Variant report

Variant	rs2700515
Chromosome Location	chr12:104401727-104401728
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12369883	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2254063	0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2254064	0.94[AMR][1000 genomes]
rs2583271	1.00[ASN][1000 genomes]
rs2583277	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2629779	1.00[ASN][1000 genomes]
rs2629793	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2629804	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2700510	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2722169	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2722171	1.00[ASN][1000 genomes]
rs2723845	1.00[ASN][1000 genomes]
rs2723846	1.00[ASN][1000 genomes]
rs2723847	1.00[ASN][1000 genomes]
rs2723868	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	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	chr12:104385600-104404000	Weak transcription	Stomach Smooth Muscle	stomach
2	chr12:104387200-104404600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr12:104391200-104406200	Weak transcription	Colon Smooth Muscle	Colon
4	chr12:104391600-104406400	Weak transcription	Ovary	ovary
5	chr12:104393000-104407400	Weak transcription	Fetal Muscle Trunk	muscle
6	chr12:104397200-104406200	Weak transcription	Aorta	Aorta
7	chr12:104400400-104406200	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr12:104400800-104404000	Weak transcription	HSMMtube	muscle
9	chr12:104401000-104404200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr12:104401200-104402200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr12:104401200-104403800	Weak transcription	Fetal Muscle Leg	muscle
12	chr12:104401200-104404000	Weak transcription	NHLF	lung
13	chr12:104401200-104404400	Weak transcription	HUVEC	blood vessel
14	chr12:104401200-104404600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr12:104401200-104404600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr12:104401200-104404800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr12:104401200-104404800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr12:104401400-104404000	Weak transcription	Fetal Stomach	stomach
19	chr12:104401400-104404000	Weak transcription	Hela-S3	cervix
20	chr12:104401400-104404400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr12:104401400-104404400	Weak transcription	NH-A	brain
22	chr12:104401400-104404400	Weak transcription	Osteobl	bone
23	chr12:104401400-104404600	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr12:104401400-104404600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr12:104401400-104404600	Weak transcription	HMEC	breast
26	chr12:104401400-104404600	Weak transcription	HSMM	muscle
27	chr12:104401400-104404800	Weak transcription	NHEK	skin
28	chr12:104401400-104405000	Weak transcription	A549	lung
29	chr12:104401600-104402000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr12:104401600-104403800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr12:104401600-104404200	Weak transcription	NHDF-Ad	bronchial
32	chr12:104401600-104404400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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