Variant report

Variant	esv3349182
Chromosome Location	chr7:13510761-13535910
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	chr7:13486434..13489093-chr7:13519344..13521855,2	K562	blood:

Extended variants
information (count: 119 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:119 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560603066	chr7:13512011-13512012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs143078426	chr7:13512018-13512019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs2723453	chr7:13512089-13512090	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs73261143	chr7:13512108-13512109	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs371517785	chr7:13512123-13512124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs531794559	chr7:13512142-13512143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs547950582	chr7:13512171-13512172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs568165453	chr7:13512180-13512181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs533531367	chr7:13512188-13512189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs4719367	chr7:13512193-13512194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs553222367	chr7:13512211-13512212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs550234737	chr7:13512247-13512248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs77355207	chr7:13512252-13512253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs570644171	chr7:13512298-13512299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs539703434	chr7:13512308-13512309	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs146163400	chr7:13512346-13512347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs576275941	chr7:13512363-13512364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs57780365	chr7:13512368-13512369	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs10235896	chr7:13512370-13512371	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs201060734	chr7:13512371-13512372	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs78197047	chr7:13512381-13512382	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs2723452	chr7:13512600-13512601	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs375127440	chr7:13512609-13512610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs555788602	chr7:13512628-13512629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs566223897	chr7:13512702-13512703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs113240315	chr7:13512722-13512723	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs184607101	chr7:13512731-13512732	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs10265877	chr7:13512776-13512777	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs199963833	chr7:13512820-13512821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201068965	chr7:13512826-13512827	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs201072715	chr7:13512827-13512828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs113717567	chr7:13512828-13512829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs561622820	chr7:13512860-13512861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs527419044	chr7:13512862-13512863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs2723451	chr7:13512864-13512865	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs142395695	chr7:13512874-13512875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs189075089	chr7:13512875-13512876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs73261147	chr7:13512879-13512880	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs569999012	chr7:13512958-13512959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs74721945	chr7:13512963-13512964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555585073	chr7:13513068-13513069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs7777457	chr7:13513102-13513103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs534259022	chr7:13513155-13513156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs150525202	chr7:13513183-13513184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs117071603	chr7:13513236-13513237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs545811230	chr7:13513258-13513259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs13233056	chr7:13513262-13513263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs139516816	chr7:13513271-13513272	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs116900003	chr7:13513282-13513283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs559351106	chr7:13513323-13513324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Acute myeloid leukemia	21251322	CNVD
Melanoma	17363583	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
Cancer	21637783	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16397240	CNVD
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
Myelofibrosis	22110671	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:13512000-13512400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr7:13512600-13513600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr7:13516000-13516400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr7:13529000-13529600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:13535800-13537400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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