Variant report

Variant	esv3370357
Chromosome Location	chr7:50638271-50651392
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:50650775..50655570-chr7:50656344..50660954,5	K562	blood:
2	chr7:50625436..50627457-chr7:50643503..50646245,2	K562	blood:
3	chr7:50651220..50655570-chr7:50655911..50660457,6	K562	blood:

Extended variants
information (count: 255 )
Associated
traits (count: 128 )

Variant overlapped rSNPs/rCNVs (count:255 , 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	rs147612217	chr7:50645022-50645023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs533653945	chr7:50645054-50645055	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs540969745	chr7:50645081-50645082	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs554533941	chr7:50645110-50645111	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs528902455	chr7:50645130-50645131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs371959029	chr7:50645140-50645141	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs548763316	chr7:50645158-50645159	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs568949947	chr7:50645159-50645160	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs4947693	chr7:50645162-50645163	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs201229054	chr7:50645164-50645165	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs368206718	chr7:50645182-50645183	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs149071429	chr7:50645190-50645191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs117396770	chr7:50645216-50645217	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs117817906	chr7:50645229-50645230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs559617477	chr7:50645323-50645324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs535469741	chr7:50645344-50645345	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs555548096	chr7:50645345-50645346	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs187017560	chr7:50645348-50645349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs537991238	chr7:50645367-50645368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs11489736	chr7:50645372-50645373	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs564832081	chr7:50645377-50645378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs72497860	chr7:50645386-50645387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs530367356	chr7:50645395-50645396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs370031033	chr7:50645439-50645440	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs540885603	chr7:50645445-50645446	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs560776537	chr7:50645451-50645452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs7797311	chr7:50645452-50645453	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs542630008	chr7:50645463-50645464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs533522311	chr7:50645472-50645473	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs531425443	chr7:50645520-50645521	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs191393756	chr7:50645521-50645522	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs79996947	chr7:50645527-50645528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs527492528	chr7:50645538-50645539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs183665447	chr7:50645570-50645571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs372637111	chr7:50645582-50645583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs567242624	chr7:50645594-50645595	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs373961675	chr7:50645616-50645617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs186514000	chr7:50645621-50645622	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs549341806	chr7:50645638-50645639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs560735793	chr7:50645683-50645684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs538335656	chr7:50645703-50645704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs377261530	chr7:50645713-50645714	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs73342880	chr7:50645714-50645715	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs534411937	chr7:50645729-50645730	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs80115390	chr7:50645730-50645731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs190040900	chr7:50645734-50645735	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs542987897	chr7:50645780-50645781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs7791298	chr7:50645810-50645811	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs575947765	chr7:50645811-50645812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs7791300	chr7:50645819-50645820	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:128)

Disease	PMID	Source
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Biliary cancer	19435499	CNVD
Wilms tumour	21544195	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Medulloblastoma	21979893	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
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Autism	22495311	CNVD
Glioblastoma multiforme	18628472	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	17237825	CNVD
Gastric cancer	24379144	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Esophageal cancer	21851588	CNVD
Non-small cell lung cancer	17643093	CNVD
Ovarian cancer	18182111	CNVD
Colorectal cancer	16272173	CNVD
Glioblastoma multiforme	17369134	CNVD
Barrett''s esophagus	18559552	CNVD
head and neck squamous cell carcinoma	16943533	CNVD
Anaplastic thyroid cancer	17079354	CNVD
Basal-like breast cancer	17875215	CNVD
Colorectal cancer	16882699	CNVD
Colorectal cancer	18794099	CNVD
Gastrointestinal stromal cancer	17643098	CNVD
Lung cancer	18381415	CNVD
Metastatic colorectal cancer	17664472	CNVD
Non-small cell lung cancer	19255323	CNVD
Non-small cell lung cancer	17673923	CNVD
Non-small cell lung cancer	17975165	CNVD
Non-small cell lung cancer	19622585	CNVD
Ovarian cancer	16607561	CNVD
Squamous cell cancer	19670535	CNVD
head and neck squamous cell carcinoma	16818711	CNVD
small cell lung cancer	18829487	CNVD
Breast cancer	17661082	CNVD
Adenocarcinoma	19260752	CNVD
Esophageal cancer	16575012	CNVD
Lung adenocarcinoma	19138956	CNVD
Lung adenocarcinoma	18379350	CNVD
Lung adenocarcinoma	18258923	CNVD
Lung cancer	19138956	CNVD
Lung cancer	18379350	CNVD
Lung cancer	18258923	CNVD
Non-small cell lung cancer	18304967	CNVD
Non-small cell lung cancer	19451690	CNVD
Non-small cell lung cancer	19260752	CNVD
Non-small cell lung cancer	17079354	CNVD
Non-small cell lung cancer	18559607	CNVD
Rectal cancer	19506820	CNVD
Triple-negative breast cancer	18950515	CNVD
head and neck squamous cell carcinoma	18813952	CNVD
Non-small cell lung cancer	17504988	CNVD
Non-small cell lung cancer	16943533	CNVD
Non-small cell lung cancer	18509184	CNVD
head and neck squamous cell carcinoma	17538160	CNVD
Colorectal cancer	19712476	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Lung cancer	19671679	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
small cell lung cancer	20016488	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	16864856	CNVD
Hirschsprung''s Disease	21712996	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
early-passage human iPS cells	21368824	CNVD
Cancer	20164919	CNVD
Colorectal cancer	21645411	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50645000-50646600	Enhancers	Duodenum Mucosa	Duodenum
2	chr7:50645200-50646600	Enhancers	Fetal Intestine Large	intestine
3	chr7:50645200-50648600	Enhancers	Fetal Intestine Small	intestine
4	chr7:50646600-50647400	Weak transcription	Fetal Intestine Large	intestine
5	chr7:50646600-50647800	Weak transcription	Duodenum Mucosa	Duodenum
6	chr7:50647400-50648600	Enhancers	Fetal Intestine Large	intestine
7	chr7:50647600-50648400	Enhancers	Liver	Liver
8	chr7:50647600-50648800	Enhancers	HepG2	liver
9	chr7:50648000-50648200	Enhancers	Duodenum Mucosa	Duodenum
10	chr7:50649800-50650600	Weak transcription	Fetal Intestine Small	intestine
11	chr7:50650800-50659600	Weak transcription	Ovary	ovary
12	chr7:50651000-50651200	ZNF genes & repeats	Fetal Intestine Small	intestine

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