Variant report

Variant	nsv1037949
Chromosome Location	chr10:58300798-58354925
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:58338696..58340505-chr10:58341566..58344213,2	K562	blood:
2	chr10:58310627..58311484-chr10:58424524..58425160,3	MCF-7	breast:
3	chr10:58338696..58340505-chr10:58341566..58344213,2	K562	blood:
4	chr10:58346871..58349130-chr10:58356428..58359069,2	MCF-7	breast:
5	chr10:58351002..58353905-chr5:28242920..28245430,2	MCF-7	breast:

Extended variants
information (count: 541 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:541 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557362745	chr10:58310876-58310877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs561107582	chr10:58310893-58310894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs531466465	chr10:58310909-58310910	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs114076755	chr10:58310944-58310945	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs532521134	chr10:58310969-58310970	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs547415621	chr10:58310995-58310996	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs74137696	chr10:58310999-58311000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs191514278	chr10:58311071-58311072	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs548331538	chr10:58311075-58311076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs73275478	chr10:58311111-58311112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs115080926	chr10:58311114-58311115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs569295220	chr10:58311139-58311140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs1907898	chr10:58311190-58311191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs552263295	chr10:58330033-58330034	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs373800503	chr10:58330042-58330043	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs570803861	chr10:58330069-58330070	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs113893685	chr10:58330077-58330078	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs372464745	chr10:58330086-58330087	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs534743851	chr10:58330100-58330101	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs183167537	chr10:58330101-58330102	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs575034443	chr10:58330102-58330103	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs536005467	chr10:58330124-58330125	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs534324506	chr10:58330137-58330138	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs557595710	chr10:58330143-58330144	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs7085098	chr10:58330197-58330198	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs183971050	chr10:58341800-58341801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs577737548	chr10:58341829-58341830	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs190389366	chr10:58341872-58341873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs377506095	chr10:58341914-58341915	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs149963367	chr10:58341915-58341916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs529403159	chr10:58341973-58341974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs375249818	chr10:58341974-58341975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs61856105	chr10:58341998-58341999	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs375549981	chr10:58342040-58342041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs562721173	chr10:58342127-58342128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs529903972	chr10:58342129-58342130	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs533381978	chr10:58342130-58342131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs551655655	chr10:58342131-58342132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs567157673	chr10:58342147-58342148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs528035392	chr10:58342173-58342174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs546592089	chr10:58342200-58342201	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs568036302	chr10:58342216-58342217	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs535515576	chr10:58342267-58342268	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs540190927	chr10:58342268-58342269	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs10825824	chr10:58342282-58342283	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs145122704	chr10:58342346-58342347	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs117111535	chr10:58342349-58342350	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs558035446	chr10:58342358-58342359	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs573099763	chr10:58342368-58342369	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540227576	chr10:58342430-58342431	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
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
Obesity	21956041	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
Metanephric adenoma	20802469	CNVD
Autism	20841430	CNVD
Mental retardation	17124404	CNVD
Epilepsy	20923578	CNVD
Prostate cancer	16573809	CNVD
Schizophrenia	19329560	CNVD
Heart failure	18772530	CNVD
Heart failure	18854381	CNVD
Hyperglycemia	19060297	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Glioblastoma multiforme	22286061	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Usher syndrome	20538994	CNVD
Glioblastoma multiforme	17002787	CNVD
Autism	20858243	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
small cell lung cancer	17426248	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Urothelial carcinoma	21177765	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:58310800-58311200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr10:58330000-58330200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr10:58341800-58344000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr10:58341800-58344000	Enhancers	HMEC	breast
5	chr10:58341800-58344000	Enhancers	NHEK	skin
6	chr10:58341800-58344200	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr10:58342000-58342200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr10:58342200-58343200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr10:58343200-58343600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr10:58343200-58344000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr10:58343200-58345600	Enhancers	Fetal Heart	heart
12	chr10:58343600-58346200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr10:58343800-58344000	Enhancers	Left Ventricle	heart
14	chr10:58343800-58344000	Enhancers	Right Ventricle	heart
15	chr10:58344000-58346000	Weak transcription	HMEC	breast
16	chr10:58344000-58346200	Weak transcription	NHEK	skin
17	chr10:58344200-58345400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr10:58344800-58346000	Enhancers	Right Atrium	heart
19	chr10:58345400-58345600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr10:58345400-58346200	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr10:58345400-58347200	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr10:58345600-58346000	Flanking Active TSS	Fetal Heart	heart
23	chr10:58345600-58346200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr10:58345600-58346400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr10:58345600-58346400	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr10:58345600-58346400	Enhancers	Left Ventricle	heart
27	chr10:58345600-58346400	Enhancers	Right Ventricle	heart
28	chr10:58345600-58346600	Enhancers	H1 Cell Line	embryonic stem cell
29	chr10:58345600-58346600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr10:58345600-58346600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr10:58345600-58347200	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr10:58345800-58346400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr10:58345800-58346400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr10:58345800-58346400	Enhancers	Esophagus	oesophagus
35	chr10:58345800-58346400	Enhancers	Fetal Brain Female	brain
36	chr10:58345800-58346600	Enhancers	Fetal Brain Male	brain
37	chr10:58345800-58346800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr10:58346000-58346200	Enhancers	Lung	lung
39	chr10:58346000-58346600	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr10:58346000-58346800	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr10:58346000-58346800	Enhancers	Fetal Heart	heart
42	chr10:58346000-58346800	Enhancers	HMEC	breast
43	chr10:58346000-58347000	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr10:58346000-58347400	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr10:58346200-58346400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr10:58346200-58346600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr10:58346200-58346600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
48	chr10:58346200-58346600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr10:58346200-58346600	Enhancers	Fetal Stomach	stomach
50	chr10:58346200-58346600	Active TSS	NHEK	skin

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