Variant report

Variant	rs73401708
Chromosome Location	chr12:105712432-105712433
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:105711659..105713820-chr12:105714084..105716843,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs17036919	0.83[ASN][1000 genomes]
rs17036923	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2116676	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2116677	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4372554	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4544094	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57393988	1.00[AMR][1000 genomes]
rs57456392	1.00[AMR][1000 genomes]
rs57877894	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58301361	1.00[AMR][1000 genomes]
rs59811168	1.00[AMR][1000 genomes]
rs60725801	1.00[AMR][1000 genomes]
rs72487518	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7296708	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7307834	1.00[AMR][1000 genomes]
rs73395770	1.00[AMR][1000 genomes]
rs73395771	1.00[AMR][1000 genomes]
rs73395772	1.00[AMR][1000 genomes]
rs73395783	1.00[AMR][1000 genomes]
rs73395785	1.00[AMR][1000 genomes]
rs73399763	1.00[EUR][1000 genomes]
rs73399769	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73399775	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73399778	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73399779	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73399781	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73399782	1.00[EUR][1000 genomes]
rs73399787	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73399794	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73401704	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73401705	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv899499	chr12:105616297-105722529	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv510589	chr12:105670071-105743755	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105706400-105715000	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr12:105709200-105712600	Enhancers	Muscle Satellite Cultured Cells	--
3	chr12:105709400-105712600	Enhancers	Osteobl	bone
4	chr12:105709400-105717200	Enhancers	Fetal Intestine Small	intestine
5	chr12:105709600-105712600	Enhancers	NHLF	lung
6	chr12:105709600-105713400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr12:105709800-105713800	Weak transcription	Primary T cells from cord blood	blood
8	chr12:105709800-105714600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr12:105710000-105713200	Weak transcription	Gastric	stomach
10	chr12:105710000-105713600	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr12:105710000-105715000	Weak transcription	Lung	lung
12	chr12:105710600-105712800	Enhancers	NH-A	brain
13	chr12:105710600-105716200	Enhancers	Stomach Mucosa	stomach
14	chr12:105711000-105712600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr12:105711000-105712600	Enhancers	Duodenum Mucosa	Duodenum
16	chr12:105711000-105712600	Flanking Active TSS	A549	lung
17	chr12:105711000-105716800	Enhancers	Liver	Liver
18	chr12:105711200-105713400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr12:105711400-105712600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr12:105711600-105712600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr12:105711600-105713200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr12:105711600-105713200	Weak transcription	Pancreas	Pancrea
23	chr12:105711600-105713600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr12:105711600-105716600	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr12:105711800-105712600	Flanking Active TSS	HepG2	liver
26	chr12:105711800-105715400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr12:105712000-105712600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
28	chr12:105712000-105716600	Enhancers	NHDF-Ad	bronchial
29	chr12:105712200-105713000	Enhancers	Colonic Mucosa	Colon
30	chr12:105712200-105715400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr12:105712200-105715800	Weak transcription	HSMMtube	muscle
32	chr12:105712200-105716800	Enhancers	Fetal Intestine Large	intestine
33	chr12:105712400-105712600	Enhancers	Fetal Kidney	kidney
34	chr12:105712400-105712600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
35	chr12:105712400-105713000	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr12:105712400-105714000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr12:105712400-105715800	Weak transcription	HSMM	muscle
38	chr12:105712400-105720000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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