Variant report

Variant	rs59663650
Chromosome Location	chr12:62682711-62682712
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:62669432..62672054-chr12:62682011..62684477,2	MCF-7	breast:
2	chr12:62670815..62672693-chr12:62681392..62683721,2	K562	blood:
3	chr12:62653168..62655922-chr12:62682408..62685146,3	K562	blood:

Variant related genes	Relation type
ENSG00000135655	Chromatin interaction
ENSG00000198673	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs7134026	1.00[EUR][1000 genomes]
rs73315670	1.00[EUR][1000 genomes]
rs73315682	1.00[EUR][1000 genomes]
rs73315685	1.00[EUR][1000 genomes]
rs73315696	1.00[EUR][1000 genomes]
rs73317650	1.00[EUR][1000 genomes]
rs73319549	1.00[EUR][1000 genomes]
rs73319579	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73319581	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73321560	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73321575	1.00[EUR][1000 genomes]
rs73321578	1.00[EUR][1000 genomes]
rs73321591	1.00[EUR][1000 genomes]
rs73321596	1.00[EUR][1000 genomes]
rs73323250	1.00[EUR][1000 genomes]
rs73323292	1.00[EUR][1000 genomes]
rs9739442	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035150	chr12:62615347-62785005	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1049465	chr12:62657011-62785005	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv1053403	chr12:62657011-62809413	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv530690	chr12:62678463-62999462	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:62655400-62685600	Weak transcription	HSMM	muscle
2	chr12:62656600-62685600	Weak transcription	Aorta	Aorta
3	chr12:62656600-62685600	Weak transcription	Pancreas	Pancrea
4	chr12:62661600-62682800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:62663000-62685600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr12:62663200-62684800	Weak transcription	NHEK	skin
7	chr12:62663400-62685600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr12:62664400-62685400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr12:62665000-62688000	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr12:62667800-62689000	Weak transcription	HSMMtube	muscle
11	chr12:62669800-62688400	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr12:62670000-62688600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr12:62674200-62685400	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr12:62674400-62685600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr12:62674600-62684800	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr12:62674600-62685400	Weak transcription	Small Intestine	intestine
17	chr12:62674800-62688600	Weak transcription	Brain Angular Gyrus	brain
18	chr12:62676000-62685600	Weak transcription	Left Ventricle	heart
19	chr12:62676200-62684000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr12:62676400-62685600	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr12:62676600-62683000	Weak transcription	Primary hematopoietic stem cells	blood
22	chr12:62676600-62688600	Weak transcription	Ovary	ovary
23	chr12:62677000-62688600	Weak transcription	Fetal Kidney	kidney
24	chr12:62677200-62685400	Weak transcription	Osteobl	bone
25	chr12:62677400-62682800	Weak transcription	Liver	Liver
26	chr12:62678400-62683200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr12:62678600-62682800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr12:62679400-62683400	Weak transcription	Primary B cells from peripheral blood	blood
29	chr12:62679400-62685800	Weak transcription	Psoas Muscle	Psoas
30	chr12:62679400-62696800	Weak transcription	Fetal Brain Male	brain
31	chr12:62679600-62683000	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr12:62680400-62684800	Weak transcription	Fetal Heart	heart
33	chr12:62680400-62686000	Weak transcription	Colon Smooth Muscle	Colon
34	chr12:62680600-62682800	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr12:62680600-62685600	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr12:62680800-62682800	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr12:62681400-62683000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
38	chr12:62681400-62683200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr12:62681400-62683200	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr12:62681400-62685400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr12:62681600-62685600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr12:62681800-62685200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr12:62682000-62683000	Flanking Active TSS	K562	blood
44	chr12:62682200-62683000	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr12:62682200-62683200	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr12:62682400-62683000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
47	chr12:62682400-62683200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
48	chr12:62682400-62684400	Enhancers	Dnd41	blood
49	chr12:62682400-62685000	ZNF genes & repeats	Primary B cells from cord blood	blood
50	chr12:62682400-62686000	ZNF genes & repeats	GM12878-XiMat	blood

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