Variant report

Variant	esv3396982
Chromosome Location	chr6:120900302-120916167
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 419 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:419 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114596097	chr6:120905264-120905265	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs560142447	chr6:120905282-120905283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs140151930	chr6:120905358-120905359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs187732047	chr6:120905359-120905360	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs532126585	chr6:120905404-120905405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs111816252	chr6:120905415-120905416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs374042625	chr6:120905476-120905477	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs189862956	chr6:120905487-120905488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs528979498	chr6:120905534-120905535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs367729325	chr6:120905548-120905549	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs182170906	chr6:120905579-120905580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs375904725	chr6:120905588-120905589	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs188044864	chr6:120905592-120905593	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs111725881	chr6:120905637-120905638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs373042411	chr6:120905638-120905639	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs552074878	chr6:120905648-120905649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs571947120	chr6:120905664-120905665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs79793482	chr6:120905678-120905679	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs150325136	chr6:120905680-120905681	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs556329183	chr6:120905726-120905727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs147719432	chr6:120905727-120905728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs192868240	chr6:120905760-120905761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs376032924	chr6:120905802-120905803	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185353344	chr6:120905843-120905844	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs537767842	chr6:120905853-120905854	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs557667534	chr6:120905859-120905860	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs9490005	chr6:120905863-120905864	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs577509286	chr6:120905883-120905884	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs540271256	chr6:120905884-120905885	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs564032333	chr6:120905885-120905886	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs188616869	chr6:120905904-120905905	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs559848541	chr6:120905983-120905984	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs142580975	chr6:120905989-120905990	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs542323333	chr6:120906052-120906053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs530971725	chr6:120906055-120906056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs563120260	chr6:120906061-120906062	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs531969046	chr6:120906070-120906071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs191913208	chr6:120906117-120906118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs565618180	chr6:120906148-120906149	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs527986832	chr6:120906206-120906207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs531558722	chr6:120906218-120906219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs552795027	chr6:120906232-120906233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs547770860	chr6:120906309-120906310	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs184712200	chr6:120906345-120906346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs189211185	chr6:120906376-120906377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs549976976	chr6:120906387-120906388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs569801714	chr6:120906405-120906406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs180886140	chr6:120906450-120906451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs184396104	chr6:120906523-120906524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs548358780	chr6:120906535-120906536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

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
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	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
Metastatic melanoma	18483359	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	18698023	CNVD
Mental retardation	18854857	CNVD
Leukemia	18688285	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Liver carcinoma	19366792	CNVD
Breast cancer	21611746	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:120905200-120905600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr6:120905200-120905800	Enhancers	iPS-15b Cell Line	embryonic stem cell
3	chr6:120905200-120906200	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr6:120905400-120905800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr6:120905400-120905800	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr6:120905400-120906000	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr6:120905400-120906000	Enhancers	H1 Cell Line	embryonic stem cell
8	chr6:120905400-120906000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr6:120905400-120906000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr6:120905400-120906000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr6:120905600-120906000	Enhancers	H9 Cell Line	embryonic stem cell
12	chr6:120905600-120909800	Enhancers	Brain Germinal Matrix	brain
13	chr6:120905800-120908200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr6:120908200-120908400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr6:120909000-120910000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr6:120909800-120912000	Weak transcription	Brain Germinal Matrix	brain
17	chr6:120910000-120915400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr6:120911000-120912600	Enhancers	Fetal Brain Female	brain
19	chr6:120911400-120911600	Enhancers	Fetal Brain Male	brain
20	chr6:120911600-120912400	Weak transcription	Fetal Brain Male	brain
21	chr6:120912000-120913200	Enhancers	Brain Germinal Matrix	brain
22	chr6:120912400-120913600	Enhancers	Fetal Brain Male	brain
23	chr6:120912600-120915200	Weak transcription	Fetal Brain Female	brain
24	chr6:120913200-120914200	Weak transcription	Brain Germinal Matrix	brain
25	chr6:120914200-120914400	Enhancers	Brain Germinal Matrix	brain
26	chr6:120915200-120915400	Enhancers	Fetal Brain Female	brain
27	chr6:120915400-120917400	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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