Variant report

Variant	esv3478280
Chromosome Location	chr7:57965600-57975277
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 1311 )
Associated
traits (count: 68 )

Variant overlapped rSNPs/rCNVs (count:1311 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549866726	chr7:57965600-57965601	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs138515924	chr7:57965605-57965606	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs144694244	chr7:57965606-57965607	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs144782624	chr7:57965614-57965615	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs149032787	chr7:57965615-57965616	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs111252707	chr7:57965650-57965651	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs536153995	chr7:57965651-57965652	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs372170626	chr7:57965664-57965665	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs8188462	chr7:57965675-57965676	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs368343486	chr7:57965696-57965697	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs372101195	chr7:57965698-57965699	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs375987180	chr7:57965706-57965707	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs369080782	chr7:57965710-57965711	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs372689584	chr7:57965720-57965721	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs375894477	chr7:57965724-57965725	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs369107943	chr7:57965726-57965727	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs373793110	chr7:57965727-57965728	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs80352962	chr7:57965735-57965736	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs201166323	chr7:57965741-57965742	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs539571819	chr7:57965742-57965743	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs546282921	chr7:57965754-57965755	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs199843437	chr7:57965755-57965756	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs576017621	chr7:57965757-57965758	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs373894417	chr7:57965774-57965775	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs537057694	chr7:57965777-57965778	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs555014323	chr7:57965780-57965781	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs200412883	chr7:57965788-57965789	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs377020943	chr7:57965791-57965792	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs370337131	chr7:57965797-57965798	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs373587956	chr7:57965799-57965800	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs377033584	chr7:57965802-57965803	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs370307483	chr7:57965805-57965806	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs374036194	chr7:57965809-57965810	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs200764953	chr7:57965810-57965811	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs368310800	chr7:57965811-57965812	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs573643082	chr7:57965812-57965813	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs372011168	chr7:57965817-57965818	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs375477353	chr7:57965821-57965822	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs368555822	chr7:57965822-57965823	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs201432410	chr7:57965823-57965824	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs138000432	chr7:57965826-57965827	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs372862613	chr7:57965827-57965828	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs147328256	chr7:57965828-57965829	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs142584366	chr7:57965829-57965830	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs540916010	chr7:57965830-57965831	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs374784558	chr7:57965833-57965834	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs368841267	chr7:57965834-57965835	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs150945692	chr7:57965835-57965836	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs145543897	chr7:57965836-57965837	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs559156374	chr7:57965839-57965840	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:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:57945200-58001800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
2	chr7:57959600-58001600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:57961000-57976800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
4	chr7:57964000-57966000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
5	chr7:57965400-57965600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
6	chr7:57966200-57968200	ZNF genes & repeats	Liver	Liver
7	chr7:57968200-57968400	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
8	chr7:57968400-57971000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr7:57970600-57974000	ZNF genes & repeats	Primary T cells from cord blood	blood
10	chr7:57970600-58002000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
11	chr7:57970800-57971400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
12	chr7:57970800-57971800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
13	chr7:57971000-57971200	Bivalent Enhancer	Colonic Mucosa	Colon
14	chr7:57971000-57971400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
15	chr7:57971000-57971400	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
16	chr7:57971000-57971400	Flanking Bivalent TSS/Enh	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:57971000-57971400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr7:57971000-57971400	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr7:57971000-57971400	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
20	chr7:57971000-57971400	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
21	chr7:57971000-57971400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
22	chr7:57971000-57971400	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr7:57971000-57971400	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
24	chr7:57971000-57971400	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
25	chr7:57971000-57971400	Active TSS	Aorta	Aorta
26	chr7:57971000-57971400	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
27	chr7:57971000-57971400	ZNF genes & repeats	Colon Smooth Muscle	Colon
28	chr7:57971000-57971400	ZNF genes & repeats	Gastric	stomach
29	chr7:57971000-57971400	ZNF genes & repeats	Left Ventricle	heart
30	chr7:57971000-57971400	Bivalent/Poised TSS	Psoas Muscle	Psoas
31	chr7:57971000-57972400	ZNF genes & repeats	HUVEC	blood vessel
32	chr7:57971200-57971400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr7:57971200-57971400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr7:57971200-57971400	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
35	chr7:57971400-57973000	Weak transcription	Aorta	Aorta
36	chr7:57971400-57973400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr7:57971400-57973600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr7:57971400-57973600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr7:57971800-57973000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr7:57973000-57973200	Active TSS	Aorta	Aorta
41	chr7:57973200-57973600	Weak transcription	Aorta	Aorta
42	chr7:57973400-57973800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
43	chr7:57973400-57974000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
44	chr7:57973400-57974000	ZNF genes & repeats	HUVEC	blood vessel
45	chr7:57973600-57973800	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
46	chr7:57973600-57973800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr7:57973600-57973800	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr7:57973600-57973800	Active TSS	Aorta	Aorta
49	chr7:57973800-57975400	Weak transcription	Primary T killer memory cells from peripheral blood	blood

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