Variant report

Variant	rs10784318
Chromosome Location	chr12:63281446-63281447
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:63280356..63282421-chr12:63284387..63287315,2	K562	blood:
2	chr12:63262389..63265887-chr12:63279810..63282418,3	MCF-7	breast:
3	chr12:63262984..63265194-chr12:63280872..63282464,2	MCF-7	breast:
4	chr12:63280556..63282421-chr12:63326654..63329622,2	MCF-7	breast:
5	chr12:63279630..63281538-chr12:63328095..63330873,2	K562	blood:
6	chr12:63277854..63280085-chr12:63280794..63282974,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000252660	Chromatin interaction
ENSG00000111110	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1081782	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10877923	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10877924	0.84[EUR][1000 genomes]
rs10877925	0.87[CHB][hapmap];0.84[GIH][hapmap];0.86[JPT][hapmap];0.81[LWK][hapmap];0.96[MEX][hapmap];0.80[TSI][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11174712	0.81[ASW][hapmap];0.87[CHB][hapmap];0.93[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.96[MEX][hapmap];0.86[MKK][hapmap];0.90[TSI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12313697	0.82[ASN][1000 genomes]
rs1545897	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3847908	0.81[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs486118	0.87[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.85[TSI][hapmap];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs489033	0.87[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs524688	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs699570	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs699572	0.83[ASN][1000 genomes]
rs699573	0.87[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.86[TSI][hapmap];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs808868	0.91[CHB][hapmap];0.85[CHD][hapmap];0.95[JPT][hapmap];0.86[TSI][hapmap];0.90[ASN][1000 genomes]
rs867393	0.80[CHD][hapmap];0.82[JPT][hapmap]

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	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
3	nsv899162	chr12:63279750-63334242	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63268000-63285000	Weak transcription	Fetal Intestine Large	intestine
2	chr12:63271400-63287200	Weak transcription	Aorta	Aorta
3	chr12:63271600-63294400	Weak transcription	Ovary	ovary
4	chr12:63274600-63281600	Weak transcription	Brain Angular Gyrus	brain
5	chr12:63274800-63284000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr12:63275400-63287000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr12:63276400-63286600	Weak transcription	Pancreas	Pancrea
8	chr12:63277000-63285600	Weak transcription	Primary hematopoietic stem cells	blood
9	chr12:63277200-63284000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr12:63277400-63285800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr12:63279400-63286600	Weak transcription	Fetal Intestine Small	intestine
12	chr12:63279400-63289200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr12:63280000-63282000	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr12:63280400-63282400	Enhancers	Brain Hippocampus Middle	brain
15	chr12:63280600-63281800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr12:63280600-63283400	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr12:63280600-63284200	Enhancers	Brain Substantia Nigra	brain
18	chr12:63280800-63281600	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr12:63280800-63282200	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr12:63281000-63282400	Weak transcription	Brain Cingulate Gyrus	brain
21	chr12:63281000-63282600	Weak transcription	Brain Anterior Caudate	brain
22	chr12:63281000-63293000	Weak transcription	Left Ventricle	heart
23	chr12:63281200-63285400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr12:63281200-63293600	Weak transcription	Gastric	stomach
25	chr12:63281400-63282000	Weak transcription	HepG2	liver
26	chr12:63281400-63286000	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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