Variant report

Variant	esv3393697
Chromosome Location	chr7:7451877-7453082
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	chr7:7446277..7450841-chr7:7451007..7455027,4	K562	blood:
2	chr7:7445984..7447777-chr7:7451084..7453972,2	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:49 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547230908	chr7:7451923-7451924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs565549646	chr7:7451963-7451964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs10248825	chr7:7451970-7451971	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs190568470	chr7:7451999-7452000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs561837593	chr7:7452024-7452025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs577137405	chr7:7452031-7452032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529098733	chr7:7452063-7452064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs183153078	chr7:7452069-7452070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs187773234	chr7:7452081-7452082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs144659041	chr7:7452152-7452153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs532058250	chr7:7452163-7452164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs560625871	chr7:7452211-7452212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs572678814	chr7:7452240-7452241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs148535513	chr7:7452246-7452247	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs564639695	chr7:7452251-7452252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs13227277	chr7:7452254-7452255	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs549557714	chr7:7452259-7452260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs145447980	chr7:7452262-7452263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs528915797	chr7:7452379-7452380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs547094162	chr7:7452391-7452392	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs369345411	chr7:7452400-7452401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs191125335	chr7:7452430-7452431	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs1024714	chr7:7452441-7452442	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs112582322	chr7:7452496-7452497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs569882568	chr7:7452516-7452517	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113770631	chr7:7452536-7452537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs73674533	chr7:7452545-7452546	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs556632455	chr7:7452575-7452576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs574893768	chr7:7452591-7452592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187964998	chr7:7452614-7452615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs192968108	chr7:7452625-7452626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs1024715	chr7:7452626-7452627	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs112426643	chr7:7452703-7452704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs546114004	chr7:7452727-7452728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs564779607	chr7:7452750-7452751	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs147204068	chr7:7452758-7452759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs75625495	chr7:7452769-7452770	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs561302681	chr7:7452774-7452775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs528880570	chr7:7452805-7452806	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs13230547	chr7:7452822-7452823	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs559058678	chr7:7452838-7452839	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs60605784	chr7:7452889-7452890	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs34385622	chr7:7452917-7452918	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs185102136	chr7:7452921-7452922	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs187400460	chr7:7452972-7452973	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs140493330	chr7:7452974-7452975	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs549299533	chr7:7452996-7452997	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs568435611	chr7:7453031-7453032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs537036853	chr7:7453039-7453040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	22237106	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
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7447800-7463800	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr7:7447800-7464200	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr7:7448000-7452800	Weak transcription	Colonic Mucosa	Colon
4	chr7:7448800-7455000	Weak transcription	Stomach Mucosa	stomach
5	chr7:7449800-7453800	Weak transcription	Duodenum Mucosa	Duodenum
6	chr7:7450200-7452600	Weak transcription	Fetal Intestine Large	intestine
7	chr7:7450200-7452800	Weak transcription	Fetal Intestine Small	intestine
8	chr7:7450200-7453800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr7:7451200-7453600	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr7:7451200-7464000	Weak transcription	Gastric	stomach
11	chr7:7451600-7454000	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr7:7452600-7456400	Enhancers	Fetal Intestine Large	intestine
13	chr7:7452800-7453000	Enhancers	Colonic Mucosa	Colon
14	chr7:7452800-7457000	Enhancers	Fetal Intestine Small	intestine
15	chr7:7453000-7454000	Weak transcription	Colonic Mucosa	Colon

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