Variant report

Variant	rs17035120
Chromosome Location	chr12:104408794-104408795
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	chr12:104408094..104409775-chr12:104414892..104417585,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12228873	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2249210	0.89[CHB][hapmap]
rs2293621	0.84[CHB][hapmap]
rs2722195	0.89[CHB][hapmap];0.83[CHD][hapmap]
rs35437351	0.84[ASN][1000 genomes]
rs3763995	0.84[CHB][hapmap];0.85[CHD][hapmap]
rs4135042	0.89[CHB][hapmap];0.83[CHD][hapmap];0.84[MEX][hapmap]
rs4135067	0.89[CHB][hapmap];0.80[CHD][hapmap];0.92[MEX][hapmap]
rs4135077	0.89[CHB][hapmap];0.81[CHD][hapmap];0.92[MEX][hapmap]
rs812498	0.89[CHB][hapmap];0.83[CHD][hapmap]

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	nsv560039	chr12:104177668-104455340	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv427922	chr12:104325583-104523096	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104402200-104409600	Weak transcription	Fetal Intestine Large	intestine
2	chr12:104402600-104410200	Weak transcription	Lung	lung
3	chr12:104403000-104409000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr12:104404000-104410000	Strong transcription	Stomach Smooth Muscle	stomach
5	chr12:104405200-104409000	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr12:104405200-104409800	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr12:104405200-104410200	Weak transcription	NHLF	lung
8	chr12:104405600-104409000	Weak transcription	Osteobl	bone
9	chr12:104405600-104414000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr12:104405600-104414400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr12:104405600-104415800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr12:104405800-104409200	Weak transcription	Hela-S3	cervix
13	chr12:104405800-104409400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr12:104405800-104409800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr12:104406000-104409000	Strong transcription	Fetal Muscle Leg	muscle
16	chr12:104406200-104409200	Strong transcription	Aorta	Aorta
17	chr12:104406400-104409200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr12:104406400-104409400	Strong transcription	Fetal Stomach	stomach
19	chr12:104406400-104409400	Strong transcription	Ovary	ovary
20	chr12:104406400-104410400	Weak transcription	NHDF-Ad	bronchial
21	chr12:104406600-104409400	Weak transcription	HSMMtube	muscle
22	chr12:104406800-104417200	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr12:104407000-104412600	Weak transcription	Colon Smooth Muscle	Colon
24	chr12:104407200-104408800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr12:104407200-104410400	Weak transcription	HSMM	muscle
26	chr12:104407400-104408800	Strong transcription	Fetal Lung	lung
27	chr12:104407400-104408800	Strong transcription	HMEC	breast
28	chr12:104407400-104410000	Strong transcription	Fetal Muscle Trunk	muscle
29	chr12:104407600-104408800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr12:104407600-104408800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr12:104407800-104410000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr12:104408200-104408800	Strong transcription	Colonic Mucosa	Colon

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