Variant report

Variant	nsv520205
Chromosome Location	chr7:15964238-15975614
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:15965024..15967511-chr7:15972188..15973776,2	K562	blood:
2	chr7:15965024..15967511-chr7:15972188..15973776,2	K562	blood:
3	chr7:15955267..15957693-chr7:15974761..15976318,2	MCF-7	breast:

Extended variants
information (count: 241 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:241 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12699758	chr7:15964238-15964239	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs530096887	chr7:15964239-15964240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs556335160	chr7:15964278-15964279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs112925089	chr7:15964279-15964280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs148387069	chr7:15964338-15964339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs74318388	chr7:15964339-15964340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552819923	chr7:15964351-15964352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541767559	chr7:15964365-15964366	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs571030880	chr7:15964366-15964367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs112268458	chr7:15964406-15964407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs542129669	chr7:15964408-15964409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs547301344	chr7:15964422-15964423	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs544519373	chr7:15964460-15964461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs141573883	chr7:15964508-15964509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs561491579	chr7:15964537-15964538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs527322574	chr7:15964559-15964560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs536244921	chr7:15964572-15964573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs554224379	chr7:15964670-15964671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs73680124	chr7:15964718-15964719	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs1072964	chr7:15964744-15964745	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs1072965	chr7:15964754-15964755	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs372831382	chr7:15964761-15964762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs533558661	chr7:15964781-15964782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs559525046	chr7:15970406-15970407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs149751358	chr7:15970412-15970413	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183516327	chr7:15970417-15970418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564652200	chr7:15970463-15970464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs187642351	chr7:15970493-15970494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs147858043	chr7:15970494-15970495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs117261871	chr7:15970499-15970500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs527673898	chr7:15970500-15970501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs551673463	chr7:15970518-15970519	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs139751991	chr7:15970529-15970530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs6962520	chr7:15970542-15970543	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs10950589	chr7:15970549-15970550	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs553999769	chr7:15970569-15970570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs569295438	chr7:15970622-15970623	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs550795805	chr7:15970639-15970640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs536677165	chr7:15970648-15970649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs145387763	chr7:15970650-15970651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs6962565	chr7:15970659-15970660	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs534775338	chr7:15970662-15970663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12670083	chr7:15970667-15970668	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs574620616	chr7:15970683-15970684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs111483073	chr7:15970684-15970685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542332033	chr7:15970710-15970711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs557522476	chr7:15970773-15970774	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs75993266	chr7:15970777-15970778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs546239423	chr7:15970810-15970811	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs564765117	chr7:15970815-15970816	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Melanoma	18172304	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
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
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Pleomorphic liposarcoma	18784837	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
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Rubinstein-Taybi syndrome	22470819	CNVD
Alzheimer''s disease	22166940	CNVD
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Bladder cancer	21909424	CNVD
Cancer	21183584	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:15961200-15964600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr7:15964600-15964800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr7:15970400-15973600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr7:15970800-15972200	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr7:15971200-15971600	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr7:15971200-15971800	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr7:15971200-15972600	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr7:15971400-15973200	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr7:15971600-15971800	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr7:15971800-15972000	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr7:15971800-15972400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr7:15972000-15972200	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr7:15972200-15972400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr7:15972200-15972400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr7:15972200-15972400	Enhancers	Fetal Lung	lung
16	chr7:15972200-15972800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr7:15972400-15972800	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr7:15972400-15973000	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr7:15972400-15973200	Weak transcription	Fetal Lung	lung
20	chr7:15972400-15973600	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr7:15972800-15973200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
22	chr7:15973200-15973600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr7:15973200-15973800	Enhancers	Fetal Lung	lung
24	chr7:15973600-15973800	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr7:15973600-15973800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr7:15973600-15973800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
27	chr7:15973600-15974000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr7:15973600-15979600	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr7:15973800-15975400	Weak transcription	Fetal Lung	lung
30	chr7:15973800-15977800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr7:15974000-15977400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr7:15975400-15975600	Enhancers	Colon Smooth Muscle	Colon
33	chr7:15975400-15976600	Enhancers	Fetal Lung	lung
34	chr7:15975600-15976800	Weak transcription	Colon Smooth Muscle	Colon
35	chr7:15975600-15978200	Enhancers	Rectal Smooth Muscle	rectum

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