Variant report

Variant	rs376287977
Chromosome Location	chr12:123386269-123386270
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:123371782..123374478-chr12:123385509..123387711,2	K562	blood:
2	chr12:123379239..123381321-chr12:123385286..123388225,2	K562	blood:
3	chr12:123378665..123382104-chr12:123382212..123387589,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000139722	Chromatin interaction

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	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	nsv899572	chr12:123292503-123477311	Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv899573	chr12:123312051-123528405	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	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
5	nsv899576	chr12:123335527-123528405	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	esv3413472	chr12:123385966-123388318	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123381000-123387400	Weak transcription	Liver	Liver
2	chr12:123381000-123387400	Weak transcription	Fetal Heart	heart
3	chr12:123381000-123387800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:123381200-123387000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr12:123381200-123387400	Weak transcription	Fetal Brain Female	brain
6	chr12:123381200-123387600	Weak transcription	Fetal Intestine Large	intestine
7	chr12:123381200-123388400	Enhancers	Primary B cells from peripheral blood	blood
8	chr12:123383200-123387000	Enhancers	Primary T helper cells fromperipheralblood	blood
9	chr12:123383400-123386400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr12:123383600-123387000	Enhancers	Primary T cells fromperipheralblood	blood
11	chr12:123383600-123387400	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr12:123383600-123387400	Weak transcription	A549	lung
13	chr12:123383600-123387800	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr12:123383800-123386600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr12:123383800-123386600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
16	chr12:123383800-123386600	Weak transcription	Duodenum Mucosa	Duodenum
17	chr12:123383800-123386800	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr12:123383800-123387000	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr12:123383800-123387200	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr12:123383800-123387600	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr12:123383800-123387600	Weak transcription	Stomach Mucosa	stomach
22	chr12:123383800-123394600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr12:123384000-123386600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr12:123384000-123387200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr12:123384000-123387400	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr12:123384000-123387400	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr12:123384000-123387800	Weak transcription	Brain Angular Gyrus	brain
28	chr12:123384400-123387200	Weak transcription	Colonic Mucosa	Colon
29	chr12:123384400-123387400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr12:123384800-123387000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr12:123384800-123387800	Weak transcription	Primary hematopoietic stem cells	blood
32	chr12:123384800-123387800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr12:123384800-123387800	Weak transcription	Fetal Thymus	thymus
34	chr12:123384800-123387800	Weak transcription	Pancreas	Pancrea
35	chr12:123385000-123387400	Weak transcription	HepG2	liver
36	chr12:123385400-123386400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
37	chr12:123385600-123386400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr12:123386000-123386400	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr12:123386000-123386400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr12:123386000-123386400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr12:123386000-123386400	Flanking Active TSS	GM12878-XiMat	blood
42	chr12:123386000-123386400	Flanking Active TSS	K562	blood
43	chr12:123386000-123386600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
44	chr12:123386000-123386600	Enhancers	Placenta Amnion	Placenta Amnion
45	chr12:123386000-123386600	Enhancers	Dnd41	blood
46	chr12:123386200-123386400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr12:123386200-123386400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr12:123386200-123386400	Enhancers	Fetal Intestine Small	intestine
49	chr12:123386200-123386600	Flanking Active TSS	Primary B cells from cord blood	blood
50	chr12:123386200-123386600	Flanking Active TSS	Primary T cells from cord blood	blood

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