Variant report

Variant	rs534056039
Chromosome Location	chr12:104151984-104151985
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899480	chr12:104092996-104211440	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active 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	7 gene(s)	inside rSNPs	diseases
2	nsv899481	chr12:104092996-104213731	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv899482	chr12:104092996-104218956	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	esv34031	chr12:104114277-104298546	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
5	nsv899483	chr12:104117462-104218956	Weak transcription ZNF genes & repeats Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv899486	chr12:104118587-104170474	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv899487	chr12:104118587-104218956	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv899489	chr12:104144835-104218956	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv899490	chr12:104149022-104218956	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv899491	chr12:104151560-104175575	Genic enhancers Strong transcription Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv899492	chr12:104151560-104183658	Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr12:104139200-104154200	Weak transcription	Rectal Smooth Muscle	rectum
2	chr12:104140600-104154600	Weak transcription	Aorta	Aorta
3	chr12:104142600-104152200	Weak transcription	HMEC	breast
4	chr12:104142800-104152000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr12:104142800-104154600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:104142800-104154600	Weak transcription	NHEK	skin
7	chr12:104145600-104154800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr12:104145800-104152000	Weak transcription	HSMMtube	muscle
9	chr12:104145800-104152400	Weak transcription	Esophagus	oesophagus
10	chr12:104145800-104166800	Weak transcription	Right Atrium	heart
11	chr12:104146000-104154600	Weak transcription	HSMM	muscle
12	chr12:104146200-104169400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr12:104147000-104152200	Strong transcription	Spleen	Spleen
14	chr12:104147000-104159600	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr12:104147000-104165400	Strong transcription	Stomach Smooth Muscle	stomach
16	chr12:104147400-104155800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr12:104148000-104154200	Weak transcription	Colon Smooth Muscle	Colon
18	chr12:104148200-104154400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr12:104148800-104152200	Weak transcription	Gastric	stomach
20	chr12:104149000-104156800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr12:104149200-104154200	Weak transcription	A549	lung
22	chr12:104149400-104152200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr12:104149600-104153800	Weak transcription	Liver	Liver
24	chr12:104150000-104156600	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr12:104150000-104166800	Weak transcription	Brain Cingulate Gyrus	brain
26	chr12:104150600-104154200	Weak transcription	Placenta	Placenta
27	chr12:104150600-104155200	Weak transcription	Fetal Intestine Small	intestine
28	chr12:104151200-104153000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr12:104151200-104153200	Strong transcription	Fetal Stomach	stomach
30	chr12:104151400-104152600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr12:104151400-104152800	Enhancers	Fetal Muscle Trunk	muscle
32	chr12:104151400-104154800	Weak transcription	NH-A	brain
33	chr12:104151400-104158000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr12:104151600-104152200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr12:104151600-104152800	Enhancers	Fetal Muscle Leg	muscle
36	chr12:104151600-104152800	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr12:104151600-104155000	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr12:104151600-104170400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr12:104151800-104152000	Enhancers	Lung	lung
40	chr12:104151800-104152600	Enhancers	Psoas Muscle	Psoas
41	chr12:104151800-104154800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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