Variant report

Variant	rs2253683
Chromosome Location	chr10:116360503-116360504
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	chr10:116359202..116360862-chr10:116383817..116385485,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1413193	0.85[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap];0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1413194	0.85[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1413195	0.84[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1537490	0.85[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1537491	0.84[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1537492	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2253338	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2483567	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2483586	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2497656	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2497658	0.85[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap];0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2497659	0.85[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2497660	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2497661	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2497662	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2497664	0.92[CEU][hapmap];0.91[CHB][hapmap];0.89[JPT][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1037308	chr10:116141946-116519765	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv540780	chr10:116141946-116519765	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv949138	chr10:116311531-116874477	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1038050	chr10:116315109-116895719	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv533027	chr10:116344641-116856352	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:116337800-116362600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr10:116345000-116382400	Weak transcription	HSMM	muscle
3	chr10:116345800-116364000	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr10:116352200-116360600	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr10:116352600-116367600	Weak transcription	Ovary	ovary
6	chr10:116353000-116364200	Weak transcription	Psoas Muscle	Psoas
7	chr10:116353200-116364600	Weak transcription	Brain Hippocampus Middle	brain
8	chr10:116353400-116361200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr10:116353400-116364000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr10:116354200-116360600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr10:116354600-116364600	Weak transcription	Gastric	stomach
12	chr10:116354800-116378600	Weak transcription	Fetal Stomach	stomach
13	chr10:116355000-116363000	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr10:116355400-116364200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr10:116355400-116371000	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr10:116356400-116364000	Weak transcription	Fetal Kidney	kidney
17	chr10:116356400-116364200	Weak transcription	Brain Substantia Nigra	brain
18	chr10:116356600-116364200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr10:116357000-116363000	Weak transcription	HepG2	liver
20	chr10:116357600-116362000	Weak transcription	Fetal Heart	heart
21	chr10:116357600-116364600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr10:116357600-116365600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr10:116357800-116362800	Weak transcription	Brain Anterior Caudate	brain
24	chr10:116357800-116364400	Weak transcription	Small Intestine	intestine
25	chr10:116358600-116362400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr10:116358600-116363800	Weak transcription	Fetal Lung	lung
27	chr10:116358600-116364600	Weak transcription	Aorta	Aorta
28	chr10:116358800-116362400	Strong transcription	Liver	Liver
29	chr10:116359200-116361600	Strong transcription	Fetal Intestine Small	intestine
30	chr10:116359200-116366600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr10:116359800-116360600	Strong transcription	Brain Angular Gyrus	brain
32	chr10:116359800-116360600	Strong transcription	Lung	lung
33	chr10:116359800-116361000	Strong transcription	Adipose Nuclei	Adipose
34	chr10:116359800-116361200	Strong transcription	Stomach Smooth Muscle	stomach
35	chr10:116359800-116361800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr10:116359800-116361800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr10:116359800-116362000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
38	chr10:116360000-116360600	Strong transcription	Primary hematopoietic stem cells	blood
39	chr10:116360000-116360600	Enhancers	Right Atrium	heart
40	chr10:116360000-116360800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr10:116360000-116360800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr10:116360000-116360800	Genic enhancers	Left Ventricle	heart
43	chr10:116360000-116361400	Strong transcription	Fetal Muscle Trunk	muscle
44	chr10:116360000-116361600	Strong transcription	Fetal Intestine Large	intestine
45	chr10:116360000-116361600	Genic enhancers	Right Ventricle	heart
46	chr10:116360000-116361800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr10:116360000-116361800	Strong transcription	Pancreas	Pancrea
48	chr10:116360000-116363800	Weak transcription	Duodenum Mucosa	Duodenum
49	chr10:116360200-116360600	Enhancers	Esophagus	oesophagus
50	chr10:116360200-116361000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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