Variant report

Variant	rs1962538
Chromosome Location	chr12:64359842-64359843
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:64356528..64360671-chr12:64362501..64365112,4	MCF-7	breast:
2	chr12:64348224..64350192-chr12:64359739..64362105,2	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11175217	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1350138	0.81[AFR][1000 genomes]
rs1947504	0.99[ASN][1000 genomes]
rs2054150	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4604983	0.99[ASN][1000 genomes]
rs7300256	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[ASN][1000 genomes]

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:43 , 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	chr12:64344600-64363800	Weak transcription	Fetal Intestine Small	intestine
6	chr12:64345400-64363800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr12:64346000-64365400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr12:64347000-64361400	Weak transcription	Brain Anterior Caudate	brain
9	chr12:64350400-64361000	Weak transcription	HSMM	muscle
10	chr12:64352600-64361400	Weak transcription	Brain Hippocampus Middle	brain
11	chr12:64354600-64361000	Weak transcription	Fetal Brain Female	brain
12	chr12:64355200-64361000	Weak transcription	Right Atrium	heart
13	chr12:64355200-64361600	Weak transcription	Fetal Brain Male	brain
14	chr12:64355400-64360200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr12:64355400-64361000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr12:64355400-64361200	Weak transcription	Fetal Muscle Leg	muscle
17	chr12:64355400-64362200	Weak transcription	Pancreas	Pancrea
18	chr12:64355600-64360400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr12:64355600-64363800	Weak transcription	Adipose Nuclei	Adipose
20	chr12:64355800-64361000	Weak transcription	Ovary	ovary
21	chr12:64357200-64362400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr12:64358400-64361400	Weak transcription	HSMMtube	muscle
23	chr12:64358400-64362400	Weak transcription	Psoas Muscle	Psoas
24	chr12:64358600-64360200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr12:64358600-64360600	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr12:64358600-64363000	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr12:64358800-64360000	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr12:64358800-64360000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr12:64358800-64360400	Weak transcription	A549	lung
30	chr12:64358800-64361000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr12:64358800-64362200	Weak transcription	Brain Substantia Nigra	brain
32	chr12:64358800-64363200	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr12:64359000-64360000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr12:64359000-64360400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr12:64359000-64361200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr12:64359200-64361400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr12:64359400-64362200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr12:64359400-64362600	Enhancers	Osteobl	bone
39	chr12:64359600-64362800	Enhancers	NHDF-Ad	bronchial
40	chr12:64359800-64360000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr12:64359800-64360600	Enhancers	Small Intestine	intestine
42	chr12:64359800-64362800	Enhancers	Muscle Satellite Cultured Cells	--
43	chr12:64359800-64364000	Enhancers	NHLF	lung

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