Variant report

Variant	rs680831
Chromosome Location	chr12:63274095-63274096
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:63273431..63275241-chr12:63290276..63292669,2	MCF-7	breast:
2	chr12:63273482..63276105-chr12:63324885..63326810,2	MCF-7	breast:
3	chr12:63255844..63260433-chr12:63273659..63277990,4	MCF-7	breast:
4	chr12:63270778..63274570-chr12:63326968..63330473,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000252660	Chromatin interaction
ENSG00000111110	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1077402	0.91[JPT][hapmap];0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1081649	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11174701	0.84[ASN][1000 genomes]
rs11174704	0.85[JPT][hapmap];0.80[ASN][1000 genomes]
rs2839798	0.85[JPT][hapmap];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4316552	0.88[EUR][1000 genomes]
rs479356	0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs481867	0.86[ASN][1000 genomes]
rs482794	0.86[ASN][1000 genomes]
rs572873	0.89[JPT][hapmap];0.89[ASN][1000 genomes]
rs669622	1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs688624	0.88[ASN][1000 genomes]
rs7312496	0.83[EUR][1000 genomes];0.84[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:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63258200-63277200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:63260200-63275400	Weak transcription	Pancreas	Pancrea
3	chr12:63260800-63275200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr12:63261200-63275000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr12:63261200-63277800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr12:63262400-63275200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr12:63262400-63277000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr12:63262800-63276000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr12:63263400-63277200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr12:63267400-63277600	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr12:63267800-63274200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr12:63268000-63285000	Weak transcription	Fetal Intestine Large	intestine
13	chr12:63268200-63274400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr12:63268600-63280600	Weak transcription	Brain Anterior Caudate	brain
15	chr12:63270600-63275200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr12:63271200-63274200	Weak transcription	Brain Angular Gyrus	brain
17	chr12:63271200-63280600	Weak transcription	Left Ventricle	heart
18	chr12:63271400-63274200	Weak transcription	Brain Hippocampus Middle	brain
19	chr12:63271400-63274200	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr12:63271400-63274200	Weak transcription	Brain Substantia Nigra	brain
21	chr12:63271400-63287200	Weak transcription	Aorta	Aorta
22	chr12:63271600-63294400	Weak transcription	Ovary	ovary
23	chr12:63271800-63280600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr12:63272400-63274800	Enhancers	Placenta	Placenta
25	chr12:63273000-63275000	Weak transcription	Fetal Intestine Small	intestine
26	chr12:63273200-63277800	Weak transcription	HepG2	liver
27	chr12:63274000-63274400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
28	chr12:63274000-63274600	Enhancers	Brain Cingulate Gyrus	brain

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