Variant report

Variant	esv3376984
Chromosome Location	chr7:14456877-14459100
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 109 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:109 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34628921	chr7:14456902-14456903	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs186634388	chr7:14456908-14456909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs189862527	chr7:14456943-14456944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs527591705	chr7:14457015-14457016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs541330591	chr7:14457080-14457081	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs79781340	chr7:14457082-14457083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs150791615	chr7:14457108-14457109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs11974174	chr7:14457128-14457129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564946385	chr7:14457160-14457161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549639223	chr7:14457164-14457165	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs182771040	chr7:14457242-14457243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs76691514	chr7:14457273-14457274	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs139216683	chr7:14457274-14457275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548058561	chr7:14457289-14457290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs143743942	chr7:14457292-14457293	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs568270241	chr7:14457302-14457303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs534264948	chr7:14457321-14457322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs544216388	chr7:14457326-14457327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs144571157	chr7:14457327-14457328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs547672933	chr7:14457345-14457346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs570788462	chr7:14457371-14457372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs539796031	chr7:14457393-14457394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs556256142	chr7:14457394-14457395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs147237396	chr7:14457406-14457407	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs143468307	chr7:14457429-14457430	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs73068025	chr7:14457564-14457565	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs73068026	chr7:14457610-14457611	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs546509745	chr7:14457620-14457621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs188233076	chr7:14457628-14457629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs566671823	chr7:14457636-14457637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs118087558	chr7:14457678-14457679	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs200522767	chr7:14457750-14457751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs199719852	chr7:14457751-14457752	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs564385448	chr7:14457758-14457759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs140715371	chr7:14457817-14457818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs543424793	chr7:14457820-14457821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs565100770	chr7:14457823-14457824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs373844268	chr7:14457843-14457844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs71033998	chr7:14457844-14457845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs386409561	chr7:14457849-14457850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs398111083	chr7:14457850-14457851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs563098625	chr7:14457852-14457853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200909836	chr7:14457877-14457878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs201697592	chr7:14457879-14457880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs199974849	chr7:14457890-14457891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs528960745	chr7:14457897-14457898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs548663200	chr7:14457900-14457901	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs568971850	chr7:14457911-14457912	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs372296355	chr7:14457951-14457952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs10242231	chr7:14457952-14457953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Melanoma	17363583	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	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
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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Pancreatic cancer	17952125	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Colorectal cancer	21645411	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:14454200-14462400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:14454400-14458000	Weak transcription	Fetal Heart	heart
3	chr7:14455600-14458200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:14456800-14458200	Weak transcription	Fetal Lung	lung
5	chr7:14458000-14459600	Enhancers	Fetal Heart	heart
6	chr7:14458200-14458400	Enhancers	Fetal Intestine Small	intestine
7	chr7:14458200-14459600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:14458200-14459800	Enhancers	Fetal Lung	lung
9	chr7:14458400-14459400	Weak transcription	Fetal Intestine Small	intestine
10	chr7:14458400-14459800	Enhancers	Fetal Intestine Large	intestine
11	chr7:14459000-14459600	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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