Variant report

Variant	nsv932947
Chromosome Location	chr7:21677388-21678521
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:56 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184181692	chr7:21677404-21677405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs6956824	chr7:21677405-21677406	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs549718241	chr7:21677408-21677409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs116133484	chr7:21677409-21677410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs17144825	chr7:21677467-21677468	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs553398691	chr7:21677468-21677469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs377666936	chr7:21677474-21677475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs73072274	chr7:21677515-21677516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs536025695	chr7:21677527-21677528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs556130945	chr7:21677543-21677544	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs17144828	chr7:21677559-21677560	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs62447795	chr7:21677627-21677628	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs141726874	chr7:21677630-21677631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs368308110	chr7:21677635-21677636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571317311	chr7:21677657-21677658	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs181027144	chr7:21677658-21677659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs545600310	chr7:21677666-21677667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs17747067	chr7:21677772-21677773	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs542825679	chr7:21677799-21677800	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs369710383	chr7:21677800-21677801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs73682658	chr7:21677868-21677869	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs186012262	chr7:21677869-21677870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs189071081	chr7:21677901-21677902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs550421798	chr7:21677921-21677922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs568374346	chr7:21677924-21677925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs570528816	chr7:21677940-21677941	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs182460841	chr7:21677953-21677954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs186105265	chr7:21677965-21677966	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs17144830	chr7:21677973-21677974	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs79254883	chr7:21677995-21677996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs555998245	chr7:21678051-21678052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs569810642	chr7:21678069-21678070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs17144832	chr7:21678093-21678094	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs373828155	chr7:21678101-21678102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs17747163	chr7:21678107-21678108	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs565428728	chr7:21678115-21678116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs558459401	chr7:21678225-21678226	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs576788801	chr7:21678237-21678238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs141242203	chr7:21678251-21678252	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs552831392	chr7:21678303-21678304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs371483816	chr7:21678309-21678310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs139559807	chr7:21678310-21678311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs572894066	chr7:21678311-21678312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs56257528	chr7:21678312-21678313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs112333532	chr7:21678313-21678314	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs60744395	chr7:21678346-21678347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs398003948	chr7:21678350-21678351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs150858369	chr7:21678370-21678371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs561558036	chr7:21678374-21678375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs530586779	chr7:21678378-21678379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
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
Abnormal phenotypes	18644119	CNVD
Non-syndromic sensorineural hearing loss	22570644	CNVD
Cancer	21183584	CNVD
abnormal development	18461090	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	21785460	CNVD
Lung cancer	16773561	CNVD
Schizophrenia	19546859	CNVD
Pancreatic cancer	17952125	CNVD
Colorectal cancer	21645411	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Tetralogy of Fallot	22912587	CNVD

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:21672000-21683600	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr7:21674200-21681400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:21677800-21680400	Enhancers	Liver	Liver

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