Variant report

Variant	nsv947913
Chromosome Location	chr10:46213859-46216764
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 161 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:161 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566994211	chr10:46213869-46213870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs564190122	chr10:46213878-46213879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs552685901	chr10:46213889-46213890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs577752605	chr10:46213891-46213892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs397833219	chr10:46213908-46213909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs4042570	chr10:46213921-46213922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs191182492	chr10:46213970-46213971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs575507544	chr10:46214003-46214004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs17159087	chr10:46214016-46214017	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs149366758	chr10:46214037-46214038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs574115495	chr10:46214038-46214039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs541524792	chr10:46214049-46214050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs397839792	chr10:46214052-46214053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs559842308	chr10:46214082-46214083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs533316568	chr10:46214187-46214188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs397833405	chr10:46214202-46214203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs551960955	chr10:46214256-46214257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs183099067	chr10:46214257-46214258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs188427955	chr10:46214274-46214275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs549295700	chr10:46214302-46214303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs397833404	chr10:46214313-46214314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191758009	chr10:46214314-46214315	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs534356803	chr10:46214349-46214350	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs17835688	chr10:46214364-46214365	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs183526259	chr10:46214372-46214373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs538417698	chr10:46214420-46214421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs557137446	chr10:46214423-46214424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs575423588	chr10:46214430-46214431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs146334285	chr10:46214438-46214439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs61265897	chr10:46214439-46214440	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs531347219	chr10:46214451-46214452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551865650	chr10:46214464-46214465	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs397834747	chr10:46214471-46214472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187868719	chr10:46214504-46214505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs541438441	chr10:46214506-46214507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs559546702	chr10:46214514-46214515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs191612776	chr10:46214526-46214527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs183787203	chr10:46214563-46214564	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs563883836	chr10:46214574-46214575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs144210692	chr10:46214622-46214623	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
41	rs77821754	chr10:46214642-46214643	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs561293234	chr10:46214648-46214649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528032078	chr10:46214653-46214654	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs546587900	chr10:46214656-46214657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571222975	chr10:46214660-46214661	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs532257988	chr10:46214725-46214726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs550435030	chr10:46214730-46214731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs11239594	chr10:46214731-46214732	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
49	rs113623171	chr10:46214735-46214736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs3964807	chr10:46214751-46214752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Lung cancer	18438408	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
Breast cancer	21364760	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
Breast cancer	21785460	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Glioblastoma multiforme	21138945	CNVD
Autism	19287141	CNVD
Intellectual disability	21948486	CNVD
Glioblastoma multiforme	21525872	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	17431168	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	23813976	CNVD
early-passage human iPS cells	21368824	CNVD
Acute myeloid leukemia	19651601	CNVD
Breast cancer	20409316	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
Schizophrenia	20967226	CNVD
Cognitive impairment	21505072	CNVD

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:46199800-46221600	Weak transcription	Primary T cells from cord blood	blood
2	chr10:46201400-46221000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr10:46206400-46221000	Weak transcription	Liver	Liver
4	chr10:46206400-46221600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr10:46212400-46214000	Enhancers	HepG2	liver
6	chr10:46213000-46221000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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