Variant report

Variant	nsv823984
Chromosome Location	chr7:3152603-3153164
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	chr7:3149067..3151848-chr7:3153141..3155558,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC091801.1.1-8	chr7:3153155-3153431	ucscGeneNc_uc003smw_1

Extended variants
information (count: 31 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:31 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs557914076	chr7:3152623-3152624	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs570481426	chr7:3152674-3152675	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs539695064	chr7:3152721-3152722	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs4719801	chr7:3152750-3152751	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs4719802	chr7:3152757-3152758	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs535274402	chr7:3152777-3152778	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs113097948	chr7:3152789-3152790	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs199729371	chr7:3152805-3152806	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs63488761	chr7:3152807-3152808	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs574807444	chr7:3152808-3152809	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs537575672	chr7:3152810-3152811	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs557027293	chr7:3152844-3152845	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs576837028	chr7:3152867-3152868	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs376787168	chr7:3152881-3152882	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs4719803	chr7:3152884-3152885	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs559617445	chr7:3152890-3152891	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs117981650	chr7:3152895-3152896	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs542040693	chr7:3152915-3152916	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs562323542	chr7:3152921-3152922	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs4722435	chr7:3152962-3152963	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs550651827	chr7:3152995-3152996	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs564027479	chr7:3153032-3153033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs533766087	chr7:3153045-3153046	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs563685192	chr7:3153062-3153063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs558711945	chr7:3153087-3153088	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs145804640	chr7:3153108-3153109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs546662820	chr7:3153111-3153112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs566758807	chr7:3153122-3153123	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs75123187	chr7:3153123-3153124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs548879768	chr7:3153127-3153128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs537909194	chr7:3153140-3153141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

Disease	PMID	Source
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Chordoma	21602918	CNVD
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
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
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Developmental delay	21147756	CNVD
Prostate cancer	18632612	CNVD
Urothelial carcinoma	21177765	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Nasopharyngeal cancer	20548289	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
Spondylocostal dysostosis	21085971	CNVD
Mental retardation	17901693	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	22286061	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3142000-3156200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr7:3150400-3153200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr7:3150600-3153000	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr7:3150800-3153000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr7:3151000-3153000	Enhancers	Primary hematopoietic stem cells	blood
6	chr7:3151000-3153200	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr7:3151000-3153200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr7:3151400-3153000	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr7:3151400-3153200	Enhancers	Primary T helper naive cells from peripheral blood	blood
10	chr7:3151400-3153400	Enhancers	Primary T cells fromperipheralblood	blood
11	chr7:3151600-3156800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr7:3151800-3152800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr7:3152000-3152800	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr7:3152000-3152800	Enhancers	Primary T cells from cord blood	blood
15	chr7:3152000-3153000	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr7:3152200-3152800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr7:3152200-3152800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
18	chr7:3152200-3152800	Enhancers	Fetal Thymus	thymus
19	chr7:3152200-3153000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr7:3152400-3152800	Enhancers	Primary B cells from peripheral blood	blood
21	chr7:3152400-3152800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr7:3152600-3152800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr7:3152600-3152800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr7:3152800-3153000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
25	chr7:3152800-3153400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr7:3152800-3156400	Weak transcription	Fetal Thymus	thymus
27	chr7:3152800-3156800	Weak transcription	Primary T cells from cord blood	blood
28	chr7:3152800-3156800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr7:3153000-3153400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr7:3153000-3154400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr7:3153000-3154600	Weak transcription	Primary hematopoietic stem cells	blood
32	chr7:3153000-3154800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr7:3153000-3155200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr7:3153000-3155600	Weak transcription	Primary T helper cells fromperipheralblood	blood

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