Variant report

Variant	rs337513
Chromosome Location	chr12:63252442-63252443
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:63251270..63253184-chr12:63258915..63261643,2	MCF-7	breast:

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs17098414	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs337514	1.00[CEU][hapmap];0.89[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3415227	chr12:63228121-63591615	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 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	chr12:63239400-63260200	Weak transcription	Fetal Intestine Small	intestine
2	chr12:63241000-63252800	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr12:63241200-63254600	Weak transcription	Primary hematopoietic stem cells	blood
4	chr12:63242400-63260200	Weak transcription	Fetal Heart	heart
5	chr12:63243000-63253000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr12:63246600-63252800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr12:63247800-63252800	Weak transcription	K562	blood
8	chr12:63248000-63252800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr12:63248000-63253000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr12:63248200-63252600	Weak transcription	Brain Germinal Matrix	brain
11	chr12:63248200-63253000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr12:63248200-63253400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr12:63248400-63252800	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr12:63248400-63252800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr12:63248400-63253400	Weak transcription	Ovary	ovary
16	chr12:63249800-63255800	Weak transcription	HepG2	liver
17	chr12:63250800-63253600	Enhancers	Adipose Nuclei	Adipose
18	chr12:63251400-63255400	Weak transcription	HUVEC	blood vessel
19	chr12:63252000-63252800	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr12:63252000-63253400	Enhancers	Brain Substantia Nigra	brain
21	chr12:63252000-63254400	Enhancers	Brain Hippocampus Middle	brain
22	chr12:63252000-63259000	Weak transcription	Left Ventricle	heart
23	chr12:63252200-63253000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr12:63252200-63253000	Enhancers	Brain Anterior Caudate	brain
25	chr12:63252200-63253200	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr12:63252200-63253200	Enhancers	A549	lung
27	chr12:63252200-63254000	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr12:63252200-63254200	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr12:63252200-63254400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr12:63252200-63254600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr12:63252200-63256600	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr12:63252200-63256800	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr12:63252400-63253600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr12:63252400-63253800	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr12:63252400-63254400	Enhancers	Brain Angular Gyrus	brain
36	chr12:63252400-63254400	Enhancers	Brain Cingulate Gyrus	brain

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