Variant report

Variant	esv1796691
Chromosome Location	chr7:71584524-71587252
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	chr7:71585300..71586969-chr7:71589158..71591405,2	K562	blood:
2	chr7:71586492..71588717-chr7:71593112..71596072,2	K562	blood:

Extended variants
information (count: 123 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:123 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562991241	chr7:71584562-71584563	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs181681140	chr7:71584644-71584645	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs551340448	chr7:71584689-71584690	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs375452983	chr7:71584708-71584709	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs566563696	chr7:71584726-71584727	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs860002	chr7:71584805-71584806	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs542551504	chr7:71584806-71584807	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs184682790	chr7:71584819-71584820	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs189905246	chr7:71584857-71584858	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs535645577	chr7:71584872-71584873	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs556914994	chr7:71584889-71584890	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs532290027	chr7:71584916-71584917	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs568967318	chr7:71584929-71584930	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs2107730	chr7:71584936-71584937	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs557771080	chr7:71584972-71584973	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs180757246	chr7:71584982-71584983	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs540541332	chr7:71584985-71584986	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs369083388	chr7:71584986-71584987	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs116065389	chr7:71585000-71585001	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs544789366	chr7:71585006-71585007	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs562769496	chr7:71585010-71585011	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs527730871	chr7:71585022-71585023	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs563836494	chr7:71585033-71585034	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs533237193	chr7:71585044-71585045	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs141613450	chr7:71585046-71585047	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs560088911	chr7:71585050-71585051	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs528197357	chr7:71585065-71585066	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs527683296	chr7:71585091-71585092	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs11760663	chr7:71585116-71585117	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs2158562	chr7:71585126-71585127	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs79788848	chr7:71585134-71585135	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs550727091	chr7:71585135-71585136	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs202143978	chr7:71585172-71585173	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs569106746	chr7:71585182-71585183	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs539506420	chr7:71585203-71585204	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs570332280	chr7:71585246-71585247	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs147143784	chr7:71585250-71585251	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs140356774	chr7:71585254-71585255	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs201929034	chr7:71585264-71585265	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs369153566	chr7:71585302-71585303	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs533775032	chr7:71585435-71585436	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs555117325	chr7:71585450-71585451	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs73701674	chr7:71585464-71585465	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538190940	chr7:71585471-71585472	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs556307662	chr7:71585499-71585500	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs577840538	chr7:71585504-71585505	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs144307319	chr7:71585521-71585522	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs373263334	chr7:71585639-71585640	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs559320682	chr7:71585661-71585662	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs560225007	chr7:71585688-71585689	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:71575000-71587000	Weak transcription	Thymus	Thymus
2	chr7:71581600-71594600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr7:71582200-71589000	Weak transcription	Pancreas	Pancrea
4	chr7:71583400-71584600	Strong transcription	Fetal Thymus	thymus
5	chr7:71583600-71585800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr7:71584200-71585000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr7:71584600-71585000	ZNF genes & repeats	Fetal Thymus	thymus
8	chr7:71585000-71585400	Weak transcription	Fetal Thymus	thymus
9	chr7:71585000-71587400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr7:71585400-71588200	Strong transcription	Fetal Thymus	thymus
11	chr7:71585800-71586000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr7:71586000-71589000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr7:71587000-71588200	Strong transcription	Thymus	Thymus

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