Variant report

Variant	esv3415713
Chromosome Location	chr7:57961527-57982613
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 2752 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:2752 , 50 per page) page: 1 2 3 4 5 6 7 ... 56

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78235722	chr7:57961536-57961537	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs575047844	chr7:57961546-57961547	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs542069047	chr7:57961569-57961570	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs112288912	chr7:57961574-57961575	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs75230372	chr7:57961579-57961580	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs369741427	chr7:57961584-57961585	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs373512620	chr7:57961585-57961586	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs374769513	chr7:57961592-57961593	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs560690309	chr7:57961596-57961597	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs201728291	chr7:57961599-57961600	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs369175159	chr7:57961600-57961601	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs372835056	chr7:57961606-57961607	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs377247021	chr7:57961608-57961609	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs113687648	chr7:57961614-57961615	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs572093074	chr7:57961615-57961616	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs370910009	chr7:57961627-57961628	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs113086554	chr7:57961628-57961629	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs545905498	chr7:57961641-57961642	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs142701923	chr7:57961649-57961650	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs374241094	chr7:57961658-57961659	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs564107217	chr7:57961661-57961662	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs377658612	chr7:57961664-57961665	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs531314600	chr7:57961666-57961667	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs371126393	chr7:57961670-57961671	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs543416301	chr7:57961671-57961672	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs199910125	chr7:57961678-57961679	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs560364712	chr7:57961683-57961684	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs367687490	chr7:57961686-57961687	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs117632971	chr7:57961693-57961694	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs561852658	chr7:57961694-57961695	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs370563181	chr7:57961696-57961697	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs529144096	chr7:57961702-57961703	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs373918493	chr7:57961706-57961707	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs368147951	chr7:57961707-57961708	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs371682027	chr7:57961711-57961712	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs200912152	chr7:57961714-57961715	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs547276262	chr7:57961718-57961719	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs371118016	chr7:57961722-57961723	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs565861370	chr7:57961727-57961728	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs62460602	chr7:57961732-57961733	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs200173217	chr7:57961740-57961741	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs527818178	chr7:57961741-57961742	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs552237063	chr7:57961742-57961743	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs62460603	chr7:57961748-57961749	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs570539236	chr7:57961750-57961751	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs537869002	chr7:57961751-57961752	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs556486455	chr7:57961755-57961756	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs77344456	chr7:57961763-57961764	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs201412716	chr7:57961767-57961768	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs111372351	chr7:57961769-57961770	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:68)

Disease	PMID	Source
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
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
Endometrioid adenocarcinoma	16974079	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
head and neck squamous cell carcinoma	17671120	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Glioma	17634744	CNVD
Oral squamous cell carcinoma	19276369	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Lung cancer	20031968	CNVD
Glioblastoma	17090523	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Glioma	17123091	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Medulloblastoma	21163964	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:57945200-58001800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr7:57958000-57961800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:57959600-58001600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr7:57961000-57976800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
5	chr7:57961800-57962200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:57961800-57962200	ZNF genes & repeats	Left Ventricle	heart
7	chr7:57961800-57962200	ZNF genes & repeats	Psoas Muscle	Psoas
8	chr7:57961800-57962200	Active TSS	Small Intestine	intestine
9	chr7:57964000-57966000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
10	chr7:57965400-57965600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
11	chr7:57966200-57968200	ZNF genes & repeats	Liver	Liver
12	chr7:57968200-57968400	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
13	chr7:57968400-57971000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr7:57970600-57974000	ZNF genes & repeats	Primary T cells from cord blood	blood
15	chr7:57970600-58002000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
16	chr7:57970800-57971400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
17	chr7:57970800-57971800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
18	chr7:57971000-57971200	Bivalent Enhancer	Colonic Mucosa	Colon
19	chr7:57971000-57971400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
20	chr7:57971000-57971400	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
21	chr7:57971000-57971400	Flanking Bivalent TSS/Enh	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:57971000-57971400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr7:57971000-57971400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr7:57971000-57971400	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
25	chr7:57971000-57971400	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
26	chr7:57971000-57971400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
27	chr7:57971000-57971400	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr7:57971000-57971400	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
29	chr7:57971000-57971400	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
30	chr7:57971000-57971400	Active TSS	Aorta	Aorta
31	chr7:57971000-57971400	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
32	chr7:57971000-57971400	ZNF genes & repeats	Colon Smooth Muscle	Colon
33	chr7:57971000-57971400	ZNF genes & repeats	Gastric	stomach
34	chr7:57971000-57971400	ZNF genes & repeats	Left Ventricle	heart
35	chr7:57971000-57971400	Bivalent/Poised TSS	Psoas Muscle	Psoas
36	chr7:57971000-57972400	ZNF genes & repeats	HUVEC	blood vessel
37	chr7:57971200-57971400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr7:57971200-57971400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr7:57971200-57971400	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
40	chr7:57971400-57973000	Weak transcription	Aorta	Aorta
41	chr7:57971400-57973400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr7:57971400-57973600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr7:57971400-57973600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr7:57971800-57973000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr7:57973000-57973200	Active TSS	Aorta	Aorta
46	chr7:57973200-57973600	Weak transcription	Aorta	Aorta
47	chr7:57973400-57973800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
48	chr7:57973400-57974000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
49	chr7:57973400-57974000	ZNF genes & repeats	HUVEC	blood vessel
50	chr7:57973600-57973800	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell

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