Variant report

Variant	nsv467214
Chromosome Location	chr10:55881720-55948714
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	10:55597627-55602376..10:55882057-55892580	GM12878	blood:
2	chr10:55908092..55910671-chr10:55913950..55916622,2	MCF-7	breast:
3	10:55597627-55602376..10:55892580-55896204	H1-hESC	embryonic stem cell:	embryo
4	chr10:55908092..55910671-chr10:55913950..55916622,2	MCF-7	breast:

Extended variants
information (count: 983 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:983 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7084671	chr10:55881720-55881721	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs554352268	chr10:55881758-55881759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs369661354	chr10:55881760-55881761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs199773906	chr10:55881761-55881762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs11510900	chr10:55881762-55881763	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs11497831	chr10:55881774-55881775	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs574672665	chr10:55881792-55881793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs57135050	chr10:55881793-55881794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs148137731	chr10:55881794-55881795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs142374610	chr10:55881801-55881802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs371027064	chr10:55881804-55881805	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs534482758	chr10:55881837-55881838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7100992	chr10:55881882-55881883	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs559802723	chr10:55881898-55881899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs532084715	chr10:55881906-55881907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs11498093	chr10:55881918-55881919	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs562364958	chr10:55881934-55881935	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs11498094	chr10:55881952-55881953	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs548170803	chr10:55881968-55881969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs568391062	chr10:55881974-55881975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs577206847	chr10:55881979-55881980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs138871423	chr10:55881984-55881985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs566925790	chr10:55881998-55881999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs149435832	chr10:55882028-55882029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs554416549	chr10:55882049-55882050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs72797041	chr10:55882050-55882051	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs12769459	chr10:55882088-55882089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs12764416	chr10:55882089-55882090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs145874477	chr10:55882123-55882124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs538268516	chr10:55882163-55882164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs554963902	chr10:55882196-55882197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs138468345	chr10:55882218-55882219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs142804099	chr10:55882251-55882252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574429961	chr10:55882272-55882273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs139516972	chr10:55882285-55882286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556591371	chr10:55882341-55882342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs532547593	chr10:55882342-55882343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs576500052	chr10:55882343-55882344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs397709672	chr10:55882351-55882352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs74930788	chr10:55882352-55882353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs534467656	chr10:55882353-55882354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs144951147	chr10:55882361-55882362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs545594366	chr10:55882380-55882381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs73239949	chr10:55882410-55882411	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs181546406	chr10:55882419-55882420	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs146058602	chr10:55882425-55882426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs561924506	chr10:55882428-55882429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs527587587	chr10:55882466-55882467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs148744100	chr10:55882474-55882475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs141446371	chr10:55882521-55882522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:70)

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
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
Cancer	20164919	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:55880800-55884000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr10:55881000-55883800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr10:55883800-55884600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr10:55884000-55884600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr10:55884000-55884800	Enhancers	HMEC	breast
6	chr10:55884000-55885000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr10:55884000-55885800	Enhancers	NHEK	skin
8	chr10:55884600-55885000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr10:55884600-55885400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr10:55885000-55885400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr10:55885400-55886200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr10:55885400-55886200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr10:55889800-55890400	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr10:55890200-55890600	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr10:55890200-55890600	Enhancers	Placenta Amnion	Placenta Amnion
16	chr10:55890600-55891600	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr10:55891600-55891800	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr10:55891600-55892200	Enhancers	Fetal Heart	heart
19	chr10:55892200-55892400	Enhancers	Placenta Amnion	Placenta Amnion
20	chr10:55897200-55898400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
21	chr10:55897400-55898600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
22	chr10:55898600-55899800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
23	chr10:55900200-55900400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr10:55900400-55900800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr10:55919600-55920200	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr10:55920200-55923000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr10:55926000-55926200	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr10:55926200-55926800	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr10:55926200-55932400	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr10:55926800-55929000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr10:55929000-55929400	Active TSS	iPS-15b Cell Line	embryonic stem cell
32	chr10:55929000-55930600	Active TSS	ES-I3 Cell Line	embryonic stem cell
33	chr10:55930600-55932200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr10:55932200-55932600	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr10:55932400-55932600	Enhancers	HUES6 Cell Line	embryonic stem cell

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