Variant report

Variant	rs56040538
Chromosome Location	chr10:52234271-52234272
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	chr10:52221096..52222915-chr10:52233294..52234795,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs55926560	1.00[AMR][1000 genomes]
rs56257817	0.80[AFR][1000 genomes]
rs57185346	0.80[AFR][1000 genomes]
rs57222480	0.80[AFR][1000 genomes]
rs58417005	0.80[AFR][1000 genomes]
rs59583053	0.80[AFR][1000 genomes]
rs74131277	1.00[AMR][1000 genomes]
rs74131281	1.00[AMR][1000 genomes]
rs74131292	0.80[AFR][1000 genomes]
rs74131295	0.80[AFR][1000 genomes]
rs74132709	0.80[AFR][1000 genomes]
rs74132710	0.80[AFR][1000 genomes]
rs74132713	0.80[AFR][1000 genomes]
rs74132715	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74132722	0.92[AFR][1000 genomes];1.00[AMR][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	nsv1054775	chr10:51595893-52392361	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1051087	chr10:51886486-52447295	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv916214	chr10:51886486-52458983	Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv918212	chr10:51886486-52465482	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv817412	chr10:51911034-52432990	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:52208000-52240200	Weak transcription	Esophagus	oesophagus
2	chr10:52218000-52240200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr10:52220000-52243600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr10:52220400-52237800	Weak transcription	Ovary	ovary
5	chr10:52229800-52242600	Weak transcription	Thymus	Thymus
6	chr10:52229800-52244000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr10:52229800-52252000	Weak transcription	Aorta	Aorta
8	chr10:52230000-52237600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr10:52230000-52240000	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr10:52230400-52236200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr10:52230400-52236400	Weak transcription	Primary B cells from cord blood	blood
12	chr10:52230400-52236400	Weak transcription	Lung	lung
13	chr10:52230400-52240000	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr10:52230600-52236000	Weak transcription	Primary hematopoietic stem cells	blood
15	chr10:52230600-52236400	Weak transcription	Fetal Thymus	thymus
16	chr10:52230600-52256400	Weak transcription	Rectal Smooth Muscle	rectum
17	chr10:52231000-52235400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr10:52231000-52235800	Weak transcription	HSMM	muscle
19	chr10:52231000-52236200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr10:52231000-52236200	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr10:52231000-52236400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr10:52231000-52237600	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr10:52231000-52239400	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr10:52231200-52235000	Weak transcription	Brain Hippocampus Middle	brain
25	chr10:52231200-52236200	Weak transcription	Fetal Lung	lung
26	chr10:52231200-52236400	Weak transcription	Primary B cells from peripheral blood	blood
27	chr10:52231200-52236400	Weak transcription	Liver	Liver
28	chr10:52231200-52236400	Weak transcription	Fetal Intestine Large	intestine
29	chr10:52231200-52236400	Weak transcription	Fetal Intestine Small	intestine
30	chr10:52231200-52236400	Weak transcription	Spleen	Spleen
31	chr10:52231200-52240000	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr10:52231200-52240200	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr10:52231200-52242000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr10:52231200-52244600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr10:52231200-52257800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr10:52231400-52235200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr10:52231400-52236400	Weak transcription	Primary T cells from cord blood	blood
38	chr10:52231400-52236600	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr10:52231400-52238600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr10:52231600-52236400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr10:52231600-52236400	Weak transcription	Placenta	Placenta
42	chr10:52231800-52243000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr10:52232200-52236200	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr10:52232400-52242400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr10:52233600-52234600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr10:52233800-52238000	Weak transcription	Small Intestine	intestine
47	chr10:52234000-52235400	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr10:52234000-52237800	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr10:52234000-52240200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr10:52234000-52240200	Weak transcription	Gastric	stomach

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