Variant report

Variant	nsv970809
Chromosome Location	chr7:27501027-27502612
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr7:27502591-27502821	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr7:27502599-27502821	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:27499005..27501080-chr7:27501761..27504235,2	K562	blood:
2	chr7:27499005..27501080-chr7:27501761..27504235,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EVX1-21	chr7:27501385-27502588	NONHSAT119738

Variant related genes	Relation type
PSMC1P2	TF binding region
EIF4HP1	TF binding region

Extended variants
information (count: 55 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:55 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10951167	chr7:27501042-27501043	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs10251278	chr7:27501074-27501075	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs529874142	chr7:27501081-27501082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs567894008	chr7:27501082-27501083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190220630	chr7:27501111-27501112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs538910221	chr7:27501117-27501118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs533842540	chr7:27501139-27501140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs181471938	chr7:27501178-27501179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs12540632	chr7:27501184-27501185	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs538323601	chr7:27501227-27501228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568486577	chr7:27501262-27501263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187418914	chr7:27501263-27501264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs373210787	chr7:27501279-27501280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs151002206	chr7:27501311-27501312	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs74821673	chr7:27501347-27501348	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs189368368	chr7:27501351-27501352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs55782496	chr7:27501371-27501372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs546566331	chr7:27501402-27501403	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs554284171	chr7:27501542-27501543	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs576948409	chr7:27501629-27501630	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs113433247	chr7:27501650-27501651	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs116950011	chr7:27501693-27501694	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
23	rs11764302	chr7:27501704-27501705	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs140883447	chr7:27501745-27501746	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs113202326	chr7:27501747-27501748	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs527574042	chr7:27501776-27501777	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs552090135	chr7:27501777-27501778	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs540760400	chr7:27501808-27501809	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs570494415	chr7:27501871-27501872	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
30	rs185261441	chr7:27501872-27501873	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs550164544	chr7:27501901-27501902	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs565042226	chr7:27501940-27501941	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs190412671	chr7:27501963-27501964	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs73683797	chr7:27501995-27501996	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs553513203	chr7:27502001-27502002	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs183271610	chr7:27502012-27502013	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs566315850	chr7:27502031-27502032	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs186168749	chr7:27502117-27502118	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs6967510	chr7:27502132-27502133	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs576693130	chr7:27502187-27502188	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
41	rs367842459	chr7:27502188-27502189	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
42	rs111538005	chr7:27502202-27502203	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
43	rs556132304	chr7:27502209-27502210	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
44	rs145911272	chr7:27502221-27502222	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
45	rs575671450	chr7:27502243-27502244	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
46	rs541951561	chr7:27502283-27502284	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
47	rs191916178	chr7:27502285-27502286	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
48	rs374324211	chr7:27502286-27502287	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
49	rs56226124	chr7:27502297-27502298	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs527514800	chr7:27502313-27502314	Enhancers Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
abnormal development	18461090	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Lung adenocarcinoma	17086460	CNVD
Colorectal cancer	19455253	CNVD
Lung cancer	17086460	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27499200-27502400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr7:27499400-27502000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr7:27499400-27502200	Weak transcription	NHLF	lung
4	chr7:27499400-27503200	Weak transcription	Adipose Nuclei	Adipose
5	chr7:27499600-27502200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr7:27499600-27502200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr7:27502200-27502400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr7:27502200-27502400	Enhancers	NHLF	lung
9	chr7:27502200-27502800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr7:27502400-27502600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr7:27502400-27503600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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