Variant report

Variant	rs11597597
Chromosome Location	chr10:5795432-5795433
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:5795316..5797581-chr10:5797846..5800735,2	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10508297	1.00[EUR][1000 genomes]
rs11592184	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11592260	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11592964	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11593253	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11593616	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11594153	0.88[ASN][1000 genomes]
rs11595445	1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11595457	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11595970	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11596603	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11596815	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11596959	0.85[ASN][1000 genomes]
rs11597948	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11598319	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11598629	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2892072	0.94[ASN][1000 genomes]
rs4749325	1.00[EUR][1000 genomes]
rs57034347	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57075354	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58782668	0.88[ASN][1000 genomes]
rs59511159	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60255716	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61611877	1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs61658636	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534685	chr10:4914018-5853324	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	esv2759729	chr10:5557024-5804780	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	esv2758209	chr10:5637111-5804780	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	esv34147	chr10:5726821-6105717	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	esv34061	chr10:5726821-6225187	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
6	nsv1042286	chr10:5795129-6578445	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5762600-5843400	Strong transcription	Dnd41	blood
2	chr10:5762800-5843000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr10:5768000-5849400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr10:5777000-5795800	Strong transcription	Fetal Thymus	thymus
5	chr10:5779000-5804600	Strong transcription	A549	lung
6	chr10:5779200-5796600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr10:5781400-5818600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr10:5781600-5796200	Strong transcription	Fetal Muscle Leg	muscle
9	chr10:5781600-5796400	Strong transcription	Placenta	Placenta
10	chr10:5783400-5796600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr10:5783400-5816600	Strong transcription	Primary B cells from peripheral blood	blood
12	chr10:5784800-5799400	Weak transcription	Colon Smooth Muscle	Colon
13	chr10:5784800-5818000	Weak transcription	Stomach Mucosa	stomach
14	chr10:5785800-5796800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr10:5786200-5816400	Weak transcription	Right Atrium	heart
16	chr10:5788000-5818000	Strong transcription	Duodenum Mucosa	Duodenum
17	chr10:5789200-5795600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr10:5789200-5795800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr10:5789200-5798600	Weak transcription	Brain Angular Gyrus	brain
20	chr10:5789200-5799000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr10:5789200-5804400	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr10:5789400-5798600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr10:5790200-5795800	Strong transcription	Primary T cells from cord blood	blood
24	chr10:5790400-5798800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr10:5790600-5798400	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr10:5790600-5800200	Weak transcription	Fetal Brain Male	brain
27	chr10:5790800-5798600	Weak transcription	Brain Substantia Nigra	brain
28	chr10:5790800-5799000	Weak transcription	HSMMtube	muscle
29	chr10:5790800-5799200	Weak transcription	HUVEC	blood vessel
30	chr10:5791000-5798600	Weak transcription	Brain Cingulate Gyrus	brain
31	chr10:5791200-5798000	Weak transcription	HMEC	breast
32	chr10:5791200-5799200	Weak transcription	Small Intestine	intestine
33	chr10:5791400-5798400	Weak transcription	Colonic Mucosa	Colon
34	chr10:5791400-5798600	Weak transcription	Fetal Kidney	kidney
35	chr10:5791400-5798600	Weak transcription	Rectal Smooth Muscle	rectum
36	chr10:5791400-5798800	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr10:5791600-5798400	Weak transcription	Psoas Muscle	Psoas
38	chr10:5791600-5798600	Weak transcription	Brain Germinal Matrix	brain
39	chr10:5791600-5798600	Weak transcription	Left Ventricle	heart
40	chr10:5791600-5798600	Weak transcription	Ovary	ovary
41	chr10:5791800-5798200	Weak transcription	Hela-S3	cervix
42	chr10:5791800-5799000	Weak transcription	NHEK	skin
43	chr10:5792000-5798600	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr10:5792000-5799000	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr10:5792000-5799200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr10:5792000-5799400	Weak transcription	Fetal Heart	heart
47	chr10:5792400-5798200	Weak transcription	NH-A	brain
48	chr10:5792600-5798800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr10:5792800-5795800	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr10:5793400-5795800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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