Variant report

Variant	esv3407763
Chromosome Location	chr7:3007326-3012224
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 293 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:293 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145839038	chr7:3007346-3007347	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs561790608	chr7:3007381-3007382	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs7782108	chr7:3007382-3007383	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs7795713	chr7:3007393-3007394	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs564299744	chr7:3007408-3007409	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs7794674	chr7:3007419-3007420	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs546850948	chr7:3007451-3007452	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs565975015	chr7:3007471-3007472	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs115370248	chr7:3007489-3007490	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs367698697	chr7:3007551-3007552	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs562271516	chr7:3007554-3007555	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs148557589	chr7:3007560-3007561	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs537106500	chr7:3007589-3007590	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs557311630	chr7:3007628-3007629	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs71550378	chr7:3007656-3007657	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs80268941	chr7:3007658-3007659	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs571018139	chr7:3007659-3007660	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs539768997	chr7:3007679-3007680	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs7778728	chr7:3007684-3007685	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs573550689	chr7:3007699-3007700	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs370817005	chr7:3007707-3007708	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs34031528	chr7:3007814-3007815	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs555363533	chr7:3007850-3007851	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs577590966	chr7:3007858-3007859	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs139199542	chr7:3007862-3007863	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs544292158	chr7:3007863-3007864	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs532034415	chr7:3007864-3007865	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs375961946	chr7:3007865-3007866	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs529750678	chr7:3007866-3007867	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs116312273	chr7:3007924-3007925	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs145168520	chr7:3007962-3007963	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs540020666	chr7:3007978-3007979	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs375998966	chr7:3007985-3007986	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs560036094	chr7:3007988-3007989	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs147582797	chr7:3007996-3007997	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs548186397	chr7:3008000-3008001	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs56822504	chr7:3008019-3008020	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs58265910	chr7:3008022-3008023	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs145730782	chr7:3008025-3008026	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs570988869	chr7:3008031-3008032	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs183558758	chr7:3008051-3008052	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs79470822	chr7:3008060-3008061	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs73287235	chr7:3008065-3008066	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs569622468	chr7:3008095-3008096	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs555451541	chr7:3008104-3008105	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs188123668	chr7:3008105-3008106	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs140350045	chr7:3008109-3008110	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs550974490	chr7:3008155-3008156	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs190327998	chr7:3008182-3008183	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs531546480	chr7:3008194-3008195	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Chordoma	21602918	CNVD
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	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
Developmental delay	21147756	CNVD
Prostate cancer	18632612	CNVD
Urothelial carcinoma	21177765	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Nasopharyngeal cancer	20548289	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
Spondylocostal dysostosis	21085971	CNVD
Mental retardation	17901693	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	22286061	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3005000-3008200	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
2	chr7:3005200-3007600	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
3	chr7:3005200-3008600	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
4	chr7:3005400-3007600	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
5	chr7:3005400-3008400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
6	chr7:3006200-3011200	Strong transcription	Primary B cells from cord blood	blood
7	chr7:3006200-3011200	Strong transcription	Primary T cells from cord blood	blood
8	chr7:3006200-3011800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr7:3006400-3007600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
10	chr7:3006400-3008400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr7:3006400-3008800	Weak transcription	Duodenum Mucosa	Duodenum
12	chr7:3006400-3010000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr7:3006400-3011600	Weak transcription	Primary hematopoietic stem cells	blood
14	chr7:3006600-3008000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr7:3006600-3008800	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr7:3006600-3013000	Weak transcription	Spleen	Spleen
17	chr7:3006800-3007600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr7:3006800-3011800	Weak transcription	Thymus	Thymus
19	chr7:3007200-3008000	Weak transcription	Primary B cells from peripheral blood	blood
20	chr7:3007200-3018000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr7:3007200-3018200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr7:3007200-3018200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr7:3007600-3007800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr7:3007600-3008800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr7:3007600-3009400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr7:3007600-3010000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr7:3007800-3008400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr7:3008000-3008800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr7:3008000-3009000	Strong transcription	Primary B cells from peripheral blood	blood
30	chr7:3008200-3009800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr7:3008400-3010600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr7:3008400-3011800	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr7:3008400-3011800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr7:3008600-3011600	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr7:3008800-3010000	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
36	chr7:3008800-3010600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr7:3008800-3012600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr7:3009000-3009200	Enhancers	Gastric	stomach
39	chr7:3009000-3009800	Weak transcription	Primary B cells from peripheral blood	blood
40	chr7:3009000-3011000	Weak transcription	GM12878-XiMat	blood
41	chr7:3009400-3010800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr7:3009600-3009800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr7:3009800-3010200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr7:3009800-3010400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr7:3009800-3012600	Enhancers	Primary B cells from peripheral blood	blood
46	chr7:3010000-3010200	Weak transcription	Duodenum Mucosa	Duodenum
47	chr7:3010000-3010400	Enhancers	Primary T helper naive cells from peripheral blood	blood
48	chr7:3010000-3010800	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr7:3010000-3013400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr7:3010200-3011000	Enhancers	Cortex derived primary cultured neurospheres	brain

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