Variant report

Variant	rs7068519
Chromosome Location	chr10:50372685-50372686
allele	C/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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 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	chr10:50184042..50185317-chr10:50372266..50373284,9	MCF-7	breast:
7	chr10:50209183..50209804-chr10:50372569..50373284,2	MCF-7	breast:
8	chr10:49866052..49867979-chr10:50372361..50373055,5	MCF-7	breast:
9	chr10:50372128..50374290-chr10:50587690..50589612,2	K562	blood:
10	chr10:50209070..50209954-chr10:50372326..50373284,5	MCF-7	breast:
11	chr10:50183053..50184790-chr10:50371419..50373904,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000165633	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11100987	0.85[ASN][1000 genomes]
rs11100991	0.85[AFR][1000 genomes]
rs12247475	0.90[ASN][1000 genomes]
rs12258104	0.86[AFR][1000 genomes]
rs12258230	0.86[AFR][1000 genomes]
rs12264188	0.90[ASN][1000 genomes]
rs12268209	0.85[AFR][1000 genomes]
rs2377951	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs2377952	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs41280541	1.00[EUR][1000 genomes]
rs41306411	0.95[EUR][1000 genomes]
rs4433499	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4442460	0.85[AFR][1000 genomes]
rs4483511	0.85[AFR][1000 genomes]
rs4550152	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs4838369	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs4838448	0.90[ASN][1000 genomes]
rs4838450	0.90[ASN][1000 genomes]
rs4838465	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs59598256	0.90[ASN][1000 genomes]
rs61743431	1.00[EUR][1000 genomes]
rs61748312	0.95[EUR][1000 genomes]
rs61848422	0.90[ASN][1000 genomes]
rs61848450	0.90[ASN][1000 genomes]
rs6537498	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs7067848	0.85[AFR][1000 genomes]
rs7068517	0.92[AFR][1000 genomes]
rs7077339	0.85[AFR][1000 genomes]
rs7083685	0.86[AFR][1000 genomes]
rs7095186	0.87[AFR][1000 genomes]
rs73302759	0.84[AFR][1000 genomes]
rs73304705	0.85[AFR][1000 genomes]
rs73304711	0.85[AFR][1000 genomes]
rs7895377	0.90[ASN][1000 genomes]
rs7904486	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7905794	1.00[JPT][hapmap]
rs9804303	0.81[AFR][1000 genomes]
rs9804328	0.85[AFR][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:44 , 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	chr10:50371200-50372800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr10:50371600-50372800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr10:50371600-50372800	Enhancers	HSMM	muscle
25	chr10:50371600-50373200	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr10:50371600-50373400	Weak transcription	Spleen	Spleen
27	chr10:50371600-50377200	Weak transcription	Primary B cells from cord blood	blood
28	chr10:50372000-50373000	Enhancers	Fetal Thymus	thymus
29	chr10:50372000-50384000	Weak transcription	Colonic Mucosa	Colon
30	chr10:50372400-50372800	Enhancers	Primary T cells fromperipheralblood	blood
31	chr10:50372400-50372800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr10:50372400-50372800	Enhancers	Brain Hippocampus Middle	brain
33	chr10:50372400-50372800	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr10:50372400-50373000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr10:50372400-50373000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr10:50372400-50373400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr10:50372400-50373600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr10:50372400-50373600	Enhancers	Fetal Muscle Trunk	muscle
39	chr10:50372400-50377000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr10:50372400-50377000	Weak transcription	NHDF-Ad	bronchial
41	chr10:50372600-50372800	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr10:50372600-50372800	Enhancers	Pancreas	Pancrea
43	chr10:50372600-50373000	Enhancers	Primary B cells from peripheral blood	blood
44	chr10:50372600-50373200	Weak transcription	Fetal Muscle Leg	muscle

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