Variant report

Variant	esv1846786
Chromosome Location	chr6:93166766-93190634
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 300 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:300 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12524154	chr6:93166766-93166767	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs564038503	chr6:93166820-93166821	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs1946406	chr6:93166870-93166871	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs552420859	chr6:93166872-93166873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs559332579	chr6:93166898-93166899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs1365706	chr6:93166954-93166955	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs548323633	chr6:93166968-93166969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs190210899	chr6:93167024-93167025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs181137282	chr6:93167025-93167026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs549686093	chr6:93167040-93167041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs377471600	chr6:93167052-93167053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs569802211	chr6:93167053-93167054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs140329110	chr6:93167057-93167058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs186246312	chr6:93167114-93167115	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs1863660	chr6:93167170-93167171	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs11964782	chr6:93167176-93167177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs2875634	chr6:93167215-93167216	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs74956244	chr6:93167216-93167217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs560677809	chr6:93167221-93167222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs534597692	chr6:93167265-93167266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs1863659	chr6:93167380-93167381	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs190768054	chr6:93167434-93167435	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs574433489	chr6:93167439-93167440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs145490646	chr6:93167505-93167506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs563747188	chr6:93167526-93167527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs71736087	chr6:93167537-93167538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112766149	chr6:93167553-93167554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs370658807	chr6:93167556-93167557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs577327946	chr6:93167557-93167558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs113356616	chr6:93167571-93167572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs536963912	chr6:93167582-93167583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs559617675	chr6:93167589-93167590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs73754488	chr6:93167621-93167622	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs548164099	chr6:93167624-93167625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs184053838	chr6:93167743-93167744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs140508368	chr6:93167748-93167749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2555762	chr6:93167753-93167754	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs188603973	chr6:93167859-93167860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs371144779	chr6:93167901-93167902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs567151974	chr6:93167906-93167907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs376835863	chr6:93168008-93168009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs569758369	chr6:93168021-93168022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs538789731	chr6:93168046-93168047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs146234368	chr6:93168054-93168055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs371446823	chr6:93168056-93168057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs201535081	chr6:93168068-93168069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs201862520	chr6:93168069-93168070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs199734347	chr6:93168070-93168071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs144440675	chr6:93168071-93168072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs370951141	chr6:93168072-93168073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
Prostate cancer	16573809	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
Breast cancer	17133270	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
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	21364760	CNVD
Developmental delay	19490664	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Adrenocortical carcinoma	18281524	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Neuropathy	19664229	CNVD
Neurodevelopmental disorder	22521361	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Basal cell lymphoma	17170743	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:93165200-93170200	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr6:93169400-93169800	Enhancers	HUVEC	blood vessel
3	chr6:93169400-93170200	Enhancers	HSMMtube	muscle
4	chr6:93169400-93171200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr6:93170000-93170400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr6:93170000-93170800	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr6:93170200-93171000	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr6:93170200-93171000	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr6:93170200-93171200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr6:93173000-93173400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr6:93182200-93182600	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr6:93182200-93182800	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr6:93182400-93182800	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr6:93182400-93182800	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr6:93182400-93182800	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr6:93182800-93183600	Enhancers	HUVEC	blood vessel
17	chr6:93189400-93190200	Enhancers	HUVEC	blood vessel
18	chr6:93189600-93190000	Enhancers	Fetal Heart	heart
19	chr6:93190000-93191400	Weak transcription	Fetal Heart	heart

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