Variant report

Variant	esv3325563
Chromosome Location	chr7:71808816-71811064
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	chr7:71804343..71806702-chr7:71808239..71810092,2	K562	blood:
2	chr7:71810202..71812135-chr7:71814451..71816672,2	K562	blood:

Extended variants
information (count: 105 )
Associated
traits (count: 131 )

Variant overlapped rSNPs/rCNVs (count:105 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533564910	chr7:71808818-71808819	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs532933231	chr7:71808830-71808831	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs192933872	chr7:71808833-71808834	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs2944816	chr7:71808839-71808840	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs567016576	chr7:71808884-71808885	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs140353401	chr7:71808910-71808911	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs548962987	chr7:71808918-71808919	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs145511160	chr7:71808921-71808922	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs549434982	chr7:71808923-71808924	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs138137031	chr7:71808938-71808939	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200042263	chr7:71809004-71809005	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs555736672	chr7:71809005-71809006	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs141157030	chr7:71809028-71809029	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs557385430	chr7:71809033-71809034	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571989694	chr7:71809059-71809060	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs185417755	chr7:71809062-71809063	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs150401804	chr7:71809067-71809068	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs115142541	chr7:71809088-71809089	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542799943	chr7:71809114-71809115	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533900397	chr7:71809120-71809121	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs555833447	chr7:71809134-71809135	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs113223466	chr7:71809138-71809139	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs571056482	chr7:71809175-71809176	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs574021087	chr7:71809299-71809300	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs533091686	chr7:71809323-71809324	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs17674025	chr7:71809414-71809415	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs559964032	chr7:71809415-71809416	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs111365121	chr7:71809471-71809472	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs79080648	chr7:71809532-71809533	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs560975780	chr7:71809538-71809539	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs548765416	chr7:71809546-71809547	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs138165781	chr7:71809552-71809553	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560047154	chr7:71809629-71809630	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs71515108	chr7:71809630-71809631	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs28679361	chr7:71809631-71809632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs398047779	chr7:71809636-71809637	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs28691158	chr7:71809637-71809638	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs181587047	chr7:71809642-71809643	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183742657	chr7:71809644-71809645	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs571952864	chr7:71809668-71809669	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs6947734	chr7:71809679-71809680	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs539367104	chr7:71809697-71809698	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs548006057	chr7:71809713-71809714	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs566315918	chr7:71809768-71809769	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs373749590	chr7:71809850-71809851	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs111219857	chr7:71809880-71809881	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs536861867	chr7:71809894-71809895	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs149584264	chr7:71809900-71809901	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs6950883	chr7:71809932-71809933	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs537035874	chr7:71809971-71809972	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:131)

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
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
Neurodevelopmental disorder	22521361	CNVD
Renal cell carcinoma	18765545	CNVD
Chordoma	18071362	CNVD
Williams Syndrome	20824207	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Williams Syndrome	16773131	CNVD
Breast cancer	16417655	CNVD
Rheumatoid arthritis	21728841	CNVD
Congenital abnormalities	21549014	CNVD
Developmental delay	18414209	CNVD
Developmental delay	21549014	CNVD
Mental retardation	18414209	CNVD
Mental retardation	21549014	CNVD
Williams Syndrome	16617304	CNVD
Williams Syndrome	20206275	CNVD
Williams Syndrome	16199537	CNVD
Williams Syndrome	18923514	CNVD
Williams Syndrome	20970697	CNVD
Williams-beuren syndrome	20926892	CNVD
Williams-beuren syndrome	21808859	CNVD
periventricular nodular heterotopia	20648244	CNVD
Williams Syndrome	20425783	CNVD
Williams-beuren syndrome	22226172	CNVD
Williams-beuren syndrome	18923513	CNVD
Williams-beuren syndrome	17565757	CNVD
Williams-beuren syndrome	18787571	CNVD
Williams Syndrome	22241247	CNVD
Autism	21686962	CNVD
Autism	20970697	CNVD
Epilepsy	22118685	CNVD
Epilepsy	20970697	CNVD
Mental retardation	19951919	CNVD
Mental retardation	21686962	CNVD
Schizophrenia	22118685	CNVD
Williams-beuren syndrome	18337728	CNVD
language delay	21686962	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Prostate cancer	16573809	CNVD
Mental retardation	16773131	CNVD
Colorectal cancer	19455253	CNVD
Williams-beuren syndrome	16971481	CNVD
Idiopathic infantile hypercalcaemia	20466674	CNVD
Williams Syndrome	18308711	CNVD
Williams Syndrome	19255058	CNVD
Williams Syndrome	18924169	CNVD
Williams Syndrome	21939500	CNVD
Williams Syndrome	20425784	CNVD
Williams Syndrome	22241097	CNVD
Williams Syndrome	19176822	CNVD
Williams Syndrome	17505701	CNVD
Supravalvular aortic stenosis	19844261	CNVD
Williams Syndrome	16760918	CNVD
Williams-beuren syndrome	18452001	CNVD
Williams-beuren syndrome	19880526	CNVD
Autism	17666889	CNVD
speech delay	17666889	CNVD
Metanephric adenoma	20802469	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:71803000-71812800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr7:71807200-71810800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:71808000-71810400	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr7:71808200-71809000	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr7:71808200-71809000	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr7:71808400-71809000	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr7:71808600-71809200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr7:71808600-71809400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
9	chr7:71808600-71809400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr7:71808600-71809600	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr7:71808600-71809600	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr7:71808600-71809800	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr7:71808800-71809000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr7:71808800-71809000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:71809000-71813400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr7:71809200-71813800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr7:71809600-71813200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr7:71809600-71813600	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr7:71809800-71810200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr7:71810200-71810400	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr7:71810400-71813400	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr7:71810400-71813800	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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