Variant report

Variant	rs744477
Chromosome Location	chr12:63277692-63277693
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	chr12:63255844..63260433-chr12:63273659..63277990,4	MCF-7	breast:
2	chr12:63276390..63278023-chr12:63282262..63284033,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs13377720	1.00[EUR][1000 genomes]
rs13377752	1.00[EUR][1000 genomes]
rs1666904	1.00[GIH][hapmap];1.00[LWK][hapmap];0.85[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1666905	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1681997	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1681998	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1695006	1.00[EUR][1000 genomes]
rs1695010	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2084450	0.85[YRI][hapmap]
rs28556303	1.00[EUR][1000 genomes]
rs744475	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	nsv899161	chr12:63275017-63311148	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63261200-63277800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr12:63268000-63285000	Weak transcription	Fetal Intestine Large	intestine
3	chr12:63268600-63280600	Weak transcription	Brain Anterior Caudate	brain
4	chr12:63271200-63280600	Weak transcription	Left Ventricle	heart
5	chr12:63271400-63287200	Weak transcription	Aorta	Aorta
6	chr12:63271600-63294400	Weak transcription	Ovary	ovary
7	chr12:63271800-63280600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr12:63273200-63277800	Weak transcription	HepG2	liver
9	chr12:63274600-63281600	Weak transcription	Brain Angular Gyrus	brain
10	chr12:63274800-63280600	Weak transcription	Brain Substantia Nigra	brain
11	chr12:63274800-63284000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr12:63275400-63287000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr12:63275600-63278400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr12:63275600-63280400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr12:63275800-63278600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr12:63275800-63279200	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr12:63276400-63278600	Weak transcription	Fetal Intestine Small	intestine
18	chr12:63276400-63286600	Weak transcription	Pancreas	Pancrea
19	chr12:63276800-63277800	Enhancers	Brain Hippocampus Middle	brain
20	chr12:63277000-63277800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr12:63277000-63285600	Weak transcription	Primary hematopoietic stem cells	blood
22	chr12:63277200-63277800	Enhancers	H9 Cell Line	embryonic stem cell
23	chr12:63277200-63278000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:63277200-63278000	Enhancers	Brain Cingulate Gyrus	brain
25	chr12:63277200-63284000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr12:63277400-63277800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr12:63277400-63285800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr12:63277600-63277800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr12:63277600-63278000	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr12:63277600-63278000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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