Variant report

Variant	esv3370614
Chromosome Location	chr6:165424662-165428860
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 163 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:163 , 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	rs561398881	chr6:165424666-165424667	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs78874366	chr6:165424699-165424700	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs192559197	chr6:165424712-165424713	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs147538703	chr6:165424738-165424739	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs533010905	chr6:165424803-165424804	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs77788088	chr6:165424824-165424825	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184515775	chr6:165424880-165424881	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs541611544	chr6:165424886-165424887	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533732921	chr6:165425025-165425026	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs555462985	chr6:165425141-165425142	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs1322203	chr6:165425145-165425146	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs7760567	chr6:165425158-165425159	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs556101261	chr6:165425175-165425176	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs1322202	chr6:165425181-165425182	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs1322201	chr6:165425189-165425190	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs546855510	chr6:165425224-165425225	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs571843692	chr6:165425233-165425234	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539150801	chr6:165425269-165425270	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs553958040	chr6:165425300-165425301	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572528610	chr6:165425302-165425303	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs1322200	chr6:165425309-165425310	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs76900432	chr6:165425316-165425317	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs202234033	chr6:165425322-165425323	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs576768438	chr6:165425330-165425331	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs2146031	chr6:165425338-165425339	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs561940705	chr6:165425339-165425340	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs140054516	chr6:165425394-165425395	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369180319	chr6:165425395-165425396	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs77290484	chr6:165425436-165425437	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs551430988	chr6:165425452-165425453	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs9459280	chr6:165425457-165425458	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs527428901	chr6:165425460-165425461	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs548896291	chr6:165425470-165425471	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs1322199	chr6:165425517-165425518	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs145530425	chr6:165425519-165425520	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs539656114	chr6:165425539-165425540	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs574004140	chr6:165425558-165425559	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs151098758	chr6:165425634-165425635	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs78830648	chr6:165425653-165425654	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs374255999	chr6:165425659-165425660	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs80158773	chr6:165425683-165425684	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs77394391	chr6:165425728-165425729	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs142195015	chr6:165425737-165425738	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs190634994	chr6:165425742-165425743	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554816884	chr6:165425750-165425751	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs555412324	chr6:165425757-165425758	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs576731548	chr6:165425822-165425823	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs544092969	chr6:165425825-165425826	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552884581	chr6:165425839-165425840	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs139765347	chr6:165425863-165425864	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
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
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
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	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
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
Chordoma	18071362	CNVD
Glioblastoma multiforme	19435819	CNVD
Ovarian cancer	21720365	CNVD
Glioblastoma multiforme	21138945	CNVD
abnormal development	18461090	CNVD
Epilepsy	22083797	CNVD
Myelofibrosis	22110671	CNVD
chordoma	19801981	CNVD
Myxofibrosarcoma	16751306	CNVD
Autism	17483303	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Acute myeloid leukemia	19651601	CNVD
Sudden cardiac death	19188705	CNVD
Myofibroblastic sarcoma	19369631	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:165422200-165425600	Enhancers	HSMM	muscle
2	chr6:165422400-165425800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr6:165422800-165426800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr6:165423200-165425400	Enhancers	Fetal Heart	heart
5	chr6:165423400-165425400	Enhancers	NH-A	brain
6	chr6:165423600-165425800	Enhancers	Placenta Amnion	Placenta Amnion
7	chr6:165423800-165425200	Enhancers	Muscle Satellite Cultured Cells	--
8	chr6:165424000-165424800	Enhancers	Fetal Kidney	kidney
9	chr6:165424000-165425600	Enhancers	Osteobl	bone
10	chr6:165424200-165424800	Enhancers	H1 Cell Line	embryonic stem cell
11	chr6:165424200-165424800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr6:165424200-165425000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr6:165424200-165425000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr6:165424200-165425200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr6:165424200-165425400	Enhancers	Placenta	Placenta
16	chr6:165424400-165424800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr6:165424400-165425000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr6:165424400-165425600	Enhancers	HSMMtube	muscle
19	chr6:165424800-165426200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr6:165424800-165426600	Weak transcription	Fetal Kidney	kidney
21	chr6:165425000-165427400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr6:165425000-165427600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr6:165425200-165426600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr6:165425400-165426600	Weak transcription	Fetal Heart	heart
25	chr6:165425400-165427200	Weak transcription	NH-A	brain
26	chr6:165425600-165426600	Weak transcription	HSMM	muscle
27	chr6:165425600-165426600	Weak transcription	HSMMtube	muscle
28	chr6:165425800-165426600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr6:165426200-165426600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr6:165426600-165426800	ZNF genes & repeats	Fetal Kidney	kidney
31	chr6:165426600-165427000	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr6:165426600-165427000	Enhancers	Fetal Heart	heart
33	chr6:165426600-165427800	Enhancers	HSMMtube	muscle
34	chr6:165426600-165428000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr6:165426600-165428000	Enhancers	HSMM	muscle
36	chr6:165426600-165428600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr6:165426800-165427000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr6:165426800-165427800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr6:165427200-165427600	Enhancers	NH-A	brain
40	chr6:165427400-165427600	Enhancers	Placenta Amnion	Placenta Amnion
41	chr6:165427400-165429800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr6:165427600-165428000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr6:165428000-165428800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr6:165428800-165429000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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