Variant report

Variant	esv3507605
Chromosome Location	chr7:112329319-112330470
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 44 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182585476	chr7:112329333-112329334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs531578303	chr7:112329335-112329336	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs116624876	chr7:112329345-112329346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs185411944	chr7:112329405-112329406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs60897267	chr7:112329411-112329412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs553767381	chr7:112329511-112329512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs201187182	chr7:112329529-112329530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs567960668	chr7:112329542-112329543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs190615883	chr7:112329562-112329563	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs539426107	chr7:112329580-112329581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs35760958	chr7:112329605-112329606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs397779501	chr7:112329608-112329609	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs558070655	chr7:112329631-112329632	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs34983596	chr7:112329664-112329665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs386716918	chr7:112329673-112329674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs576619902	chr7:112329694-112329695	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs543997620	chr7:112329701-112329702	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs528318956	chr7:112329702-112329703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs555652189	chr7:112329713-112329714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs199689301	chr7:112329742-112329743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs574489469	chr7:112329784-112329785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs112770224	chr7:112329823-112329824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs111226758	chr7:112329824-112329825	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs150972346	chr7:112329833-112329834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs545807986	chr7:112329872-112329873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs187927381	chr7:112329917-112329918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs531460605	chr7:112329942-112329943	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs193111256	chr7:112329952-112329953	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs183859520	chr7:112329967-112329968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs529072265	chr7:112330018-112330019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs547514879	chr7:112330048-112330049	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs565825645	chr7:112330166-112330167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs113611562	chr7:112330205-112330206	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs187662136	chr7:112330229-112330230	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570348621	chr7:112330277-112330278	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs537310161	chr7:112330278-112330279	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs192579100	chr7:112330311-112330312	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs574177689	chr7:112330316-112330317	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs376374125	chr7:112330317-112330318	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs79702598	chr7:112330415-112330416	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs144667599	chr7:112330434-112330435	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs73436469	chr7:112330436-112330437	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs545819749	chr7:112330461-112330462	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs184288648	chr7:112330462-112330463	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Myelofibrosis	22110671	CNVD
Squamous cell cancer	20885788	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16397240	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Autism	19401682	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:112329000-112330600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:112329200-112329600	Enhancers	Duodenum Mucosa	Duodenum
3	chr7:112329200-112330400	Enhancers	Placenta	Placenta
4	chr7:112329400-112330200	Enhancers	Fetal Intestine Small	intestine
5	chr7:112329600-112330600	Enhancers	Fetal Intestine Large	intestine
6	chr7:112330000-112330600	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr7:112330200-112330600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr7:112330200-112332400	Weak transcription	Fetal Intestine Small	intestine

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