Variant report

Variant	rs542517983
Chromosome Location	chr12:123587660-123587661
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:123546664..123549233-chr12:123586175..123588803,2	MCF-7	breast:
2	chr12:123570325..123572939-chr12:123584835..123587723,2	K562	blood:
3	chr12:123578867..123580732-chr12:123586590..123589378,3	MCF-7	breast:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3388790	chr12:123275902-123655103	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv517200	chr12:123312051-123654498	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv832533	chr12:123395927-123589290	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv427924	chr12:123412172-123722059	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
5	nsv1042550	chr12:123532028-123659500	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	esv1825473	chr12:123582855-123822503	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
7	nsv870326	chr12:123585990-123719323	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123561200-123590000	Weak transcription	Fetal Intestine Small	intestine
2	chr12:123561600-123604000	Genic enhancers	Fetal Thymus	thymus
3	chr12:123567400-123588000	Enhancers	Left Ventricle	heart
4	chr12:123571200-123600000	Genic enhancers	Thymus	Thymus
5	chr12:123576400-123589400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr12:123576600-123588600	Enhancers	Right Ventricle	heart
7	chr12:123577000-123590400	Weak transcription	Primary hematopoietic stem cells	blood
8	chr12:123577400-123589600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr12:123577400-123590200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr12:123579800-123593600	Weak transcription	Fetal Intestine Large	intestine
11	chr12:123579800-123596200	Weak transcription	Osteobl	bone
12	chr12:123580000-123589400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr12:123580000-123589800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr12:123580000-123592600	Weak transcription	NHEK	skin
15	chr12:123580000-123593800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr12:123580200-123587800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr12:123580200-123589600	Weak transcription	Spleen	Spleen
18	chr12:123580200-123589600	Weak transcription	HMEC	breast
19	chr12:123580200-123590200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr12:123580200-123593200	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr12:123580600-123596000	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr12:123581000-123589400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr12:123581000-123590000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr12:123581000-123593000	Weak transcription	Pancreas	Pancrea
25	chr12:123581200-123593000	Weak transcription	Brain Germinal Matrix	brain
26	chr12:123581400-123591600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr12:123582200-123591200	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr12:123582600-123591200	Weak transcription	Brain Hippocampus Middle	brain
29	chr12:123582800-123589400	Weak transcription	Placenta	Placenta
30	chr12:123582800-123591200	Weak transcription	Duodenum Mucosa	Duodenum
31	chr12:123582800-123591400	Weak transcription	Brain Substantia Nigra	brain
32	chr12:123582800-123592600	Weak transcription	Gastric	stomach
33	chr12:123583000-123589400	Weak transcription	Psoas Muscle	Psoas
34	chr12:123583000-123591200	Weak transcription	Rectal Smooth Muscle	rectum
35	chr12:123583000-123591400	Weak transcription	HSMM	muscle
36	chr12:123583000-123595800	Weak transcription	NHDF-Ad	bronchial
37	chr12:123583200-123587800	Weak transcription	NHLF	lung
38	chr12:123583200-123599600	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr12:123583600-123591800	Weak transcription	HSMMtube	muscle
40	chr12:123583600-123592000	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr12:123584600-123587800	Weak transcription	Ovary	ovary
42	chr12:123584600-123593400	Weak transcription	Colonic Mucosa	Colon
43	chr12:123584800-123590200	Weak transcription	Primary B cells from peripheral blood	blood
44	chr12:123584800-123591800	Weak transcription	Colon Smooth Muscle	Colon
45	chr12:123585400-123590400	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr12:123585800-123590400	Weak transcription	Brain Angular Gyrus	brain
47	chr12:123586000-123588000	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr12:123586000-123588200	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr12:123586000-123588200	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr12:123586000-123588400	Enhancers	ES-I3 Cell Line	embryonic stem cell

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