Variant report

Variant	nsv947977
Chromosome Location	chr10:49951534-49953881
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 69 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575137630	chr10:49951536-49951537	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs542558497	chr10:49951559-49951560	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs560481678	chr10:49951560-49951561	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs572382461	chr10:49951570-49951571	Weak transcription Genic enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546255002	chr10:49951643-49951644	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs534130138	chr10:49951659-49951660	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs564468153	chr10:49951687-49951688	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs112412769	chr10:49951692-49951693	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs373297640	chr10:49951768-49951769	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs561567643	chr10:49951773-49951774	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs369711556	chr10:49951776-49951777	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369297587	chr10:49951786-49951787	Genic enhancers Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs534150347	chr10:49951828-49951829	Genic enhancers Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs529119778	chr10:49951937-49951938	Genic enhancers Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs547324016	chr10:49952018-49952019	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs117417351	chr10:49952088-49952089	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs545952122	chr10:49952180-49952181	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs114307955	chr10:49952191-49952192	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs554242446	chr10:49952198-49952199	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs551450079	chr10:49952245-49952246	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs569607522	chr10:49952269-49952270	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs376724011	chr10:49952316-49952317	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs537142957	chr10:49952340-49952341	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs574158752	chr10:49952351-49952352	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs575098994	chr10:49952368-49952369	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs536139553	chr10:49952370-49952371	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs554532443	chr10:49952371-49952372	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs572401596	chr10:49952436-49952437	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs146304271	chr10:49952504-49952505	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs564510110	chr10:49952571-49952572	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs183029953	chr10:49952604-49952605	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs543527512	chr10:49952670-49952671	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs139478391	chr10:49952676-49952677	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs529084060	chr10:49952758-49952759	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs547288932	chr10:49952797-49952798	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs148597141	chr10:49952846-49952847	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs559431561	chr10:49952851-49952852	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs35894514	chr10:49952860-49952861	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs150066842	chr10:49952862-49952863	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs562394454	chr10:49952909-49952910	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs187523828	chr10:49952967-49952968	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs34215880	chr10:49952980-49952981	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs537107754	chr10:49953045-49953046	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs549131726	chr10:49953100-49953101	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs145421843	chr10:49953132-49953133	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs536102846	chr10:49953208-49953209	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs190077006	chr10:49953242-49953243	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs148792313	chr10:49953256-49953257	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs374502828	chr10:49953310-49953311	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540148706	chr10:49953353-49953354	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Schizophrenia	23813976	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Rett syndrome	21593744	CNVD
Glioblastoma multiforme	22286061	CNVD
Neuroblastoma	21899760	CNVD
Intellectual disability	22045946	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Autism	21948486	CNVD
cleft palate	21948486	CNVD
Encephalopathy	21948486	CNVD
Lung cancer	18438408	CNVD
T-cell primary immunodeficiency	21948486	CNVD
Autism	22543975	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
skeletal anomalies	21948486	CNVD
speech delay	21948486	CNVD
Breast cancer	22522925	CNVD
Colorectal cancer	16272173	CNVD

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49923400-49960200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
2	chr10:49925200-49951600	Strong transcription	Primary B cells from peripheral blood	blood
3	chr10:49926400-49953600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr10:49927800-49953400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr10:49928000-49951600	Strong transcription	GM12878-XiMat	blood
6	chr10:49928400-49953800	Strong transcription	Primary hematopoietic stem cells	blood
7	chr10:49931000-49952800	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr10:49931000-49956800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr10:49934400-49955800	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr10:49934600-49955800	Strong transcription	Primary B cells from cord blood	blood
11	chr10:49939600-49956200	Weak transcription	Adipose Nuclei	Adipose
12	chr10:49948600-49957200	Weak transcription	Esophagus	oesophagus
13	chr10:49950400-49952000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr10:49950400-49952000	Strong transcription	Spleen	Spleen
15	chr10:49951400-49951600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr10:49951400-49951800	Weak transcription	Lung	lung
17	chr10:49951400-49952000	Genic enhancers	Primary monocytes fromperipheralblood	blood
18	chr10:49951400-49952000	Genic enhancers	Primary neutrophils fromperipheralblood	blood
19	chr10:49951600-49952000	Genic enhancers	Primary B cells from peripheral blood	blood
20	chr10:49951600-49953000	Genic enhancers	GM12878-XiMat	blood
21	chr10:49951800-49952000	Enhancers	Lung	lung
22	chr10:49952000-49953600	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr10:49952000-49953600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr10:49952000-49953800	Weak transcription	Lung	lung
25	chr10:49952000-49955800	Strong transcription	Primary B cells from peripheral blood	blood
26	chr10:49952000-49956400	Weak transcription	Spleen	Spleen
27	chr10:49952000-49960800	Strong transcription	Primary neutrophils fromperipheralblood	blood
28	chr10:49952800-49955200	Weak transcription	Colonic Mucosa	Colon
29	chr10:49953000-49954000	Strong transcription	GM12878-XiMat	blood
30	chr10:49953400-49953800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr10:49953400-49960200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr10:49953600-49954000	Enhancers	H1 Cell Line	embryonic stem cell
33	chr10:49953600-49954000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr10:49953600-49954200	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
35	chr10:49953600-49954200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr10:49953600-49954200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr10:49953800-49954200	ZNF genes & repeats	Lung	lung
38	chr10:49953800-49955000	ZNF genes & repeats	Primary hematopoietic stem cells	blood

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