Variant report

Variant	rs73316270
Chromosome Location	chr12:63243145-63243146
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:63241342..63243948-chr12:63244946..63247068,2	MCF-7	breast:
2	chr12:63241092..63243351-chr12:63327423..63330263,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000252660	Chromatin interaction
ENSG00000111110	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12301982	1.00[EUR][1000 genomes]
rs4105516	1.00[ASN][1000 genomes]
rs60154663	1.00[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	chr12:63236800-63243800	Weak transcription	Small Intestine	intestine
2	chr12:63237800-63243400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:63239400-63260200	Weak transcription	Fetal Intestine Small	intestine
4	chr12:63239600-63244800	Weak transcription	Fetal Intestine Large	intestine
5	chr12:63240400-63243400	Enhancers	HSMM	muscle
6	chr12:63240400-63243400	Enhancers	Osteobl	bone
7	chr12:63240800-63243600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr12:63241000-63247400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr12:63241000-63247600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:63241000-63252200	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr12:63241000-63252200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr12:63241000-63252800	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr12:63241200-63243200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr12:63241200-63246200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr12:63241200-63250800	Weak transcription	Adipose Nuclei	Adipose
16	chr12:63241200-63254600	Weak transcription	Primary hematopoietic stem cells	blood
17	chr12:63241600-63243600	Enhancers	NH-A	brain
18	chr12:63242000-63252200	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr12:63242400-63243200	Enhancers	Brain Angular Gyrus	brain
20	chr12:63242400-63244000	Enhancers	Left Ventricle	heart
21	chr12:63242400-63260200	Weak transcription	Fetal Heart	heart
22	chr12:63242600-63243600	Enhancers	A549	lung
23	chr12:63242600-63246400	Weak transcription	Brain Cingulate Gyrus	brain
24	chr12:63242600-63247400	Weak transcription	Brain Substantia Nigra	brain
25	chr12:63242600-63247600	Weak transcription	Brain Anterior Caudate	brain
26	chr12:63242600-63247600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr12:63242600-63249000	Weak transcription	HepG2	liver
28	chr12:63242800-63244600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr12:63242800-63245600	Weak transcription	Brain Hippocampus Middle	brain
30	chr12:63242800-63246400	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr12:63242800-63247400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr12:63242800-63247400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr12:63243000-63243400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr12:63243000-63243600	Weak transcription	Lung	lung
35	chr12:63243000-63243800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr12:63243000-63253000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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