Variant report

Variant	nsv515498
Chromosome Location	chr10:55371601-55454152
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:55405153..55407581-chr5:63345532..63348450,2	MCF-7	breast:

Extended variants
information (count: 2230 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:2230 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10825073	chr10:55371601-55371602	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs542126145	chr10:55371651-55371652	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs79827538	chr10:55371706-55371707	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs574881593	chr10:55371717-55371718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs34326845	chr10:55371718-55371719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs6481026	chr10:55371788-55371789	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs562847644	chr10:55371850-55371851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs56282513	chr10:55371902-55371903	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs11003708	chr10:55371907-55371908	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs115768918	chr10:55371916-55371917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs531821766	chr10:55371955-55371956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs186870737	chr10:55371979-55371980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs568462987	chr10:55371995-55371996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs534229184	chr10:55372077-55372078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs547334973	chr10:55372082-55372083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs60992512	chr10:55372109-55372110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs539498355	chr10:55372110-55372111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs556016988	chr10:55372113-55372114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs531322854	chr10:55372152-55372153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs375733882	chr10:55372227-55372228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs189863183	chr10:55372228-55372229	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs60627659	chr10:55372249-55372250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181637566	chr10:55372266-55372267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540985070	chr10:55372281-55372282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs554110977	chr10:55372293-55372294	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs7896738	chr10:55372307-55372308	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs60100445	chr10:55372314-55372315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs546263144	chr10:55372342-55372343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562684447	chr10:55372343-55372344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs373809593	chr10:55372410-55372411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs35522817	chr10:55372411-55372412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs371566629	chr10:55372428-55372429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186294228	chr10:55372445-55372446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs1994577	chr10:55372480-55372481	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs561959923	chr10:55372529-55372530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs527950714	chr10:55372533-55372534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs72791385	chr10:55372549-55372550	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs570729969	chr10:55372574-55372575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs191225397	chr10:55372590-55372591	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs11812760	chr10:55372613-55372614	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs10825074	chr10:55372614-55372615	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs373371735	chr10:55372634-55372635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs549842554	chr10:55372643-55372644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs569719055	chr10:55372644-55372645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs535555896	chr10:55372669-55372670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555569264	chr10:55372673-55372674	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs533854482	chr10:55372674-55372675	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs34372313	chr10:55372675-55372676	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs565906433	chr10:55372759-55372760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs182266770	chr10:55372788-55372789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Developmental delay	21948486	CNVD
Intellectual disability	21948486	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
Colorectal cancer	16774939	CNVD
Autism	20858243	CNVD
Melanoma	17363583	CNVD
Breast cancer	22522925	CNVD
Usher type I cohort	17277737	CNVD
Usher type I cohort	21436283	CNVD
Leukemia	21357790	CNVD
Medulloblastoma	22832581	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:55367800-55376600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr10:55368000-55373200	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr10:55368000-55379000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr10:55368200-55373200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr10:55371200-55371800	Enhancers	H9 Cell Line	embryonic stem cell
6	chr10:55371600-55381800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr10:55373200-55373600	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr10:55373200-55374000	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr10:55375400-55375600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr10:55379000-55379400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
11	chr10:55379200-55379800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr10:55379200-55380200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr10:55379400-55379800	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
14	chr10:55379400-55379800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr10:55379400-55379800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr10:55379400-55379800	Enhancers	NHEK	skin
17	chr10:55379400-55380400	Enhancers	HMEC	breast
18	chr10:55379800-55381600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr10:55379800-55387600	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr10:55390400-55390600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr10:55390600-55394000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr10:55394000-55394400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr10:55394200-55394400	Enhancers	Fetal Kidney	kidney
24	chr10:55394200-55395200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr10:55394400-55395200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr10:55395000-55395200	Enhancers	Fetal Kidney	kidney
27	chr10:55397000-55398400	Enhancers	Fetal Lung	lung
28	chr10:55397800-55398400	Enhancers	Primary hematopoietic stem cells	blood
29	chr10:55398400-55403200	Weak transcription	Fetal Lung	lung
30	chr10:55403200-55406200	Enhancers	Fetal Lung	lung
31	chr10:55405200-55407400	Enhancers	Fetal Stomach	stomach
32	chr10:55406200-55406600	Flanking Active TSS	Fetal Lung	lung
33	chr10:55406200-55406600	Enhancers	Stomach Smooth Muscle	stomach
34	chr10:55406400-55407200	Enhancers	Fetal Brain Male	brain
35	chr10:55406600-55409000	Enhancers	Fetal Lung	lung
36	chr10:55407400-55408400	Weak transcription	Fetal Stomach	stomach
37	chr10:55408600-55408800	Enhancers	Fetal Stomach	stomach
38	chr10:55417600-55418400	Enhancers	Fetal Heart	heart
39	chr10:55418400-55424200	Weak transcription	Fetal Heart	heart
40	chr10:55422400-55423000	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr10:55422400-55424400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr10:55422400-55424400	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr10:55423000-55423400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr10:55423400-55426600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr10:55423600-55424200	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr10:55423800-55424200	Enhancers	Fetal Lung	lung
47	chr10:55424000-55424200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr10:55424000-55424400	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr10:55424000-55425000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr10:55424000-55425000	Enhancers	Rectal Mucosa Donor 31	rectum

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