Variant report

Variant	rs12253249
Chromosome Location	chr10:22719186-22719187
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:22716118..22719238-chr10:23342778..23345832,4	K562	blood:
2	chr10:22718997..22721198-chr10:22734620..22736191,2	K562	blood:
3	chr10:22627699..22630889-chr10:22717969..22722360,3	K562	blood:
4	chr10:22610994..22614373-chr10:22718385..22721458,3	K562	blood:
5	chr10:22303929..22306379-chr10:22718603..22721179,2	K562	blood:
6	chr10:22677540..22679205-chr10:22717546..22719752,2	K562	blood:
7	chr10:22611719..22614373-chr10:22717545..22719885,2	K562	blood:
8	chr10:22717670..22719242-chr10:22749510..22751621,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000272366	Chromatin interaction
ENSG00000168283	Chromatin interaction

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10828306	0.94[EUR][1000 genomes]
rs11012937	0.94[EUR][1000 genomes]
rs11012952	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs11012962	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs11012972	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs11012977	0.94[EUR][1000 genomes]
rs11012978	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs11012980	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs11012989	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs11013010	1.00[CEU][hapmap]
rs11552445	0.94[EUR][1000 genomes]
rs11813246	0.88[EUR][1000 genomes]
rs11814745	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs11817311	0.94[EUR][1000 genomes]
rs11817811	0.88[EUR][1000 genomes]
rs11817873	0.88[EUR][1000 genomes]
rs12241555	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs12247258	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs12261027	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs12264748	0.81[EUR][1000 genomes]
rs1342317	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs1539322	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs16922217	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs16922235	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs2066354	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs2363568	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs28496146	0.81[EUR][1000 genomes]
rs3004	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs57283505	0.94[EUR][1000 genomes]
rs57753470	0.94[EUR][1000 genomes]
rs57847001	0.81[EUR][1000 genomes]
rs58046964	0.94[EUR][1000 genomes]
rs58340985	0.94[EUR][1000 genomes]
rs60317615	0.81[EUR][1000 genomes]
rs60602527	0.81[EUR][1000 genomes]
rs60837021	0.81[EUR][1000 genomes]
rs6482209	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs6482212	1.00[CEU][hapmap]
rs6482213	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs6482214	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs6482215	0.88[EUR][1000 genomes]
rs7068522	0.81[EUR][1000 genomes]
rs7069337	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs7070356	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs7071015	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs7072212	0.94[EUR][1000 genomes]
rs7073377	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs7074430	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs7074847	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs7077927	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs7078252	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs7078770	0.81[EUR][1000 genomes]
rs7079531	0.88[EUR][1000 genomes]
rs7086239	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs7086718	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs7092483	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs7094297	0.94[EUR][1000 genomes]
rs7096866	0.94[EUR][1000 genomes]
rs7097932	0.81[EUR][1000 genomes]
rs7099268	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs7099308	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs7358106	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs7358250	0.94[EUR][1000 genomes]
rs73596598	0.81[EUR][1000 genomes]
rs73596599	0.81[EUR][1000 genomes]
rs73596601	0.81[EUR][1000 genomes]
rs73598505	0.94[EUR][1000 genomes]
rs73598507	0.94[EUR][1000 genomes]
rs73598508	0.94[EUR][1000 genomes]
rs73598512	0.94[EUR][1000 genomes]
rs73598513	0.88[EUR][1000 genomes]
rs7893132	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs7895113	0.87[EUR][1000 genomes]
rs7895751	0.94[EUR][1000 genomes]
rs7901473	0.88[EUR][1000 genomes]
rs7904538	0.94[EUR][1000 genomes]
rs7904821	0.94[EUR][1000 genomes]
rs7907844	0.94[EUR][1000 genomes]
rs7909597	0.94[EUR][1000 genomes]
rs7914254	0.88[EUR][1000 genomes]
rs7914800	0.81[EUR][1000 genomes]
rs7918271	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs7919200	0.94[EUR][1000 genomes]
rs7920038	0.94[EUR][1000 genomes]
rs7921358	0.88[EUR][1000 genomes]
rs9663254	0.81[EUR][1000 genomes]
rs9665348	0.81[EUR][1000 genomes]

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:22714600-22725200	Weak transcription	Brain Anterior Caudate	brain
2	chr10:22715600-22719200	Enhancers	HUES64 Cell Line	embryonic stem cell
3	chr10:22715600-22719400	Enhancers	HMEC	breast
4	chr10:22715600-22719600	Enhancers	Hela-S3	cervix
5	chr10:22715600-22720200	Enhancers	Placenta Amnion	Placenta Amnion
6	chr10:22715800-22719800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr10:22716000-22719200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr10:22716000-22719400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr10:22716000-22719400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr10:22716200-22719200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr10:22716200-22719200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr10:22716200-22719200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr10:22716200-22719200	Enhancers	NHLF	lung
14	chr10:22716200-22719400	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr10:22716200-22719600	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr10:22716200-22719800	Enhancers	HUVEC	blood vessel
17	chr10:22716400-22719200	Enhancers	HSMM	muscle
18	chr10:22716600-22724400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr10:22717000-22725400	Weak transcription	Placenta	Placenta
20	chr10:22717200-22719200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr10:22717400-22719400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr10:22717400-22719800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr10:22717400-22723200	Weak transcription	Adipose Nuclei	Adipose
24	chr10:22717600-22719800	Enhancers	Muscle Satellite Cultured Cells	--
25	chr10:22717600-22719800	Enhancers	A549	lung
26	chr10:22717800-22723000	Weak transcription	HSMMtube	muscle
27	chr10:22718000-22719400	Flanking Active TSS	K562	blood
28	chr10:22718000-22719600	Enhancers	NHEK	skin
29	chr10:22718000-22725400	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr10:22718200-22719200	Enhancers	Fetal Intestine Small	intestine
31	chr10:22718200-22719400	Enhancers	Fetal Stomach	stomach
32	chr10:22718200-22719600	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr10:22718400-22719200	Enhancers	Psoas Muscle	Psoas
34	chr10:22718400-22719200	Enhancers	Small Intestine	intestine
35	chr10:22718400-22722600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr10:22718600-22719200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
37	chr10:22718600-22719200	Enhancers	Stomach Mucosa	stomach
38	chr10:22718600-22722600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr10:22718800-22719200	Enhancers	Pancreas	Pancrea
40	chr10:22718800-22719400	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr10:22718800-22722000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr10:22718800-22722600	Weak transcription	NH-A	brain
43	chr10:22718800-22723400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr10:22719000-22719200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
45	chr10:22719000-22719200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
46	chr10:22719000-22719200	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
47	chr10:22719000-22719200	Flanking Active TSS	Duodenum Mucosa	Duodenum
48	chr10:22719000-22719200	Bivalent Enhancer	Fetal Muscle Leg	muscle
49	chr10:22719000-22719200	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
50	chr10:22719000-22719200	Flanking Bivalent TSS/Enh	GM12878-XiMat	blood

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