Variant report

Variant	esv3387367
Chromosome Location	chr7:11982761-12005609
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 711 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:711 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs77826950	chr7:11989224-11989225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs151262559	chr7:11989231-11989232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs139259506	chr7:11989236-11989237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560708039	chr7:11989247-11989248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs529828830	chr7:11989270-11989271	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs7796388	chr7:11989271-11989272	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs7779211	chr7:11989290-11989291	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs532250018	chr7:11989301-11989302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs7799871	chr7:11989372-11989373	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs568838492	chr7:11989398-11989399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs116301853	chr7:11989406-11989407	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs149981336	chr7:11989425-11989426	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs191736602	chr7:11989452-11989453	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs7800268	chr7:11989470-11989471	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs7800415	chr7:11989554-11989555	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs4637708	chr7:11989555-11989556	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs7800416	chr7:11989556-11989557	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs556233916	chr7:11989570-11989571	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs576393948	chr7:11989575-11989576	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs111839054	chr7:11989675-11989676	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs575075622	chr7:11989707-11989708	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs145142846	chr7:11989708-11989709	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs554439423	chr7:11989711-11989712	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs574427048	chr7:11989724-11989725	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs544493411	chr7:11989725-11989726	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs73285074	chr7:11989748-11989749	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs560318414	chr7:11989756-11989757	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs532064281	chr7:11989767-11989768	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs73285075	chr7:11989791-11989792	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs562486476	chr7:11989799-11989800	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs531331305	chr7:11989807-11989808	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs548237454	chr7:11989827-11989828	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs568752368	chr7:11989829-11989830	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs528005373	chr7:11989855-11989856	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs4568516	chr7:11989864-11989865	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs4373426	chr7:11989874-11989875	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs145102347	chr7:11989876-11989877	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs73285077	chr7:11989888-11989889	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs73285079	chr7:11989911-11989912	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs73285081	chr7:11989932-11989933	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs535433639	chr7:11989939-11989940	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs555358348	chr7:11990004-11990005	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs13223640	chr7:11990058-11990059	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs149106246	chr7:11990099-11990100	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs540139948	chr7:11990125-11990126	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs62433180	chr7:11990128-11990129	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs553646352	chr7:11990142-11990143	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs576961544	chr7:11990145-11990146	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs368455102	chr7:11990152-11990153	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs146022186	chr7:11990200-11990201	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
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
Autism	22495309	CNVD
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Glioblastoma multiforme	17002787	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Multiple myeloma	17550852	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11989200-11989800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:11989400-11989600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:11989400-11989600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:11989400-11989600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:11989400-11989800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr7:11989400-11990200	ZNF genes & repeats	Pancreas	Pancrea
7	chr7:11989600-11997200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr7:11989800-11990000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:11989800-11990600	Enhancers	Placenta	Placenta
10	chr7:11989800-11991200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr7:11990400-11990800	Weak transcription	Pancreas	Pancrea
12	chr7:11990400-11991000	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr7:11991000-11991400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr7:11991400-11991800	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr7:11995600-11997200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr7:11997200-11997400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
17	chr7:11997400-11997600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr7:11997400-12009400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr7:11997600-11997800	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr7:11997600-11997800	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr7:11997800-11998400	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr7:11997800-11998400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr7:11998000-11999000	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr7:11998400-11998600	Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr7:11998400-11998800	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr7:11998400-11999200	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr7:11998600-11998800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr7:11998600-12000400	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr7:11998800-11999000	Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr7:11998800-11999600	Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr7:11998800-11999800	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr7:11999000-11999200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr7:11999000-11999400	Active TSS	HUES6 Cell Line	embryonic stem cell
34	chr7:11999200-12000800	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr7:11999400-11999600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
36	chr7:11999600-11999800	Enhancers	HUES6 Cell Line	embryonic stem cell

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