Variant report

Variant	rs2804932
Chromosome Location	chr10:50372950-50372951
allele	A/C/G/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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:50188936..50190031-chr10:50371953..50373337,3	K562	blood:
2	chr10:50321508..50325682-chr10:50370316..50373031,3	K562	blood:
3	chr10:50189042..50190060-chr10:50372301..50373296,9	MCF-7	breast:
4	chr10:50363165..50364785-chr10:50372172..50374062,3	K562	blood:
5	chr10:50183980..50184896-chr10:50372322..50373497,3	MCF-7	breast:
6	chr10:50372843..50375654-chr10:50384413..50387038,2	MCF-7	breast:
7	chr10:50184042..50185317-chr10:50372266..50373284,9	MCF-7	breast:
8	chr10:50209183..50209804-chr10:50372569..50373284,2	MCF-7	breast:
9	chr10:49866052..49867979-chr10:50372361..50373055,5	MCF-7	breast:
10	chr10:50372128..50374290-chr10:50587690..50589612,2	K562	blood:
11	chr10:50209070..50209954-chr10:50372326..50373284,5	MCF-7	breast:
12	chr10:50183053..50184790-chr10:50371419..50373904,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000204161	Chromatin interaction
ENSG00000165633	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10508910	0.83[GIH][hapmap];0.88[YRI][hapmap]
rs11100988	0.86[CHB][hapmap]
rs11100989	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs11100990	0.89[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap]
rs12240534	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs12253763	0.88[MEX][hapmap]
rs12255055	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs12411415	0.82[AMR][1000 genomes]
rs12762834	0.88[YRI][hapmap]
rs12762859	0.88[YRI][hapmap]
rs12763447	0.88[YRI][hapmap]
rs12765281	0.89[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]
rs12774117	0.88[YRI][hapmap]
rs12776211	0.82[MEX][hapmap]
rs12777282	0.85[CEU][hapmap];0.87[YRI][hapmap];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17175928	0.83[GIH][hapmap];0.88[MEX][hapmap];0.91[TSI][hapmap];0.88[YRI][hapmap]
rs17773851	0.88[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]
rs17782691	0.88[YRI][hapmap]
rs17782733	0.85[CEU][hapmap];0.88[CHB][hapmap];0.91[JPT][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1986725	0.89[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2002728	0.84[CHB][hapmap]
rs2003044	1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.92[ASN][1000 genomes]
rs2490838	0.83[ASN][1000 genomes]
rs2725179	0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.88[ASN][1000 genomes]
rs2725181	0.86[ASW][hapmap];0.94[CHB][hapmap];0.92[CHD][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.88[ASN][1000 genomes]
rs2725184	0.81[ASN][1000 genomes]
rs2725185	0.83[ASN][1000 genomes]
rs2725190	0.83[ASN][1000 genomes]
rs2725194	1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2725200	0.88[CHB][hapmap];0.89[CHD][hapmap];0.94[MEX][hapmap]
rs2804928	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2804930	0.88[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.94[MEX][hapmap];0.88[ASN][1000 genomes]
rs2804931	1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.95[ASN][1000 genomes]
rs2804933	0.83[CHB][hapmap]
rs2804934	0.94[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2804937	0.88[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.84[ASN][1000 genomes]
rs2804939	0.89[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2804940	0.83[ASN][1000 genomes]
rs2804941	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34056748	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34436721	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34786393	0.87[EUR][1000 genomes]
rs35007047	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35285557	0.87[EUR][1000 genomes]
rs35586957	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4073138	0.81[ASN][1000 genomes]
rs4073139	0.81[ASN][1000 genomes]
rs4073712	0.86[CHB][hapmap]
rs4293050	0.82[MEX][hapmap];0.91[TSI][hapmap]
rs4298825	1.00[ASW][hapmap];0.85[CEU][hapmap];0.87[GIH][hapmap];0.94[MEX][hapmap];0.91[TSI][hapmap];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4342944	0.88[YRI][hapmap]
rs4344406	0.88[CHB][hapmap]
rs4350286	0.89[CHB][hapmap];1.00[JPT][hapmap]
rs4417190	0.88[CHB][hapmap]
rs4488117	1.00[ASW][hapmap];0.85[CEU][hapmap];0.87[GIH][hapmap];0.94[MEX][hapmap];0.91[TSI][hapmap];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4495812	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4558091	0.89[CHB][hapmap]
rs4620641	0.89[CHB][hapmap]
rs4838446	0.89[CHB][hapmap]
rs67269950	0.81[ASN][1000 genomes]
rs7072243	0.89[CHB][hapmap]
rs7082096	0.82[MEX][hapmap]
rs7100655	0.89[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap]
rs7910476	0.82[MEX][hapmap];0.85[AMR][1000 genomes]
rs7922957	0.82[AMR][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:43 , 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	chr10:50366800-50375400	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr10:50367600-50376200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr10:50367600-50384600	Weak transcription	Dnd41	blood
13	chr10:50368000-50375600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr10:50368200-50380800	Weak transcription	Esophagus	oesophagus
15	chr10:50369000-50377200	Weak transcription	Brain Angular Gyrus	brain
16	chr10:50369600-50380400	Weak transcription	Gastric	stomach
17	chr10:50369800-50373200	Weak transcription	Adipose Nuclei	Adipose
18	chr10:50369800-50373600	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr10:50370000-50375000	Weak transcription	Brain Substantia Nigra	brain
20	chr10:50370200-50373600	Genic enhancers	K562	blood
21	chr10:50371000-50373200	Weak transcription	Duodenum Mucosa	Duodenum
22	chr10:50371600-50373200	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr10:50371600-50373400	Weak transcription	Spleen	Spleen
24	chr10:50371600-50377200	Weak transcription	Primary B cells from cord blood	blood
25	chr10:50372000-50373000	Enhancers	Fetal Thymus	thymus
26	chr10:50372000-50384000	Weak transcription	Colonic Mucosa	Colon
27	chr10:50372400-50373000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr10:50372400-50373000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr10:50372400-50373400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr10:50372400-50373600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr10:50372400-50373600	Enhancers	Fetal Muscle Trunk	muscle
32	chr10:50372400-50377000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr10:50372400-50377000	Weak transcription	NHDF-Ad	bronchial
34	chr10:50372600-50373000	Enhancers	Primary B cells from peripheral blood	blood
35	chr10:50372600-50373200	Weak transcription	Fetal Muscle Leg	muscle
36	chr10:50372800-50373400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr10:50372800-50373800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr10:50372800-50374000	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr10:50372800-50374200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr10:50372800-50375600	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr10:50372800-50376800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr10:50372800-50377600	Weak transcription	Brain Hippocampus Middle	brain
43	chr10:50372800-50386200	Weak transcription	Pancreas	Pancrea

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