Variant report

Variant	rs12314334
Chromosome Location	chr12:116998061-116998062
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:116870822..116873673-chr12:116997281..116998903,2	MCF-7	breast:
2	chr12:116976160..116978024-chr12:116997996..116999867,2	K562	blood:
3	chr12:116968953..116973759-chr12:116995509..116998903,7	K562	blood:
4	chr12:116931521..116933253-chr12:116997598..116999273,2	MCF-7	breast:
5	chr12:116997056..116999076-chr12:122230249..122232872,2	K562	blood:

Variant related genes	Relation type
ENSG00000196668	Chromatin interaction
ENSG00000139725	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs12312811	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899540	chr12:116920503-116999861	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:116995200-116999600	Enhancers	Fetal Muscle Leg	muscle
2	chr12:116995600-116998400	Enhancers	Fetal Muscle Trunk	muscle
3	chr12:116996800-116999200	Weak transcription	Spleen	Spleen
4	chr12:116997000-116998400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:116997200-116998200	Active TSS	Thymus	Thymus
6	chr12:116997400-117001800	Weak transcription	Fetal Lung	lung
7	chr12:116997600-116998200	Active TSS	Primary T cells from cord blood	blood
8	chr12:116997600-116999000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr12:116997600-116999200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr12:116997600-116999200	Enhancers	GM12878-XiMat	blood
11	chr12:116997600-116999400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr12:116997600-116999600	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr12:116997600-116999800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
14	chr12:116997600-117000000	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr12:116997600-117000000	Enhancers	Primary hematopoietic stem cells	blood
16	chr12:116997800-116998200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr12:116997800-116998200	Active TSS	Primary neutrophils fromperipheralblood	blood
18	chr12:116997800-116998200	Active TSS	Dnd41	blood
19	chr12:116997800-116998200	Weak transcription	HSMMtube	muscle
20	chr12:116997800-116998200	Active TSS	K562	blood
21	chr12:116997800-116998400	Enhancers	HSMM	muscle
22	chr12:116997800-116998600	Enhancers	Duodenum Mucosa	Duodenum
23	chr12:116997800-116998600	Weak transcription	Right Atrium	heart
24	chr12:116997800-116998800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr12:116997800-116999200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr12:116997800-116999400	Weak transcription	Placenta	Placenta
27	chr12:116997800-116999600	Enhancers	Primary T cells fromperipheralblood	blood
28	chr12:116997800-116999800	Enhancers	Primary B cells from peripheral blood	blood
29	chr12:116997800-116999800	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr12:116997800-117000000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr12:116997800-117000000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr12:116997800-117000200	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr12:116997800-117000200	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr12:116997800-117000600	Weak transcription	Stomach Mucosa	stomach
35	chr12:116998000-116998200	Enhancers	Primary B cells from cord blood	blood
36	chr12:116998000-116998400	Enhancers	HMEC	breast
37	chr12:116998000-116998400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
38	chr12:116998000-116999000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr12:116998000-116999200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr12:116998000-116999200	Weak transcription	Fetal Intestine Small	intestine
41	chr12:116998000-116999400	Weak transcription	Fetal Intestine Large	intestine
42	chr12:116998000-116999600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
43	chr12:116998000-116999600	Enhancers	Fetal Thymus	thymus
44	chr12:116998000-117000000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
45	chr12:116998000-117000000	Enhancers	Primary T helper cells fromperipheralblood	blood
46	chr12:116998000-117001800	Weak transcription	NHEK	skin

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