Variant report

Variant	nsv8661
Chromosome Location	chr10:52356909-52360389
allele	n/a
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:52337504..52344093-chr10:52356709..52361052,9	K562	blood:
2	chr10:52356946..52359627-chr10:52382756..52385270,2	K562	blood:
3	chr10:52356255..52358116-chr10:52383809..52386039,2	MCF-7	breast:
4	chr10:52359260..52360848-chr10:52387112..52388927,2	K562	blood:
5	chr10:52351092..52355625-chr10:52355822..52361152,8	K562	blood:
6	chr10:52319643..52322201-chr10:52358538..52360204,2	MCF-7	breast:
7	chr10:52338640..52342298-chr10:52355605..52360278,4	MCF-7	breast:
8	chr10:52356810..52366659-chr10:52378806..52385975,25	MCF-7	breast:
9	chr10:52359176..52361319-chr10:52370214..52372763,2	K562	blood:
10	chr10:52359176..52362800-chr10:52370214..52372763,3	K562	blood:
11	chr10:52355521..52357816-chr10:52359729..52362613,2	MCF-7	breast:
12	chr10:52337504..52339571-chr10:52355930..52358209,2	K562	blood:
13	chr10:52355521..52357816-chr10:52359729..52362613,2	MCF-7	breast:
14	chr10:52359953..52362709-chr10:52369369..52373300,4	MCF-7	breast:
15	chr10:52355890..52357907-chr10:52372209..52373860,2	K562	blood:
16	chr10:52358660..52367648-chr10:52378481..52386533,25	MCF-7	breast:
17	chr10:52355970..52358426-chr10:52377071..52379971,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000198964	chromatin interactions
ENSG00000226200	chromatin interactions

Extended variants
information (count: 114 )
Associated
traits (count: 59 )

Variant overlapped rSNPs/rCNVs (count:114 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543440437	chr10:52356944-52356945	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs565667214	chr10:52356949-52356950	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs148037355	chr10:52356975-52356976	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs529430439	chr10:52356985-52356986	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs542754879	chr10:52357046-52357047	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs141757507	chr10:52357058-52357059	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs528652608	chr10:52357095-52357096	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs74350596	chr10:52357100-52357101	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs35856795	chr10:52357137-52357138	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs7089882	chr10:52357156-52357157	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs150166661	chr10:52357159-52357160	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs138665018	chr10:52357217-52357218	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs57025029	chr10:52357312-52357313	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs186809356	chr10:52357371-52357372	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs555129351	chr10:52357378-52357379	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs142688249	chr10:52357494-52357495	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs574792175	chr10:52357495-52357496	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs191271025	chr10:52357498-52357499	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs147356058	chr10:52357499-52357500	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs60613759	chr10:52357512-52357513	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs183757039	chr10:52357538-52357539	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs34095212	chr10:52357589-52357590	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs556301868	chr10:52357604-52357605	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs573908056	chr10:52357699-52357700	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs189647244	chr10:52357703-52357704	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs559552382	chr10:52357704-52357705	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs7908093	chr10:52357738-52357739	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs544250440	chr10:52357772-52357773	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs111423387	chr10:52357780-52357781	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs538921194	chr10:52357789-52357790	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs545644097	chr10:52357792-52357793	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs79066283	chr10:52357799-52357800	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs193063865	chr10:52357825-52357826	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs185410392	chr10:52357842-52357843	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs144764138	chr10:52357843-52357844	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs148557491	chr10:52357848-52357849	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs541559840	chr10:52357885-52357886	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs11006259	chr10:52357891-52357892	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs574844056	chr10:52357904-52357905	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs531496426	chr10:52357911-52357912	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs74329610	chr10:52358083-52358084	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs563452382	chr10:52358086-52358087	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs151110385	chr10:52358147-52358148	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs140190284	chr10:52358209-52358210	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs189841479	chr10:52358224-52358225	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs72803738	chr10:52358263-52358264	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs4935734	chr10:52358285-52358286	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs573991091	chr10:52358293-52358294	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs536221554	chr10:52358298-52358299	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs143559111	chr10:52358331-52358332	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:59)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Obesity	21956041	CNVD
Renal cell carcinoma	18765545	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Breast cancer	21785460	CNVD
Intellectual disability	21948486	CNVD
Intellectual disability	22045946	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Metanephric adenoma	20802469	CNVD
Autism	20841430	CNVD
Cancer	20164920	CNVD

Chromatin state (count:169 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:52336800-52363000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr10:52338000-52363800	Weak transcription	Fetal Kidney	kidney
3	chr10:52338000-52367000	Weak transcription	Aorta	Aorta
4	chr10:52340400-52360200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr10:52341200-52373000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr10:52341400-52360200	Weak transcription	GM12878-XiMat	blood
7	chr10:52341800-52362000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr10:52342800-52360200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr10:52343400-52360600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr10:52343600-52362200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr10:52343800-52360000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr10:52346400-52358600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr10:52346600-52363400	Weak transcription	Adipose Nuclei	Adipose
14	chr10:52346600-52363800	Weak transcription	Spleen	Spleen
15	chr10:52346800-52360600	Weak transcription	HUVEC	blood vessel
16	chr10:52347000-52359600	Weak transcription	A549	lung
17	chr10:52348000-52363400	Weak transcription	Primary hematopoietic stem cells	blood
18	chr10:52348200-52358400	Weak transcription	HepG2	liver
19	chr10:52348200-52360000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr10:52348400-52363000	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr10:52349000-52363200	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr10:52349200-52360400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr10:52349200-52363200	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr10:52349400-52358600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr10:52349400-52363000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr10:52349400-52363000	Weak transcription	Lung	lung
27	chr10:52349600-52358400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr10:52349600-52359200	Weak transcription	Placenta	Placenta
29	chr10:52349600-52360000	Weak transcription	Fetal Intestine Large	intestine
30	chr10:52349600-52360200	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr10:52349600-52360200	Weak transcription	Fetal Intestine Small	intestine
32	chr10:52349600-52360200	Weak transcription	Fetal Muscle Leg	muscle
33	chr10:52349600-52360200	Weak transcription	Fetal Thymus	thymus
34	chr10:52349600-52360600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr10:52349600-52360600	Weak transcription	Thymus	Thymus
36	chr10:52349600-52361800	Weak transcription	Esophagus	oesophagus
37	chr10:52349600-52363600	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr10:52349600-52364000	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr10:52349600-52364800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr10:52349800-52362600	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr10:52349800-52362600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr10:52349800-52362800	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr10:52349800-52363000	Weak transcription	Duodenum Mucosa	Duodenum
44	chr10:52349800-52363800	Weak transcription	Primary B cells from cord blood	blood
45	chr10:52350000-52360000	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr10:52350000-52360000	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr10:52350000-52360400	Weak transcription	Primary B cells from peripheral blood	blood
48	chr10:52350000-52360600	Weak transcription	Primary T cells from cord blood	blood
49	chr10:52351000-52359400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
50	chr10:52352400-52358000	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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