Variant report

Variant	nsv967507
Chromosome Location	chr7:112234655-112243192
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	chr7:112234356..112236045-chr7:112509200..112510734,2	K562	blood:

Extended variants
information (count: 99 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:99 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs180724538	chr7:112234686-112234687	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs559986715	chr7:112234700-112234701	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs369197790	chr7:112234873-112234874	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs375833180	chr7:112234934-112234935	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs72420969	chr7:112234937-112234938	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs572047967	chr7:112234948-112234949	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs545466022	chr7:112234950-112234951	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs564434141	chr7:112234952-112234953	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs377011414	chr7:112234954-112234955	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs71727428	chr7:112234955-112234956	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs7787473	chr7:112234982-112234983	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs141434642	chr7:112234997-112234998	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs367982357	chr7:112234998-112234999	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs7456426	chr7:112235003-112235004	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs7456427	chr7:112235009-112235010	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs149217821	chr7:112235016-112235017	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs1476478	chr7:112235017-112235018	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs549581661	chr7:112235019-112235020	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs12539463	chr7:112235027-112235028	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs2188547	chr7:112235033-112235034	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs570900992	chr7:112235075-112235076	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs375586469	chr7:112235093-112235094	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs547919370	chr7:112235102-112235103	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs566034609	chr7:112235106-112235107	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs17159805	chr7:112235141-112235142	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs185602597	chr7:112235150-112235151	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs113389925	chr7:112235157-112235158	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs570376875	chr7:112235180-112235181	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs2188548	chr7:112235267-112235268	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs191332265	chr7:112235280-112235281	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs570027581	chr7:112235298-112235299	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs567904579	chr7:112235305-112235306	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs10263915	chr7:112235309-112235310	Weak transcription Enhancers Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs556516594	chr7:112235317-112235318	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs535518473	chr7:112235329-112235330	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs576296705	chr7:112235332-112235333	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs553866347	chr7:112235351-112235352	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs572024341	chr7:112235355-112235356	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs545806304	chr7:112235385-112235386	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs557297675	chr7:112235399-112235400	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs145947345	chr7:112235461-112235462	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs543268974	chr7:112235487-112235488	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs561648087	chr7:112235522-112235523	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs555348124	chr7:112235568-112235569	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs529096523	chr7:112235581-112235582	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs115277370	chr7:112235599-112235600	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs183625411	chr7:112235608-112235609	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs535770508	chr7:112235683-112235684	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs146418256	chr7:112235687-112235688	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs140171954	chr7:112235749-112235750	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Myelofibrosis	22110671	CNVD
Squamous cell cancer	20885788	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16397240	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Autism	19401682	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112230800-112235200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:112233200-112235800	Active TSS	HSMMtube	muscle
3	chr7:112234400-112234800	Enhancers	Brain Germinal Matrix	brain
4	chr7:112234400-112235200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:112234600-112234800	Enhancers	Colon Smooth Muscle	Colon
6	chr7:112234600-112235800	Enhancers	Fetal Stomach	stomach
7	chr7:112234800-112235400	Weak transcription	Colon Smooth Muscle	Colon
8	chr7:112235000-112236200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr7:112235400-112235600	Enhancers	Duodenum Smooth Muscle	Duodenum
10	chr7:112235400-112235800	Enhancers	Rectal Smooth Muscle	rectum
11	chr7:112235400-112237400	Enhancers	Colon Smooth Muscle	Colon
12	chr7:112235600-112236200	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr7:112235800-112236200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr7:112235800-112236800	Weak transcription	Fetal Stomach	stomach
15	chr7:112235800-112237000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr7:112236000-112237000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr7:112236000-112237000	Enhancers	Muscle Satellite Cultured Cells	--
18	chr7:112236200-112236600	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr7:112236200-112236800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr7:112236200-112237400	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr7:112236200-112237400	Enhancers	Rectal Smooth Muscle	rectum
22	chr7:112236400-112236600	Enhancers	HSMMtube	muscle
23	chr7:112237000-112237200	Enhancers	Fetal Stomach	stomach

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