Variant report

Variant	esv3364867
Chromosome Location	chr7:70538350-70562205
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 650 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:650 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs148357230	chr7:70538358-70538359	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs117580173	chr7:70538428-70538429	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs181349477	chr7:70538437-70538438	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs557975188	chr7:70538443-70538444	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs186364127	chr7:70538530-70538531	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs144610734	chr7:70538534-70538535	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs191726796	chr7:70538544-70538545	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs141504636	chr7:70538578-70538579	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs80080883	chr7:70538627-70538628	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs549922911	chr7:70538659-70538660	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs150432229	chr7:70538700-70538701	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs138183876	chr7:70538704-70538705	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs554921367	chr7:70538717-70538718	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs200402930	chr7:70538718-70538719	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs10573406	chr7:70538719-70538720	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs544532386	chr7:70538720-70538721	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs397800486	chr7:70538727-70538728	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs398005144	chr7:70538728-70538729	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs182946808	chr7:70538777-70538778	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs138051632	chr7:70538799-70538800	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs77302739	chr7:70538801-70538802	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs529999466	chr7:70538847-70538848	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs368425954	chr7:70538890-70538891	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs569731402	chr7:70538945-70538946	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs12534300	chr7:70538964-70538965	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs538264080	chr7:70539007-70539008	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs558812798	chr7:70539016-70539017	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs541957482	chr7:70539058-70539059	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs541177697	chr7:70539059-70539060	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs558480699	chr7:70539091-70539092	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs559833300	chr7:70539102-70539103	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs527354698	chr7:70539120-70539121	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs542337624	chr7:70539145-70539146	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs572693602	chr7:70539204-70539205	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs574687441	chr7:70539251-70539252	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs373556709	chr7:70539254-70539255	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs188067306	chr7:70539264-70539265	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs190990303	chr7:70539265-70539266	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs531200645	chr7:70539266-70539267	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs139438904	chr7:70539275-70539276	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs540385994	chr7:70539284-70539285	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs183243649	chr7:70539303-70539304	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs186886353	chr7:70539312-70539313	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs547579448	chr7:70539325-70539326	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs566063137	chr7:70539329-70539330	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs536779399	chr7:70539339-70539340	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs548376204	chr7:70539435-70539436	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs570070626	chr7:70539518-70539519	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs537042640	chr7:70539525-70539526	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs4719058	chr7:70539565-70539566	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17170743	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	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
Wilms tumour	21544195	CNVD
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	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
T-cell prolymphocytic leukemia	17713554	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	16461572	CNVD
Acute monocytic leukemia	16498392	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Neurodevelopmental disorder	22521361	CNVD
Renal cell carcinoma	18765545	CNVD
Chordoma	18071362	CNVD
Williams Syndrome	20824207	CNVD
Dyslexia	22102821	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:70538200-70539600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
2	chr7:70542600-70543400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:70543400-70552600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:70549000-70549200	Enhancers	HSMM	muscle
5	chr7:70552800-70553200	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr7:70560400-70561800	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr7:70561400-70561800	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr7:70561400-70562000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr7:70561600-70562000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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