Variant report

Variant	rs593350
Chromosome Location	chr12:63180278-63180279
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:62995348..62998836-chr12:63178940..63181391,3	K562	blood:
2	chr12:62995008..63000778-chr12:63178750..63184772,7	MCF-7	breast:
3	chr12:62995127..63000683-chr12:63174450..63183073,15	MCF-7	breast:

Variant related genes	Relation type
ENSG00000199179	Chromatin interaction
ENSG00000257354	Chromatin interaction
ENSG00000221949	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11174642	0.85[EUR][1000 genomes]
rs11174645	0.83[EUR][1000 genomes]
rs11174646	0.85[EUR][1000 genomes]
rs11174647	0.85[EUR][1000 genomes]
rs11838276	0.83[EUR][1000 genomes]
rs17098298	0.82[EUR][1000 genomes]
rs17098311	0.85[EUR][1000 genomes]
rs17098313	0.85[EUR][1000 genomes]
rs17098314	0.85[EUR][1000 genomes]
rs17120354	0.85[EUR][1000 genomes]
rs2652028	0.93[ASN][1000 genomes]
rs2652031	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2663955	0.93[ASN][1000 genomes]
rs2663959	0.86[ASN][1000 genomes]
rs2663961	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs2704758	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2704759	0.93[ASN][1000 genomes]
rs2704761	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2704763	0.93[ASN][1000 genomes]
rs478720	0.86[ASN][1000 genomes]
rs479646	0.86[ASN][1000 genomes]
rs500505	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs506821	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs510656	0.93[ASN][1000 genomes]
rs518285	1.00[CEU][hapmap];0.86[ASN][1000 genomes]
rs535206	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs536052	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs60309222	0.85[EUR][1000 genomes]
rs627273	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs642388	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7134005	0.85[EUR][1000 genomes]
rs7303205	0.85[EUR][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	nsv899160	chr12:63149213-63209623	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63165600-63182000	Weak transcription	Brain Cingulate Gyrus	brain
2	chr12:63174800-63182800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr12:63175200-63193600	Weak transcription	Gastric	stomach
4	chr12:63175200-63206800	Weak transcription	Pancreas	Pancrea
5	chr12:63177000-63182600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr12:63177400-63181600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr12:63177800-63180600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:63177800-63181800	Enhancers	NH-A	brain
9	chr12:63178000-63185400	Weak transcription	Fetal Brain Male	brain
10	chr12:63178200-63180400	Weak transcription	Brain Anterior Caudate	brain
11	chr12:63178200-63180800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr12:63178200-63187000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr12:63178400-63182400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr12:63178400-63186200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr12:63178400-63192400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr12:63178600-63186200	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr12:63178800-63182200	Weak transcription	Brain Substantia Nigra	brain
18	chr12:63179000-63181000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr12:63179200-63180400	Flanking Active TSS	A549	lung
20	chr12:63179200-63181600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr12:63179200-63182200	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr12:63179200-63182400	Enhancers	Osteobl	bone
23	chr12:63179200-63182600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr12:63179400-63180400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr12:63179400-63180400	Enhancers	Brain Angular Gyrus	brain
26	chr12:63179400-63180400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr12:63179400-63180400	Enhancers	Fetal Thymus	thymus
28	chr12:63179400-63180400	Flanking Active TSS	Hela-S3	cervix
29	chr12:63179400-63180600	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr12:63179400-63180600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr12:63179400-63180600	Enhancers	Left Ventricle	heart
32	chr12:63179400-63181000	Enhancers	Fetal Muscle Trunk	muscle
33	chr12:63179400-63181200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr12:63179400-63181200	Enhancers	Primary B cells from cord blood	blood
35	chr12:63179400-63181200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr12:63179400-63181600	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr12:63179400-63181800	Enhancers	Fetal Muscle Leg	muscle
38	chr12:63179400-63182200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr12:63179400-63182200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr12:63179400-63182200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr12:63179400-63182400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr12:63179400-63182400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr12:63179400-63182400	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr12:63179400-63182600	Strong transcription	HepG2	liver
45	chr12:63179400-63182800	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr12:63179600-63180400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
47	chr12:63179600-63180400	Enhancers	Placenta Amnion	Placenta Amnion
48	chr12:63179600-63180600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr12:63179600-63180600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr12:63179600-63180600	Enhancers	NHLF	lung

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