Variant report

Variant	nsv6443
Chromosome Location	chr10:37949704-37995270
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	chr10:37976754..37978580-chr10:37994431..37996961,2	K562	blood:
2	chr10:37976754..37978580-chr10:37994431..37996961,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF33A-7	chr10:37961662-37961840	l_290_chr10:37950621-37961840_testes
2	lnc-ZNF33A-7	chr10:37950622-37950736	l_290_chr10:37950621-37961840_testes

Extended variants
information (count: 702 )
Associated
traits (count: 41 )

Variant overlapped rSNPs/rCNVs (count:702 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543129450	chr10:37950676-37950677	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs563532882	chr10:37950685-37950686	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs72468144	chr10:37950716-37950717	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs72468145	chr10:37950723-37950724	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs10764142	chr10:37961707-37961708	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs551599139	chr10:37961721-37961722	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs571518065	chr10:37961815-37961816	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs12411757	chr10:37961832-37961833	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs192538490	chr10:37964620-37964621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs572405553	chr10:37964625-37964626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs541036173	chr10:37964650-37964651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs144845702	chr10:37964654-37964655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs574967234	chr10:37964659-37964660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs544078970	chr10:37964671-37964672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs563865886	chr10:37964676-37964677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs532714998	chr10:37964692-37964693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs10827815	chr10:37964695-37964696	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs559767992	chr10:37964757-37964758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs561354040	chr10:37964814-37964815	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs547863359	chr10:37964847-37964848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs539466545	chr10:37964863-37964864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs567842048	chr10:37964927-37964928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs559268722	chr10:37964930-37964931	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs184676501	chr10:37964932-37964933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs75224009	chr10:37964951-37964952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs189127369	chr10:37964959-37964960	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs377164560	chr10:37964963-37964964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs535613586	chr10:37964990-37964991	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs76297489	chr10:37964999-37965000	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs116918333	chr10:37965018-37965019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs573018327	chr10:37965046-37965047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs11011323	chr10:37965166-37965167	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs11011324	chr10:37965198-37965199	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs575030150	chr10:37965282-37965283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs192011316	chr10:37965393-37965394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs148583947	chr10:37965406-37965407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs577683051	chr10:37965437-37965438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs184120764	chr10:37965448-37965449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs560031348	chr10:37965503-37965504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs530186118	chr10:37965528-37965529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs548212691	chr10:37965617-37965618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs79061965	chr10:37965620-37965621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs530007161	chr10:37965653-37965654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs530381889	chr10:37965669-37965670	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs550264281	chr10:37965701-37965702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs35087912	chr10:37965712-37965713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs34122947	chr10:37965726-37965727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs74949255	chr10:37965803-37965804	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs34542895	chr10:37965811-37965812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs398054293	chr10:37965813-37965814	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:41)

Disease	PMID	Source
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	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
Oral cancer	21386901	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
T-cell lymphomas	19863542	CNVD
Esophageal cancer	21851588	CNVD
Behavioral abnormalities	21522184	CNVD
Dysmorphic features	21522184	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Bethlem myopathy	20302629	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Glioblastoma multiforme	22286061	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hepatocellular carcinoma	16785998	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Breast cancer	21364760	CNVD
Lung cancer	21569311	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:37964600-37967600	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr10:37968600-37970800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr10:37969200-37970800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr10:37970600-37971200	Enhancers	Stomach Mucosa	stomach
5	chr10:37971800-37977600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
6	chr10:37975200-37976600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr10:37975400-37977200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr10:37975800-37976000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr10:37975800-37976200	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
10	chr10:37977800-37979200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
11	chr10:37989800-37990400	Enhancers	Dnd41	blood
12	chr10:37990000-37991000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr10:37991600-37992400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr10:37991600-37992400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr10:37991600-37992400	Enhancers	HSMMtube	muscle
16	chr10:37991600-37994400	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
17	chr10:37992000-37994000	Enhancers	HSMM	muscle
18	chr10:37992400-37992800	Weak transcription	HSMMtube	muscle
19	chr10:37992800-37994000	Enhancers	HSMMtube	muscle
20	chr10:37993000-37994000	Enhancers	Adipose Nuclei	Adipose
21	chr10:37994000-37996800	Weak transcription	HSMM	muscle
22	chr10:37994000-37996800	Weak transcription	HSMMtube	muscle

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