Variant report

Variant	rs2002728
Chromosome Location	chr10:50371156-50371157
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:50350582..50352155-chr10:50369514..50372257,2	K562	blood:
2	chr10:50321508..50325682-chr10:50370316..50373031,3	K562	blood:
3	chr10:50364786..50371686-chr10:50371829..50376692,10	K562	blood:
4	chr10:50340460..50342159-chr10:50369270..50372220,2	K562	blood:
5	chr10:50186224..50189780-chr10:50370738..50372313,3	K562	blood:

Variant related genes	Relation type
ENSG00000172538	Chromatin interaction
ENSG00000165633	Chromatin interaction
ENSG00000204161	Chromatin interaction
ENSG00000128815	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10218995	0.94[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs12198	1.00[CEU][hapmap];0.94[CHB][hapmap];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2003044	0.84[CHB][hapmap]
rs2377953	0.88[ASN][1000 genomes]
rs2466744	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2466748	0.92[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2466756	0.83[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2490837	0.84[ASN][1000 genomes]
rs2725180	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2725183	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2725186	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2725187	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2725188	0.81[ASN][1000 genomes]
rs2725192	0.83[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2725193	0.88[ASN][1000 genomes]
rs2725200	0.83[JPT][hapmap]
rs2804931	0.84[CHB][hapmap]
rs2804932	0.84[CHB][hapmap]
rs2804933	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2804935	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2804936	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2804938	1.00[CEU][hapmap];0.94[CHB][hapmap];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2804942	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4317904	0.82[EUR][1000 genomes]
rs4319434	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4319435	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4421674	0.82[EUR][1000 genomes]
rs4558091	0.83[JPT][hapmap]
rs4620641	0.83[JPT][hapmap]
rs4838446	0.83[JPT][hapmap]
rs6537499	0.96[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7072243	0.83[JPT][hapmap]
rs7073645	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7094217	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73304793	0.87[ASN][1000 genomes]
rs9418839	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895375	chr10:50306386-51028871	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv534410	chr10:50317458-50826916	Weak transcription Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50359000-50382200	Weak transcription	Left Ventricle	heart
2	chr10:50359200-50375400	Weak transcription	Right Atrium	heart
3	chr10:50359400-50373400	Weak transcription	Right Ventricle	heart
4	chr10:50359400-50374000	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr10:50362400-50380600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr10:50365400-50374800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr10:50365400-50374800	Weak transcription	Lung	lung
8	chr10:50366000-50373600	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr10:50366200-50378200	Weak transcription	Stomach Smooth Muscle	stomach
10	chr10:50366800-50372400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr10:50366800-50375400	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr10:50367600-50376200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr10:50367600-50384600	Weak transcription	Dnd41	blood
14	chr10:50368000-50371600	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr10:50368000-50375600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr10:50368200-50380800	Weak transcription	Esophagus	oesophagus
17	chr10:50368600-50372600	Weak transcription	Primary B cells from peripheral blood	blood
18	chr10:50369000-50377200	Weak transcription	Brain Angular Gyrus	brain
19	chr10:50369600-50371600	Weak transcription	NHLF	lung
20	chr10:50369600-50372400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr10:50369600-50372400	Weak transcription	Brain Hippocampus Middle	brain
22	chr10:50369600-50380400	Weak transcription	Gastric	stomach
23	chr10:50369800-50372400	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr10:50369800-50373200	Weak transcription	Adipose Nuclei	Adipose
25	chr10:50369800-50373600	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr10:50370000-50371400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr10:50370000-50371400	Weak transcription	NH-A	brain
28	chr10:50370000-50372000	Weak transcription	Fetal Thymus	thymus
29	chr10:50370000-50372200	Weak transcription	Fetal Muscle Leg	muscle
30	chr10:50370000-50372400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr10:50370000-50375000	Weak transcription	Brain Substantia Nigra	brain
32	chr10:50370200-50371600	Weak transcription	HSMM	muscle
33	chr10:50370200-50373600	Genic enhancers	K562	blood
34	chr10:50370400-50371400	Weak transcription	Osteobl	bone
35	chr10:50370600-50371600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr10:50370600-50371600	Strong transcription	Spleen	Spleen
37	chr10:50370800-50371200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr10:50370800-50371200	Weak transcription	NHDF-Ad	bronchial
39	chr10:50370800-50372400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr10:50371000-50371200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
41	chr10:50371000-50373200	Weak transcription	Duodenum Mucosa	Duodenum

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