Variant report

Variant	esv3463669
Chromosome Location	chr3:191504726-191509020
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 161 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:161 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376814850	chr3:191504726-191504727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs554867107	chr3:191504774-191504775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540529921	chr3:191504789-191504790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs560285625	chr3:191504830-191504831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs576333610	chr3:191504861-191504862	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528925750	chr3:191504880-191504881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs191426513	chr3:191504903-191504904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs75342744	chr3:191505020-191505021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs113250280	chr3:191505026-191505027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs779277	chr3:191505163-191505164	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs148760995	chr3:191505209-191505210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs779276	chr3:191505250-191505251	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs111813594	chr3:191505254-191505255	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs183622103	chr3:191505256-191505257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs377186381	chr3:191505294-191505295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370005796	chr3:191505297-191505298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs373011440	chr3:191505302-191505303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs190639054	chr3:191505309-191505310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs556373976	chr3:191505334-191505335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569244982	chr3:191505360-191505361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs538348255	chr3:191505366-191505367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs571103768	chr3:191505382-191505383	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs809655	chr3:191505383-191505384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs533396693	chr3:191505385-191505386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs193041576	chr3:191505390-191505391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs185338911	chr3:191505426-191505427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs113061372	chr3:191505454-191505455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540491468	chr3:191505486-191505487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs554028835	chr3:191505487-191505488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs368186704	chr3:191505495-191505496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs10576522	chr3:191505529-191505530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs189919666	chr3:191505544-191505545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs398052559	chr3:191505552-191505553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs397991969	chr3:191505553-191505554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs530806174	chr3:191505554-191505555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs563106111	chr3:191505576-191505577	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs73062874	chr3:191505662-191505663	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs545109006	chr3:191505703-191505704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs181281429	chr3:191505712-191505713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs80190081	chr3:191505763-191505764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs146446675	chr3:191505896-191505897	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs139836694	chr3:191505897-191505898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs530046976	chr3:191505925-191505926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs549671766	chr3:191505974-191505975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs143153232	chr3:191505980-191505981	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs537926449	chr3:191506097-191506098	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs6803603	chr3:191506115-191506116	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs185455478	chr3:191506127-191506128	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs533912073	chr3:191506128-191506129	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs779275	chr3:191506142-191506143	ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:5 , 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

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