Variant report

Variant	esv1842417
Chromosome Location	chr7:38626191-38634578
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:38630128..38631798-chr7:38634013..38636339,2	K562	blood:
2	chr7:38630128..38631798-chr7:38634013..38636339,2	K562	blood:

Extended variants
information (count: 400 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:400 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10269719	chr7:38626205-38626206	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs181193660	chr7:38626219-38626220	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs58676774	chr7:38626229-38626230	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs375461132	chr7:38626230-38626231	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs35172126	chr7:38626254-38626255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs534838237	chr7:38626274-38626275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs57620524	chr7:38626293-38626294	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs577894521	chr7:38626294-38626295	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs566221219	chr7:38626301-38626302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs546357973	chr7:38626342-38626343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs556689339	chr7:38626349-38626350	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs551283452	chr7:38626387-38626388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs536554114	chr7:38626432-38626433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs75078172	chr7:38626491-38626492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs202223236	chr7:38626495-38626496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370542864	chr7:38626498-38626499	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562429818	chr7:38626507-38626508	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs117733396	chr7:38626520-38626521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs17171406	chr7:38626524-38626525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs570114601	chr7:38626536-38626537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs10499604	chr7:38626562-38626563	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs564380708	chr7:38626564-38626565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs62444239	chr7:38626611-38626612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113399829	chr7:38626613-38626614	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs201727604	chr7:38626614-38626615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs199879798	chr7:38626616-38626617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs148962861	chr7:38626624-38626625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs144414850	chr7:38626637-38626638	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs574755010	chr7:38626639-38626640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs117831611	chr7:38626668-38626669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs559056136	chr7:38626671-38626672	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs371616622	chr7:38626724-38626725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs569371774	chr7:38626811-38626812	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs528897387	chr7:38626819-38626820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs548672577	chr7:38626831-38626832	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs10499605	chr7:38626844-38626845	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs146388176	chr7:38626867-38626868	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs138312758	chr7:38626904-38626905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs569515852	chr7:38626911-38626912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs572293994	chr7:38626962-38626963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs556713851	chr7:38626996-38626997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs527295690	chr7:38627043-38627044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs542289946	chr7:38627059-38627060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185873117	chr7:38627093-38627094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs572397416	chr7:38627139-38627140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs542559182	chr7:38627175-38627176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs188248202	chr7:38627187-38627188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560525647	chr7:38627201-38627202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs372950646	chr7:38627221-38627222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs577825974	chr7:38627222-38627223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
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
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
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
lymphocytic leukemia	21291569	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Glioblastoma multiforme	18628472	CNVD
Cancer	21183584	CNVD
Breast cancer	21785460	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	21251322	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Prostate cancer	18632612	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Acute myeloid leukemia	17237825	CNVD
Breast cancer	17899364	CNVD
Breast cancer	20409316	CNVD
Acute monocytic leukemia	16498392	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	21645411	CNVD
Colorectal cancer	19455253	CNVD
Glioblastoma multiforme	22286061	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Sezary syndrome	18413736	CNVD
Gastric cancer	24379144	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:38608400-38634800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:38615400-38626800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr7:38623200-38626200	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr7:38623400-38629400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:38625000-38634600	Weak transcription	Right Atrium	heart
6	chr7:38625400-38641200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr7:38625600-38626400	Enhancers	Fetal Heart	heart
8	chr7:38626000-38633400	Weak transcription	Aorta	Aorta
9	chr7:38626000-38633600	Weak transcription	Fetal Stomach	stomach
10	chr7:38626200-38640400	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr7:38626800-38627000	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr7:38627400-38628000	Enhancers	Fetal Brain Male	brain
13	chr7:38629400-38630400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr7:38629400-38630800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:38630400-38634600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr7:38631200-38633600	Weak transcription	Esophagus	oesophagus
17	chr7:38632400-38632600	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr7:38633400-38633800	ZNF genes & repeats	Aorta	Aorta
19	chr7:38633600-38633800	ZNF genes & repeats	Fetal Stomach	stomach
20	chr7:38633800-38637600	Weak transcription	Fetal Stomach	stomach
21	chr7:38633800-38640600	Weak transcription	Aorta	Aorta

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