Intestine Small	intestine
7	chr12:64345400-64363800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr12:64346000-64365400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr12:64347000-64361400	Weak transcription	Brain Anterior Caudate	brain
10	chr12:64350200-64356800	Weak transcription	A549	lung
11	chr12:64350400-64361000	Weak transcription	HSMM	muscle
12	chr12:64350600-64357200	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr12:64351200-64357000	Weak transcription	Brain Substantia Nigra	brain
14	chr12:64352600-64361400	Weak transcription	Brain Hippocampus Middle	brain
15	chr12:64354600-64361000	Weak transcription	Fetal Brain Female	brain
16	chr12:64355000-64356200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr12:64355000-64356400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr12:64355000-64356400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:64355200-64361000	Weak transcription	Right Atrium	heart
20	chr12:64355200-64361600	Weak transcription	Fetal Brain Male	brain
21	chr12:64355400-64357200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr12:64355400-64359800	Weak transcription	NHLF	lung
23	chr12:64355400-64360200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr12:64355400-64361000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr12:64355400-64361200	Weak transcription	Fetal Muscle Leg	muscle
26	chr12:64355400-64362200	Weak transcription	Pancreas	Pancrea
27	chr12:64355600-64360400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr12:64355600-64363800	Weak transcription	Adipose Nuclei	Adipose
29	chr12:64355800-64357000	Weak transcription	Osteobl	bone
30	chr12:64355800-64357600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr12:64355800-64361000	Weak transcription	Ovary	ovary
32	chr12:64356000-64357600	Weak transcription	NHDF-Ad	bronchial

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