Variant report

Variant	nsv518343
Chromosome Location	chr7:12164100-12170496
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:11467204..11469366-chr7:12166192..12168544,2	K562	blood:
2	chr7:12166840..12168760-chr7:12170445..12172889,2	K562	blood:
3	chr7:12166840..12168760-chr7:12170445..12172889,2	K562	blood:

Extended variants
information (count: 254 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:254 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1003433	chr7:12164100-12164101	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs556642965	chr7:12164103-12164104	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs573621217	chr7:12164114-12164115	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs542891207	chr7:12164142-12164143	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs559654856	chr7:12164144-12164145	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528776606	chr7:12164168-12164169	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs76945104	chr7:12164171-12164172	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs73055688	chr7:12164176-12164177	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs570748940	chr7:12164183-12164184	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs1003434	chr7:12164223-12164224	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs567552314	chr7:12164228-12164229	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs79872367	chr7:12164244-12164245	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs546583585	chr7:12164251-12164252	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs549280928	chr7:12164272-12164273	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs116858977	chr7:12164284-12164285	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534938018	chr7:12164319-12164320	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs140911599	chr7:12164329-12164330	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs76619762	chr7:12164330-12164331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs192037895	chr7:12164340-12164341	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs35560009	chr7:12164359-12164360	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs74856843	chr7:12164392-12164393	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532443254	chr7:12164443-12164444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs114756670	chr7:12164469-12164470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs144768432	chr7:12164473-12164474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs78827891	chr7:12164494-12164495	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs552572853	chr7:12164507-12164508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs79202376	chr7:12164508-12164509	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs545307948	chr7:12164510-12164511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs538328173	chr7:12164535-12164536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs71536872	chr7:12164610-12164611	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs575845198	chr7:12164631-12164632	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544354963	chr7:12164649-12164650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs10488203	chr7:12164658-12164659	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs147897361	chr7:12164663-12164664	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs10488202	chr7:12164747-12164748	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs10488201	chr7:12164759-12164760	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs10488200	chr7:12164781-12164782	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs76887466	chr7:12164792-12164793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183605600	chr7:12164800-12164801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs140462775	chr7:12164819-12164820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs76515523	chr7:12164876-12164877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs78746524	chr7:12164958-12164959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs367563960	chr7:12164962-12164963	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs150406092	chr7:12164992-12164993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs4719293	chr7:12164993-12164994	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs552513387	chr7:12165020-12165021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs572547032	chr7:12165037-12165038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs143498920	chr7:12165038-12165039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs543921813	chr7:12165042-12165043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs559233710	chr7:12165065-12165066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Ovarian clear cell carcinoma	19293255	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	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
Autism	22495309	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Glioblastoma multiforme	17002787	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Multiple myeloma	17550852	CNVD
T-cell lymphomas	22341440	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12163400-12170200	Weak transcription	Hela-S3	cervix
2	chr7:12163600-12164400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr7:12164400-12166800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr7:12166800-12167200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr7:12166800-12167200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr7:12167000-12167200	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr7:12167000-12167400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr7:12167000-12167400	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr7:12167000-12167600	Enhancers	A549	lung
10	chr7:12167200-12170800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr7:12167400-12170400	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr7:12167600-12170600	Weak transcription	A549	lung
13	chr7:12169600-12171400	Enhancers	Fetal Intestine Large	intestine
14	chr7:12169800-12170000	Enhancers	Fetal Intestine Small	intestine
15	chr7:12169800-12170000	Enhancers	Placenta	Placenta
16	chr7:12169800-12171200	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr7:12170200-12170800	Enhancers	Hela-S3	cervix
18	chr7:12170400-12171000	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr7:12170400-12171200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr7:12170400-12171200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr7:12170400-12171200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr7:12170400-12171400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
23	chr7:12170400-12171400	Enhancers	Primary T helper cells PMA-I stimulated	--

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