Variant report

Variant	rs80241602
Chromosome Location	chr12:118649082-118649083
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053785	chr12:118490955-118874194	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1035497	chr12:118599539-118732144	Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv541612	chr12:118599539-118732144	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv524938	chr12:118624736-118740675	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1038224	chr12:118648415-118791388	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1040061	chr12:118648415-118800437	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118620200-118656400	Weak transcription	HepG2	liver
2	chr12:118621000-118682600	Weak transcription	A549	lung
3	chr12:118628400-118697200	Weak transcription	Psoas Muscle	Psoas
4	chr12:118628800-118650000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr12:118628800-118672600	Weak transcription	Colon Smooth Muscle	Colon
6	chr12:118628800-118673000	Weak transcription	NH-A	brain
7	chr12:118629800-118652400	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr12:118630800-118650000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr12:118636800-118658600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr12:118636800-118695000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr12:118637000-118652200	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr12:118637200-118654400	Weak transcription	Stomach Smooth Muscle	stomach
13	chr12:118637200-118700600	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr12:118637200-118700800	Weak transcription	Fetal Muscle Leg	muscle
15	chr12:118637400-118649200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr12:118637400-118653600	Weak transcription	Ovary	ovary
17	chr12:118637400-118658200	Weak transcription	Brain Anterior Caudate	brain
18	chr12:118637400-118671400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr12:118637400-118672400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr12:118637400-118684200	Weak transcription	Pancreas	Pancrea
21	chr12:118637400-118694200	Weak transcription	Brain Angular Gyrus	brain
22	chr12:118637400-118701400	Weak transcription	Spleen	Spleen
23	chr12:118637400-118703800	Weak transcription	Esophagus	oesophagus
24	chr12:118637400-118724000	Weak transcription	Aorta	Aorta
25	chr12:118637600-118673000	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr12:118637800-118650000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr12:118638600-118650200	Weak transcription	HUVEC	blood vessel
28	chr12:118638600-118651400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr12:118638800-118651400	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr12:118638800-118651600	Weak transcription	Lung	lung
31	chr12:118638800-118654400	Weak transcription	Colonic Mucosa	Colon
32	chr12:118638800-118687800	Weak transcription	Gastric	stomach
33	chr12:118639000-118650000	Weak transcription	Fetal Lung	lung
34	chr12:118639000-118672200	Weak transcription	Placenta	Placenta
35	chr12:118639000-118672200	Weak transcription	Left Ventricle	heart
36	chr12:118639000-118672800	Weak transcription	Small Intestine	intestine
37	chr12:118639200-118649800	Weak transcription	Adipose Nuclei	Adipose
38	chr12:118639200-118650200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr12:118639200-118650800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr12:118639200-118651400	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr12:118639200-118651600	Weak transcription	Fetal Thymus	thymus
42	chr12:118639200-118658000	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr12:118639200-118658200	Weak transcription	Brain Cingulate Gyrus	brain
44	chr12:118639400-118651400	Weak transcription	NHEK	skin
45	chr12:118639400-118660800	Weak transcription	HSMMtube	muscle
46	chr12:118639400-118661800	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr12:118639400-118674800	Weak transcription	HMEC	breast
48	chr12:118639800-118649200	Weak transcription	HSMM	muscle
49	chr12:118639800-118649400	Weak transcription	NHLF	lung
50	chr12:118639800-118649800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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