Variant report

Variant	rs193248590
Chromosome Location	chr12:50720438-50720439
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899075	chr12:50594947-50835060	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
2	esv2761738	chr12:50627292-50836427	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
3	nsv1035796	chr12:50634342-50784312	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	nsv1053667	chr12:50679039-50801752	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
5	nsv1054480	chr12:50691039-50859665	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
6	nsv1041563	chr12:50705715-50861699	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	nsv1049665	chr12:50705715-50871542	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
8	esv2762979	chr12:50719438-50736171	Enhancers Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50693600-50722800	Weak transcription	Fetal Intestine Small	intestine
2	chr12:50719600-50721600	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr12:50719800-50720600	Flanking Active TSS	Liver	Liver
4	chr12:50719800-50720600	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr12:50719800-50721000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr12:50719800-50721000	Enhancers	Adipose Nuclei	Adipose
7	chr12:50719800-50721000	Enhancers	Colonic Mucosa	Colon
8	chr12:50719800-50721000	Enhancers	Fetal Intestine Large	intestine
9	chr12:50719800-50721000	Enhancers	Pancreas	Pancrea
10	chr12:50719800-50721000	Enhancers	Sigmoid Colon	Sigmoid Colon
11	chr12:50719800-50721000	Enhancers	HepG2	liver
12	chr12:50719800-50721200	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr12:50719800-50721200	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr12:50719800-50721200	Flanking Active TSS	A549	lung
15	chr12:50719800-50721400	Enhancers	Muscle Satellite Cultured Cells	--
16	chr12:50719800-50721600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr12:50720000-50720600	Enhancers	Aorta	Aorta
18	chr12:50720000-50720800	Enhancers	Fetal Lung	lung
19	chr12:50720000-50720800	Flanking Active TSS	Hela-S3	cervix
20	chr12:50720000-50721200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr12:50720200-50721000	Enhancers	Rectal Mucosa Donor 29	rectum
22	chr12:50720200-50721200	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr12:50720400-50720600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr12:50720400-50720600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr12:50720400-50720600	Enhancers	Brain Angular Gyrus	brain
26	chr12:50720400-50720600	Enhancers	Brain Anterior Caudate	brain
27	chr12:50720400-50720600	Flanking Active TSS	Osteobl	bone
28	chr12:50720400-50720800	Enhancers	Colon Smooth Muscle	Colon
29	chr12:50720400-50720800	Enhancers	Fetal Brain Female	brain
30	chr12:50720400-50720800	Enhancers	Small Intestine	intestine
31	chr12:50720400-50721000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr12:50720400-50721000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr12:50720400-50721000	Enhancers	Brain Germinal Matrix	brain
34	chr12:50720400-50721000	Enhancers	Right Atrium	heart
35	chr12:50720400-50721000	Enhancers	HMEC	breast
36	chr12:50720400-50721000	Enhancers	HSMMtube	muscle
37	chr12:50720400-50721000	Enhancers	HUVEC	blood vessel
38	chr12:50720400-50721200	Enhancers	Stomach Mucosa	stomach
39	chr12:50720400-50721200	Enhancers	HSMM	muscle
40	chr12:50720400-50721200	Enhancers	NH-A	brain
41	chr12:50720400-50721200	Enhancers	NHDF-Ad	bronchial

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