Variant report

Variant	rs531358300
Chromosome Location	chr12:105062494-105062495
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:105058711..105060568-chr12:105060873..105063614,2	K562	blood:
2	chr12:105060606..105063528-chr12:105064614..105066569,2	K562	blood:
3	chr12:105047695..105049716-chr12:105062414..105064502,2	MCF-7	breast:
4	chr12:105061726..105063507-chr12:105070074..105072816,2	MCF-7	breast:

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1050695	chr12:105000981-105125161	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv541589	chr12:105000981-105125161	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv3439380	chr12:105062222-105066520	Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105038400-105062600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr12:105038600-105062800	Weak transcription	Esophagus	oesophagus
3	chr12:105038600-105063200	Weak transcription	Primary T cells from cord blood	blood
4	chr12:105051000-105065000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr12:105051800-105065000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:105055400-105062600	Genic enhancers	Dnd41	blood
7	chr12:105056000-105062600	Weak transcription	Small Intestine	intestine
8	chr12:105057800-105063000	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr12:105058000-105063200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr12:105058400-105062800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:105059200-105063200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr12:105059600-105063000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr12:105060200-105068400	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr12:105060400-105062600	Enhancers	Brain Hippocampus Middle	brain
15	chr12:105060400-105063000	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr12:105060400-105063200	Enhancers	Brain Substantia Nigra	brain
17	chr12:105060400-105066800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr12:105060400-105067000	Enhancers	Pancreas	Pancrea
19	chr12:105060600-105063200	Enhancers	Brain Anterior Caudate	brain
20	chr12:105060600-105064000	Enhancers	Fetal Brain Female	brain
21	chr12:105060600-105064400	Enhancers	A549	lung
22	chr12:105060600-105064600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr12:105060600-105066200	Enhancers	Fetal Lung	lung
24	chr12:105060600-105066600	Enhancers	Brain Cingulate Gyrus	brain
25	chr12:105060800-105065800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr12:105060800-105067800	Enhancers	Placenta	Placenta
27	chr12:105061000-105067800	Enhancers	Gastric	stomach
28	chr12:105061000-105068000	Enhancers	Fetal Muscle Leg	muscle
29	chr12:105061000-105068200	Enhancers	Fetal Stomach	stomach
30	chr12:105061200-105063000	Enhancers	Right Ventricle	heart
31	chr12:105061200-105063200	Weak transcription	Liver	Liver
32	chr12:105061200-105066200	Enhancers	Duodenum Mucosa	Duodenum
33	chr12:105061200-105067200	Enhancers	Adipose Nuclei	Adipose
34	chr12:105061200-105067200	Enhancers	Left Ventricle	heart
35	chr12:105061200-105067800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr12:105061200-105068200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr12:105061400-105062600	Genic enhancers	Primary T cells fromperipheralblood	blood
38	chr12:105061400-105062600	Enhancers	Brain Germinal Matrix	brain
39	chr12:105061400-105063800	Flanking Active TSS	Stomach Smooth Muscle	stomach
40	chr12:105061400-105064200	Bivalent Enhancer	Stomach Mucosa	stomach
41	chr12:105061400-105065600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr12:105061400-105066200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr12:105061400-105067200	Enhancers	Brain Angular Gyrus	brain
44	chr12:105061600-105062600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr12:105061600-105062800	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr12:105061600-105063000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr12:105061600-105064000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr12:105061600-105066000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
49	chr12:105061600-105066200	Enhancers	Fetal Brain Male	brain
50	chr12:105061800-105062800	Weak transcription	Primary T helper cells PMA-I stimulated	--

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