Variant report

Variant	esv1810731
Chromosome Location	chr3:191505895-191512568
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 239 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:239 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146446675	chr3:191505896-191505897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs139836694	chr3:191505897-191505898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs530046976	chr3:191505925-191505926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs549671766	chr3:191505974-191505975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs143153232	chr3:191505980-191505981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs537926449	chr3:191506097-191506098	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs6803603	chr3:191506115-191506116	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs185455478	chr3:191506127-191506128	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs533912073	chr3:191506128-191506129	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs779275	chr3:191506142-191506143	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs6803696	chr3:191506171-191506172	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs570371480	chr3:191506173-191506174	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs149448113	chr3:191506176-191506177	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs779274	chr3:191506188-191506189	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs73062877	chr3:191506253-191506254	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs539249121	chr3:191506309-191506310	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs112077176	chr3:191506323-191506324	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs545305032	chr3:191506356-191506357	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs564948477	chr3:191506411-191506412	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs34208553	chr3:191506462-191506463	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs779273	chr3:191506526-191506527	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs146652123	chr3:191506533-191506534	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs552744374	chr3:191506535-191506536	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs59027851	chr3:191506553-191506554	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs550072686	chr3:191506567-191506568	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs577832652	chr3:191506584-191506585	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs563305783	chr3:191506600-191506601	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs543272212	chr3:191506660-191506661	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs76079861	chr3:191506676-191506677	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs55896521	chr3:191506690-191506691	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs571404392	chr3:191506692-191506693	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs77486995	chr3:191506703-191506704	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs779272	chr3:191506748-191506749	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs567671428	chr3:191506766-191506767	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs536509435	chr3:191506851-191506852	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs368245079	chr3:191506866-191506867	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs556799302	chr3:191506868-191506869	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs188312450	chr3:191506897-191506898	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs180877041	chr3:191506909-191506910	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs779271	chr3:191506947-191506948	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs185769186	chr3:191506957-191506958	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs541133012	chr3:191506976-191506977	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs560842251	chr3:191506984-191506985	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs574390962	chr3:191507016-191507017	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs543086254	chr3:191507018-191507019	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs192387298	chr3:191507020-191507021	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs532350205	chr3:191507048-191507049	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs140406496	chr3:191507058-191507059	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs10154844	chr3:191507060-191507061	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs150367893	chr3:191507078-191507079	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	16608533	CNVD
Acute myeloid leukemia	20729466	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Parkinson disease	21907011	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	16751803	CNVD
abnormal development	18461090	CNVD
Autism	19653912	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164920	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cervical cancer	21062161	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Austim spectrum disorder	21302340	CNVD
Lung cancer	19547694	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Myelofibrosis	22110671	CNVD
Optic atrophy	21457585	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	20864512	CNVD
Non-small cell lung cancer	21829676	CNVD
Adenocarcinoma	19607727	CNVD
Squamous cell cancer	19607727	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	16397240	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:191502200-191506000	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr3:191505800-191506400	Enhancers	Stomach Mucosa	stomach
3	chr3:191506000-191510800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
4	chr3:191508000-191510000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr3:191508400-191509000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr3:191510000-191511400	Enhancers	HUVEC	blood vessel
7	chr3:191511600-191511800	Enhancers	Liver	Liver
8	chr3:191511800-191512800	Weak transcription	Liver	Liver
9	chr3:191511800-191523200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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