Variant report

Variant	esv3322876
Chromosome Location	chr7:71585316-71587739
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: 96 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533775032	chr7:71585435-71585436	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs555117325	chr7:71585450-71585451	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs73701674	chr7:71585464-71585465	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs538190940	chr7:71585471-71585472	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs556307662	chr7:71585499-71585500	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577840538	chr7:71585504-71585505	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs144307319	chr7:71585521-71585522	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs373263334	chr7:71585639-71585640	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs559320682	chr7:71585661-71585662	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs560225007	chr7:71585688-71585689	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs572485161	chr7:71585703-71585704	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs4717627	chr7:71585705-71585706	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs368988200	chr7:71585728-71585729	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs77466194	chr7:71585729-71585730	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186094476	chr7:71585744-71585745	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575849371	chr7:71585758-71585759	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs562644646	chr7:71585775-71585776	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs533162722	chr7:71585805-71585806	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs147810212	chr7:71585815-71585816	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs76456736	chr7:71585881-71585882	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs533679802	chr7:71585905-71585906	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs77550177	chr7:71586021-71586022	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548948785	chr7:71586026-71586027	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs861491	chr7:71586049-71586050	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs112163919	chr7:71586068-71586069	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs529598916	chr7:71586157-71586158	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs548653708	chr7:71586173-71586174	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190738051	chr7:71586182-71586183	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs556446095	chr7:71586192-71586193	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs860001	chr7:71586211-71586212	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs565675595	chr7:71586252-71586253	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs528131531	chr7:71586256-71586257	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs35689759	chr7:71586261-71586262	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs571392499	chr7:71586277-71586278	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538840307	chr7:71586279-71586280	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs860000	chr7:71586296-71586297	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs181850623	chr7:71586301-71586302	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs149939926	chr7:71586321-71586322	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs145068511	chr7:71586352-71586353	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs376063553	chr7:71586362-71586363	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576380417	chr7:71586364-71586365	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs544470794	chr7:71586374-71586375	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs536815960	chr7:71586413-71586414	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545900689	chr7:71586448-71586449	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs562778811	chr7:71586454-71586455	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs533313676	chr7:71586468-71586469	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370545721	chr7:71586483-71586484	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs76747840	chr7:71586509-71586510	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs527346359	chr7:71586527-71586528	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs548828950	chr7:71586590-71586591	Weak transcription 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:11 , 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	chr7:71583600-71585800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr7:71585000-71585400	Weak transcription	Fetal Thymus	thymus
6	chr7:71585000-71587400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr7:71585400-71588200	Strong transcription	Fetal Thymus	thymus
8	chr7:71585800-71586000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr7:71586000-71589000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr7:71587000-71588200	Strong transcription	Thymus	Thymus
11	chr7:71587400-71588000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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