Variant report

Variant	rs2644692
Chromosome Location	chr12:117159954-117159955
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:117159604..117161644-chr12:117164288..117165947,2	MCF-7	breast:
2	chr12:117146942..117149806-chr12:117158509..117160408,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10850707	1.00[CHB][hapmap]
rs11068163	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11068167	0.83[EUR][1000 genomes]
rs11836095	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1532395	1.00[CHB][hapmap]
rs1566018	1.00[ASN][1000 genomes]
rs180304	1.00[CEU][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs180305	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[TSI][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs339448	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs339449	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs339451	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs339452	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs339454	1.00[CHB][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs339455	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs339456	1.00[CHB][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs339458	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[TSI][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs339459	1.00[CEU][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7300541	1.00[CHB][hapmap]
rs7312638	1.00[CHB][hapmap]

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	nsv832523	chr12:117090343-117273810	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117147200-117174000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr12:117147400-117173600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr12:117148600-117164200	Weak transcription	Stomach Mucosa	stomach
4	chr12:117149400-117174000	Weak transcription	K562	blood
5	chr12:117149600-117164200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr12:117150000-117162000	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr12:117150800-117172600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr12:117151000-117161800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr12:117151200-117161400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr12:117152000-117161000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr12:117152000-117161000	Strong transcription	Spleen	Spleen
12	chr12:117152000-117161200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr12:117152000-117161200	Strong transcription	Fetal Intestine Large	intestine
14	chr12:117152000-117161400	Strong transcription	Primary T cells from cord blood	blood
15	chr12:117152200-117161000	Strong transcription	Rectal Mucosa Donor 31	rectum
16	chr12:117152400-117161200	Strong transcription	Primary B cells from peripheral blood	blood
17	chr12:117152600-117161000	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr12:117152600-117161000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr12:117152800-117161400	Strong transcription	Primary T helper cells PMA-I stimulated	--
20	chr12:117153000-117161000	Strong transcription	Thymus	Thymus
21	chr12:117153000-117161000	Strong transcription	GM12878-XiMat	blood
22	chr12:117153000-117161200	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr12:117153000-117161600	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr12:117153200-117161000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr12:117153200-117161200	Strong transcription	Primary B cells from cord blood	blood
26	chr12:117153200-117161600	Strong transcription	Rectal Mucosa Donor 29	rectum
27	chr12:117153400-117161000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr12:117153400-117161000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr12:117153400-117161400	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr12:117153600-117161000	Strong transcription	Liver	Liver
31	chr12:117153800-117161600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr12:117154200-117161000	Strong transcription	NHEK	skin
33	chr12:117154800-117170600	Weak transcription	Hela-S3	cervix
34	chr12:117155000-117161600	Strong transcription	HepG2	liver
35	chr12:117155200-117161000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr12:117155600-117160200	Weak transcription	Ovary	ovary
37	chr12:117156200-117165000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr12:117156800-117161000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr12:117156800-117161000	Strong transcription	Placenta	Placenta
40	chr12:117157000-117160200	Strong transcription	Primary hematopoietic stem cells	blood
41	chr12:117157000-117161000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr12:117157000-117161000	Strong transcription	Adipose Nuclei	Adipose
43	chr12:117157000-117161200	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr12:117157200-117161000	Strong transcription	Dnd41	blood
45	chr12:117157200-117162000	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr12:117157200-117164400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr12:117157200-117170600	Weak transcription	NHDF-Ad	bronchial
48	chr12:117157200-117170600	Weak transcription	Osteobl	bone
49	chr12:117157400-117160600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr12:117157400-117161000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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