Variant report

Variant	esv3416894
Chromosome Location	chr7:67314017-67315915
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 138 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:138 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562925580	chr7:67314222-67314223	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs530895789	chr7:67314232-67314233	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs183286403	chr7:67314236-67314237	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs567922232	chr7:67314280-67314281	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs530248191	chr7:67314307-67314308	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs35227483	chr7:67314327-67314328	Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs188206804	chr7:67314360-67314361	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs558187440	chr7:67314390-67314391	Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs538415707	chr7:67314403-67314404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs369360855	chr7:67314427-67314428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs537817390	chr7:67314432-67314433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs554580189	chr7:67314472-67314473	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs193169325	chr7:67314483-67314484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs35850158	chr7:67314531-67314532	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs184799663	chr7:67314540-67314541	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs577104125	chr7:67314541-67314542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs189386764	chr7:67314542-67314543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs147039867	chr7:67314545-67314546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs12698624	chr7:67314568-67314569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192624384	chr7:67314621-67314622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs13308229	chr7:67314665-67314666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374932136	chr7:67314669-67314670	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs548088629	chr7:67314682-67314683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs148901861	chr7:67314684-67314685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs13306959	chr7:67314686-67314687	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs571090766	chr7:67314687-67314688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201181289	chr7:67314688-67314689	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs199639623	chr7:67314690-67314691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs372049728	chr7:67314701-67314702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs78014512	chr7:67314702-67314703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs75528241	chr7:67314704-67314705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs145060233	chr7:67314706-67314707	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs201310506	chr7:67314708-67314709	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201289164	chr7:67314721-67314722	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs199761526	chr7:67314732-67314733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369971853	chr7:67314745-67314746	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs534913531	chr7:67314747-67314748	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs71565135	chr7:67314754-67314755	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs536997685	chr7:67314759-67314760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs112286910	chr7:67314760-67314761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs201497393	chr7:67314769-67314770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs183750993	chr7:67314770-67314771	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs138013792	chr7:67314774-67314775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs13247193	chr7:67314778-67314779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs371788470	chr7:67314781-67314782	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs13234868	chr7:67314782-67314783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs372882829	chr7:67314785-67314786	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs149511750	chr7:67314806-67314807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201731388	chr7:67314808-67314809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs375448489	chr7:67314809-67314810	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
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
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
Hodgkin''s lymphoma	18641027	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

Chromatin state (count:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:67314200-67314400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
2	chr7:67314200-67314400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr7:67314400-67315600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:67315600-67316200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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