Variant report

Variant	esv3420920
Chromosome Location	chr7:71387166-71388614
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	chr7:71333279..71335851-chr7:71388173..71390730,2	K562	blood:

Extended variants
information (count: 66 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560473923	chr7:71387188-71387189	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs371945009	chr7:71387205-71387206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs191876495	chr7:71387206-71387207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs375054511	chr7:71387212-71387213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs549229614	chr7:71387239-71387240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs567152117	chr7:71387241-71387242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs74331311	chr7:71387328-71387329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs531294618	chr7:71387335-71387336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549647590	chr7:71387338-71387339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200892470	chr7:71387423-71387424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183725666	chr7:71387427-71387428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs559941664	chr7:71387468-71387469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs67895381	chr7:71387489-71387490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs374378365	chr7:71387542-71387543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs202111740	chr7:71387574-71387575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs188349649	chr7:71387603-71387604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs531392932	chr7:71387649-71387650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547900108	chr7:71387665-71387666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538883966	chr7:71387716-71387717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs561691694	chr7:71387725-71387726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs111219763	chr7:71387738-71387739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs9768616	chr7:71387744-71387745	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs185698254	chr7:71387747-71387748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs528026631	chr7:71387754-71387755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565909280	chr7:71387775-71387776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs536548581	chr7:71387779-71387780	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs200380540	chr7:71387832-71387833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs571094650	chr7:71387850-71387851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs199741505	chr7:71387876-71387877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375518516	chr7:71387877-71387878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs398005169	chr7:71387881-71387882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs371673628	chr7:71387960-71387961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs555205321	chr7:71387967-71387968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs576400611	chr7:71387979-71387980	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550302385	chr7:71387986-71387987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs570073227	chr7:71387987-71387988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368926355	chr7:71387988-71387989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs189823097	chr7:71387991-71387992	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs577401099	chr7:71387999-71388000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs138129976	chr7:71388012-71388013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs368445406	chr7:71388013-71388014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs75343461	chr7:71388020-71388021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs60064772	chr7:71388033-71388034	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs6460695	chr7:71388036-71388037	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs572479641	chr7:71388069-71388070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs527434244	chr7:71388100-71388101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs181790756	chr7:71388177-71388178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs561224900	chr7:71388203-71388204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs74430406	chr7:71388220-71388221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs549738187	chr7:71388237-71388238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Breast cancer	22522925	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:71380400-71387600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr7:71381600-71395200	Weak transcription	Thymus	Thymus
3	chr7:71382200-71390800	Weak transcription	Fetal Thymus	thymus
4	chr7:71386600-71387200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr7:71386800-71387200	ZNF genes & repeats	Pancreas	Pancrea

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