Variant report

Variant	esv3405587
Chromosome Location	chr6:102207384-102209557
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 93 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:93 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571686542	chr6:102207397-102207398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs372851741	chr6:102207452-102207453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs374058073	chr6:102207461-102207462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs147109926	chr6:102207490-102207491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs73761411	chr6:102207544-102207545	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs73761412	chr6:102207556-102207557	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs536442626	chr6:102207601-102207602	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs7760353	chr6:102207604-102207605	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs11320536	chr6:102207677-102207678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs187609330	chr6:102207685-102207686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533903196	chr6:102207710-102207711	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs558101593	chr6:102207725-102207726	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs28604592	chr6:102207733-102207734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs28436892	chr6:102207734-102207735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs11320535	chr6:102207735-102207736	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs201554586	chr6:102207741-102207742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs199722050	chr6:102207742-102207743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs368163336	chr6:102207743-102207744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs200300257	chr6:102207746-102207747	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs201511946	chr6:102207750-102207751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs199504485	chr6:102207752-102207753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs28757883	chr6:102207758-102207759	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs57510275	chr6:102207759-102207760	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs67185977	chr6:102207760-102207761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs564455201	chr6:102207772-102207773	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs375755224	chr6:102207831-102207832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs61698221	chr6:102207833-102207834	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs60002809	chr6:102207836-102207837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs9390778	chr6:102207837-102207838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs537217869	chr6:102207901-102207902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs562435618	chr6:102207908-102207909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs574441466	chr6:102207936-102207937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541641297	chr6:102207954-102207955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs560308519	chr6:102207981-102207982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189897655	chr6:102208036-102208037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs9404141	chr6:102208050-102208051	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs576561972	chr6:102208073-102208074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs569477722	chr6:102208222-102208223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182179889	chr6:102208239-102208240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs9404142	chr6:102208316-102208317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs185433017	chr6:102208361-102208362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs189948078	chr6:102208373-102208374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs181213772	chr6:102208385-102208386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs113003990	chr6:102208448-102208449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs184973322	chr6:102208457-102208458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs113210133	chr6:102208483-102208484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs112863436	chr6:102208484-102208485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs191097142	chr6:102208509-102208510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs569548699	chr6:102208511-102208512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs111500749	chr6:102208513-102208514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:110)

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
Endometrioid adenocarcinoma	16974079	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
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	17443227	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
Leukemia	18688285	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
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	17640729	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
Chronic lymphocytic leukemia	20421269	CNVD
small cell lung cancer	20016488	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17170743	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21785460	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Myelofibrosis	22110671	CNVD
Obesity	21045960	CNVD
Liver carcinoma	19366792	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Urothelial carcinoma	21177765	CNVD
Autism	22543975	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:102201200-102208800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr6:102206600-102208800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr6:102207000-102207600	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr6:102207200-102207400	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr6:102207200-102207400	Enhancers	Pancreatic Islets	Pancreatic Islet
6	chr6:102207200-102207600	Enhancers	H9 Cell Line	embryonic stem cell
7	chr6:102207200-102207600	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr6:102207200-102207600	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr6:102207200-102207600	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr6:102207200-102208600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr6:102207400-102210800	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr6:102207400-102217800	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr6:102207600-102208800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr6:102207600-102209000	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr6:102207600-102210800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr6:102207600-102212200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr6:102207600-102212800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr6:102208600-102208800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr6:102208600-102208800	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr6:102208600-102211800	Enhancers	Liver	Liver
21	chr6:102208800-102209000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr6:102208800-102209200	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr6:102208800-102209200	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr6:102208800-102209200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr6:102208800-102209200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr6:102208800-102209200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr6:102208800-102209200	Enhancers	Adipose Nuclei	Adipose
28	chr6:102208800-102209200	Enhancers	NHLF	lung
29	chr6:102208800-102209200	Enhancers	Osteobl	bone
30	chr6:102208800-102209400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr6:102208800-102209400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr6:102208800-102209400	Enhancers	Fetal Heart	heart
33	chr6:102208800-102209400	Enhancers	HMEC	breast
34	chr6:102208800-102209400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chr6:102208800-102209600	Enhancers	Hela-S3	cervix
36	chr6:102208800-102209800	Enhancers	NHEK	skin
37	chr6:102208800-102211000	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr6:102209000-102209200	Enhancers	H1 Cell Line	embryonic stem cell
39	chr6:102209000-102209200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr6:102209000-102209200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr6:102209000-102209200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr6:102209000-102209200	Enhancers	Muscle Satellite Cultured Cells	--
43	chr6:102209000-102209400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr6:102209000-102209400	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr6:102209000-102209600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr6:102209200-102209400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr6:102209200-102210000	Weak transcription	Adipose Nuclei	Adipose
48	chr6:102209200-102210200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr6:102209200-102210400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr6:102209200-102213000	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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