Variant report

Variant	esv2763594
Chromosome Location	chr6:118115781-118134510
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 822 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:822 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571523387	chr6:118115827-118115828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs538413414	chr6:118115852-118115853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs1476048	chr6:118115893-118115894	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs138611314	chr6:118115907-118115908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565405707	chr6:118115928-118115929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs17334090	chr6:118115943-118115944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554127039	chr6:118115949-118115950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs546353128	chr6:118115963-118115964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs531993595	chr6:118116036-118116037	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs11416780	chr6:118116105-118116106	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs575672577	chr6:118116128-118116129	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs564457572	chr6:118116131-118116132	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs576143311	chr6:118116141-118116142	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538144438	chr6:118116171-118116172	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs9688556	chr6:118116192-118116193	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs578209015	chr6:118116277-118116278	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs561749376	chr6:118116285-118116286	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs529211248	chr6:118116293-118116294	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs181138918	chr6:118116297-118116298	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs73513395	chr6:118116302-118116303	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs547417254	chr6:118116347-118116348	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs572556483	chr6:118116371-118116372	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543187642	chr6:118116375-118116376	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs375657433	chr6:118116426-118116427	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs538649777	chr6:118116438-118116439	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs185579473	chr6:118116440-118116441	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs373484695	chr6:118116444-118116445	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs571637320	chr6:118116456-118116457	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs1518358	chr6:118116482-118116483	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
30	rs547844049	chr6:118116539-118116540	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs543810797	chr6:118116563-118116564	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs572130997	chr6:118116615-118116616	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs564996782	chr6:118116686-118116687	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs532456493	chr6:118116705-118116706	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs566154108	chr6:118116740-118116741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs547250429	chr6:118116813-118116814	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs601136	chr6:118116823-118116824	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
38	rs146150723	chr6:118116865-118116866	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs73513398	chr6:118116897-118116898	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs569413493	chr6:118116925-118116926	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs112284941	chr6:118116936-118116937	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs371680059	chr6:118116980-118116981	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540845031	chr6:118116983-118116984	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs571826315	chr6:118116994-118116995	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539355140	chr6:118117031-118117032	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs189968210	chr6:118117066-118117067	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs572726283	chr6:118117103-118117104	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs569835602	chr6:118117104-118117105	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs555062961	chr6:118117105-118117106	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs1518357	chr6:118117141-118117142	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:111)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Gastric cancer	17908304	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
T-cell lymphomas	19863542	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	19242612	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Mental retardation	17621639	CNVD
Hypoplastic	20877625	CNVD
Hypotonia	20877625	CNVD
Mental retardation	20877625	CNVD
Microcephaly	20877625	CNVD
brachycephaly	20877625	CNVD
epicanthic folds	20877625	CNVD
micrognathia	20877625	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Salivary gland tumor	18059337	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Metastatic melanoma	18483359	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:118114600-118133000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:118114800-118116800	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr6:118116000-118116800	Enhancers	iPS-20b Cell Line	embryonic stem cell
4	chr6:118116000-118117800	Enhancers	H1 Cell Line	embryonic stem cell
5	chr6:118116200-118117200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr6:118116200-118117600	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr6:118116200-118117800	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr6:118116200-118118000	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr6:118116200-118118000	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr6:118116400-118117200	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr6:118116400-118117600	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr6:118116600-118117600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr6:118116800-118117000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr6:118116800-118117400	Enhancers	H9 Cell Line	embryonic stem cell
15	chr6:118116800-118117600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:118116800-118117600	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr6:118117000-118117200	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr6:118117200-118117400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr6:118117200-118117600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr6:118117400-118118400	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr6:118117600-118118200	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr6:118132000-118132800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr6:118132800-118133000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr6:118132800-118133000	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr6:118133000-118133200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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