Variant report

Variant	rs12495351
Chromosome Location	chr3:113401515-113401516
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12629807	1.00[AFR][1000 genomes]
rs16861260	0.94[EUR][1000 genomes]
rs2290477	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4682140	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4682141	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60892802	1.00[AFR][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	nsv1013506	chr3:112890608-113680951	Weak transcription Bivalent/Poised TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv1004000	chr3:113116778-113513899	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:113376600-113404800	Weak transcription	Hela-S3	cervix
2	chr3:113379000-113403400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr3:113379600-113404800	Weak transcription	Right Ventricle	heart
4	chr3:113380000-113413800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr3:113380000-113414000	Weak transcription	NH-A	brain
6	chr3:113380200-113404600	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr3:113380800-113413400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr3:113381000-113404000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr3:113381400-113404000	Weak transcription	Spleen	Spleen
10	chr3:113384200-113404000	Weak transcription	Aorta	Aorta
11	chr3:113384200-113404600	Weak transcription	Gastric	stomach
12	chr3:113384200-113404600	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr3:113384200-113413600	Weak transcription	Colonic Mucosa	Colon
14	chr3:113387200-113404000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr3:113387200-113412000	Weak transcription	Fetal Kidney	kidney
16	chr3:113387400-113401600	Weak transcription	Small Intestine	intestine
17	chr3:113387400-113404800	Weak transcription	NHDF-Ad	bronchial
18	chr3:113387800-113404800	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr3:113392800-113404200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr3:113392800-113404600	Weak transcription	Pancreas	Pancrea
21	chr3:113393000-113405200	Weak transcription	HSMM	muscle
22	chr3:113394000-113402800	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr3:113394200-113404400	Weak transcription	Placenta	Placenta
24	chr3:113395400-113403600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr3:113395600-113403000	Weak transcription	HSMMtube	muscle
26	chr3:113395600-113414400	Weak transcription	Esophagus	oesophagus
27	chr3:113396000-113403200	Weak transcription	Fetal Lung	lung
28	chr3:113396000-113404000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr3:113396000-113404000	Weak transcription	HepG2	liver
30	chr3:113396000-113404400	Weak transcription	Osteobl	bone
31	chr3:113396000-113410200	Weak transcription	Colon Smooth Muscle	Colon
32	chr3:113396200-113403000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr3:113396200-113403200	Weak transcription	Fetal Muscle Trunk	muscle
34	chr3:113396200-113403600	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr3:113396200-113403800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr3:113396200-113403800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr3:113396200-113404000	Weak transcription	Fetal Thymus	thymus
38	chr3:113396200-113404600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr3:113396200-113404600	Weak transcription	Stomach Smooth Muscle	stomach
40	chr3:113396200-113413800	Weak transcription	Fetal Heart	heart
41	chr3:113396200-113414000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr3:113396400-113402800	Weak transcription	Primary B cells from cord blood	blood
43	chr3:113396400-113403000	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr3:113396400-113403000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr3:113396400-113403000	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr3:113396400-113403800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr3:113396400-113403800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr3:113396400-113403800	Weak transcription	Duodenum Mucosa	Duodenum
49	chr3:113396400-113403800	Weak transcription	Left Ventricle	heart
50	chr3:113396400-113404200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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