Variant report

Variant	nsv606274
Chromosome Location	chr7:13697970-13733647
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	chr7:13726746..13728268-chr7:14029761..14031968,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ARL4A-7	chr7:13710212-13710299	NONHSAT119248

Variant related genes	Relation type
ENSG00000006468	chromatin interactions

Extended variants
information (count: 431 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:431 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10243935	chr7:13697970-13697971	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs563774923	chr7:13697986-13697987	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs10243734	chr7:13697988-13697989	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs375223301	chr7:13697990-13697991	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs532988772	chr7:13698076-13698077	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs549802267	chr7:13698077-13698078	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs569972685	chr7:13698093-13698094	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs559958185	chr7:13698120-13698121	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs112618132	chr7:13698125-13698126	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs560246786	chr7:13698128-13698129	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs181714704	chr7:13698140-13698141	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs386710534	chr7:13698173-13698174	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs73058156	chr7:13698174-13698175	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs538889371	chr7:13710233-13710234	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs533212186	chr7:13710238-13710239	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs113805768	chr7:13710271-13710272	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs192260870	chr7:13710288-13710289	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs141382483	chr7:13712628-13712629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs150812649	chr7:13712650-13712651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs545197231	chr7:13712651-13712652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs191418620	chr7:13712689-13712690	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559984736	chr7:13712692-13712693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs183670770	chr7:13712740-13712741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs139885289	chr7:13712752-13712753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs563764207	chr7:13712753-13712754	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs188044543	chr7:13712898-13712899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs116420887	chr7:13712912-13712913	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs560099262	chr7:13712922-13712923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs528749301	chr7:13712932-13712933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs181892504	chr7:13712965-13712966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs565367962	chr7:13712978-13712979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs13229327	chr7:13712983-13712984	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs550299116	chr7:13713014-13713015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs567018161	chr7:13713062-13713063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs62451923	chr7:13713073-13713074	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs574850382	chr7:13713080-13713081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs73268842	chr7:13713095-13713096	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs369985362	chr7:13713097-13713098	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs185531678	chr7:13713099-13713100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs558791943	chr7:13713108-13713109	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs560076657	chr7:13713112-13713113	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs116216034	chr7:13713116-13713117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs576818897	chr7:13713125-13713126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs557495747	chr7:13713152-13713153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs58636522	chr7:13713170-13713171	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs543062114	chr7:13713183-13713184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs559758013	chr7:13713236-13713237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs573170780	chr7:13713277-13713278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs111544563	chr7:13713292-13713293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs546135778	chr7:13713346-13713347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
High-grade prostatic intraepithelial neoplasia	16573809	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
Medulloblastoma	17653508	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
Renal cell carcinoma	18194544	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
Myelofibrosis	22110671	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Cancer	17440070	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:13696200-13698000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr7:13697600-13698200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
3	chr7:13712600-13714800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:13713000-13713200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:13713000-13713200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:13713200-13717600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr7:13713200-13719000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr7:13717200-13718200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
9	chr7:13717600-13718000	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:13720800-13721400	Enhancers	Primary neutrophils fromperipheralblood	blood

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