Variant report

Variant	esv3387478
Chromosome Location	chr7:58048110-58054208
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 807 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:807 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76136204	chr7:58048118-58048119	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs79413768	chr7:58048121-58048122	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs570377792	chr7:58048122-58048123	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs79313517	chr7:58048134-58048135	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs568583086	chr7:58048136-58048137	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs375973974	chr7:58048141-58048142	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs201341973	chr7:58048156-58048157	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs111474542	chr7:58048158-58048159	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs573882629	chr7:58048178-58048179	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs113574236	chr7:58048187-58048188	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs556062214	chr7:58048191-58048192	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs112858519	chr7:58048193-58048194	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs111828251	chr7:58048209-58048210	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs111462563	chr7:58048218-58048219	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs112563265	chr7:58048225-58048226	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs562738590	chr7:58048252-58048253	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs79275952	chr7:58048259-58048260	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs555046339	chr7:58048262-58048263	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs201882423	chr7:58048267-58048268	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs573275566	chr7:58048280-58048281	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs373198083	chr7:58048306-58048307	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs199813778	chr7:58048310-58048311	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs35698338	chr7:58048318-58048319	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs182963617	chr7:58048324-58048325	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs545378286	chr7:58048358-58048359	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs113190162	chr7:58048365-58048366	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs544819263	chr7:58048371-58048372	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs546077351	chr7:58048381-58048382	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs565389929	chr7:58048385-58048386	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs535605879	chr7:58048386-58048387	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs562927824	chr7:58048388-58048389	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs529839681	chr7:58048399-58048400	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs188472722	chr7:58048403-58048404	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs559770521	chr7:58048412-58048413	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs527777784	chr7:58048413-58048414	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs557242460	chr7:58048427-58048428	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs570439339	chr7:58048428-58048429	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs531488789	chr7:58048443-58048444	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs184646162	chr7:58048449-58048450	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs549988421	chr7:58048470-58048471	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs568158394	chr7:58048492-58048493	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs535588419	chr7:58048493-58048494	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs548709621	chr7:58048496-58048497	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs535601244	chr7:58048502-58048503	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs534207455	chr7:58048511-58048512	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs558970173	chr7:58048517-58048518	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs62459548	chr7:58048519-58048520	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs565918397	chr7:58048532-58048533	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs374504134	chr7:58048559-58048560	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs79827411	chr7:58048563-58048564	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
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
Wilms tumour	21544195	CNVD
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	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
Autism	22495311	CNVD
Biliary cancer	19435499	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
head and neck squamous cell carcinoma	17671120	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:58044800-58054200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
2	chr7:58044800-58054400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:58044800-58054400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
4	chr7:58045000-58054200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
5	chr7:58049200-58049400	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr7:58049600-58050000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr7:58050400-58050600	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
8	chr7:58050400-58050600	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr7:58050400-58050600	ZNF genes & repeats	Fetal Kidney	kidney
10	chr7:58050400-58050600	ZNF genes & repeats	Left Ventricle	heart
11	chr7:58050400-58050800	ZNF genes & repeats	Dnd41	blood
12	chr7:58050600-58050800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
13	chr7:58050600-58051000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr7:58052600-58053200	Active TSS	Fetal Heart	heart
15	chr7:58052800-58054200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
16	chr7:58052800-58054400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
17	chr7:58053200-58054400	ZNF genes & repeats	Fetal Heart	heart
18	chr7:58053200-58054400	ZNF genes & repeats	Gastric	stomach
19	chr7:58054000-58054200	Enhancers	Aorta	Aorta
20	chr7:58054000-58054200	Enhancers	Thymus	Thymus
21	chr7:58054000-58054400	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr7:58054000-58054400	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr7:58054000-58054400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
24	chr7:58054000-58054400	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
25	chr7:58054000-58054400	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
26	chr7:58054000-58054400	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
27	chr7:58054000-58054400	Active TSS	Psoas Muscle	Psoas

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