Variant report

Variant	esv2761085
Chromosome Location	chr7:12001136-12010002
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 416 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:416 , 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	rs2966625	chr7:12001136-12001137	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs558152935	chr7:12001160-12001161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs147328069	chr7:12001161-12001162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs531932040	chr7:12001164-12001165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs28829942	chr7:12001180-12001181	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs142162354	chr7:12001188-12001189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs527928583	chr7:12001226-12001227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs190629092	chr7:12001254-12001255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs146710238	chr7:12001342-12001343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs561818142	chr7:12001351-12001352	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533142136	chr7:12001427-12001428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs578228713	chr7:12001465-12001466	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs549780171	chr7:12001478-12001479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs568784275	chr7:12001484-12001485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs182316367	chr7:12001490-12001491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs10269461	chr7:12001503-12001504	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs568158376	chr7:12001521-12001522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs534019854	chr7:12001547-12001548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs547169329	chr7:12001548-12001549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs553888455	chr7:12001551-12001552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs187793310	chr7:12001596-12001597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs372989544	chr7:12001605-12001606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs545785363	chr7:12001606-12001607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533073587	chr7:12001608-12001609	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs556196217	chr7:12001640-12001641	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs370235254	chr7:12001682-12001683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576632746	chr7:12001690-12001691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192577513	chr7:12001783-12001784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs7798599	chr7:12001794-12001795	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs182989724	chr7:12001809-12001810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs10254552	chr7:12001830-12001831	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs76724314	chr7:12001869-12001870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs10224879	chr7:12001884-12001885	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs147867579	chr7:12001902-12001903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs533274248	chr7:12001922-12001923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs549718429	chr7:12001967-12001968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs569959771	chr7:12001985-12001986	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529335640	chr7:12002006-12002007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs75073874	chr7:12002015-12002016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs568376305	chr7:12002039-12002040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs533938894	chr7:12002043-12002044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs554030056	chr7:12002198-12002199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs570513961	chr7:12002202-12002203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs549253275	chr7:12002211-12002212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539546362	chr7:12002251-12002252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs386710364	chr7:12002259-12002260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs187618208	chr7:12002264-12002265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs535258222	chr7:12002270-12002271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs140277307	chr7:12002321-12002322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs2908748	chr7:12002341-12002342	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
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

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11997400-12009400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr7:12008600-12009800	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr7:12009000-12009800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr7:12009200-12010000	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr7:12009200-12010200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr7:12009400-12009800	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr7:12009400-12010200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:12009600-12010400	Enhancers	Rectal Mucosa Donor 31	rectum

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