Variant report

Variant	esv2764009
Chromosome Location	chr7:10792150-10808021
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:10803159..10807219-chr7:10807656..10811292,5	K562	blood:
2	chr7:10795829..10798121-chr7:10807049..10811087,3	K562	blood:
3	chr7:10803159..10807219-chr7:10807656..10811292,5	K562	blood:
4	chr7:10803747..10805701-chr7:10813863..10816423,2	K562	blood:
5	chr7:10807031..10808703-chr7:10828329..10831048,2	K562	blood:
6	chr7:10795829..10798121-chr7:10807049..10811087,3	K562	blood:
7	chr7:10795591..10798221-chr7:10854575..10857146,3	K562	blood:
8	chr7:10771076..10773023-chr7:10803352..10806015,3	K562	blood:

No data

Extended variants
information (count: 621 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:621 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563286798	chr7:10792167-10792168	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs201722266	chr7:10792191-10792192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs529163848	chr7:10792192-10792193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs548718422	chr7:10792201-10792202	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565886143	chr7:10792202-10792203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs200243476	chr7:10792203-10792204	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs9769500	chr7:10792209-10792210	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs146080973	chr7:10792250-10792251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs571527909	chr7:10792287-10792288	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs148719608	chr7:10792337-10792338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557677311	chr7:10792340-10792341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574343908	chr7:10792341-10792342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs536967095	chr7:10792342-10792343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs553256802	chr7:10792358-10792359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs142248234	chr7:10792439-10792440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs151247323	chr7:10792444-10792445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs564254963	chr7:10792448-10792449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs577210776	chr7:10792450-10792451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs190890582	chr7:10792488-10792489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs562951580	chr7:10792529-10792530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs12699148	chr7:10792555-10792556	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs376349185	chr7:10792573-10792574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs145289014	chr7:10792602-10792603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs183314478	chr7:10792620-10792621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs528314807	chr7:10792634-10792635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs571202796	chr7:10792645-10792646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs551579602	chr7:10792647-10792648	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs2189539	chr7:10792659-10792660	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs187996875	chr7:10792682-10792683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs548129736	chr7:10792719-10792720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2189538	chr7:10792725-10792726	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs567679628	chr7:10792733-10792734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531271727	chr7:10792764-10792765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs192137229	chr7:10792767-10792768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs185317944	chr7:10792788-10792789	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs573355364	chr7:10792800-10792801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs145890692	chr7:10792815-10792816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs558897021	chr7:10792836-10792837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573872926	chr7:10792846-10792847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs35202161	chr7:10792847-10792848	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs577275046	chr7:10792850-10792851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs397760555	chr7:10792855-10792856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs376261294	chr7:10792873-10792874	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs562906985	chr7:10792893-10792894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs73053307	chr7:10792928-10792929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs527538304	chr7:10793000-10793001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559645068	chr7:10793013-10793014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs571235979	chr7:10793028-10793029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs188090717	chr7:10793098-10793099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs545147823	chr7:10793103-10793104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

Disease	PMID	Source
Ovarian cancer	21720365	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	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
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Autism	22495311	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16272173	CNVD
Hirschsprung''s Disease	21712996	CNVD
Glioblastoma multiforme	22286061	CNVD
Non-small cell lung cancer	21829676	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Kartagener syndrome	16639409	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Medulloblastoma	17653508	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	19242612	CNVD
Autism	18414403	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	18194544	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:10779800-10798200	Weak transcription	K562	blood
2	chr7:10796400-10797200	Enhancers	Brain Inferior Temporal Lobe	brain
3	chr7:10796600-10797000	Enhancers	Brain Substantia Nigra	brain
4	chr7:10796800-10797200	Enhancers	Brain Cingulate Gyrus	brain
5	chr7:10796800-10797400	Enhancers	Brain Angular Gyrus	brain
6	chr7:10798200-10800200	ZNF genes & repeats	K562	blood
7	chr7:10800200-10803400	Weak transcription	K562	blood
8	chr7:10803400-10809000	Strong transcription	K562	blood
9	chr7:10807600-10808000	Enhancers	NH-A	brain

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