Variant report

Variant	esv3328603
Chromosome Location	chr6:160477822-160478391
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:160476809..160478932-chr6:160480663..160482440,2	K562	blood:
2	chr6:160400448..160401973-chr6:160477812..160480066,2	K562	blood:
3	chr6:160473015..160476167-chr6:160476466..160480337,3	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374890531	chr6:160477865-160477866	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs8191824	chr6:160477885-160477886	Strong transcription Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs539139899	chr6:160477890-160477891	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs138882202	chr6:160477907-160477908	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs149500448	chr6:160477917-160477918	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs191947822	chr6:160477923-160477924	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs144020061	chr6:160477941-160477942	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs552087212	chr6:160477965-160477966	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs575116059	chr6:160477975-160477976	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs148671206	chr6:160478004-160478005	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs183811032	chr6:160478039-160478040	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs142218487	chr6:160478070-160478071	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs544718888	chr6:160478093-160478094	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs187579270	chr6:160478103-160478104	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs190761975	chr6:160478176-160478177	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs530501508	chr6:160478200-160478201	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs544230077	chr6:160478224-160478225	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs377566125	chr6:160478253-160478254	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs530051246	chr6:160478258-160478259	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs546870860	chr6:160478260-160478261	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs560400686	chr6:160478264-160478265	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs532315219	chr6:160478281-160478282	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs552729602	chr6:160478332-160478333	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs569406561	chr6:160478343-160478344	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs113440333	chr6:160478376-160478377	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs375375510	chr6:160478386-160478387	Strong transcription Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Follicular lymphoma	20505157	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
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	17850661	CNVD
Renal cell carcinoma	18765545	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Breast cancer	20556506	CNVD
Hirschsprung''s Disease	21712996	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Developmental delay	19459884	CNVD
Hearing loss	19459884	CNVD
Microcephaly	19459884	CNVD
Coronary artery disease	17160897	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:132 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:160418600-160480400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:160444200-160490400	Weak transcription	HUVEC	blood vessel
3	chr6:160444200-160521600	Strong transcription	Primary neutrophils fromperipheralblood	blood
4	chr6:160449800-160489400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr6:160451800-160479800	Strong transcription	Fetal Intestine Small	intestine
6	chr6:160453000-160534600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr6:160455800-160532000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr6:160459200-160501200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr6:160459600-160519200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr6:160460400-160486400	Strong transcription	H9 Cell Line	embryonic stem cell
11	chr6:160460600-160500800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr6:160460800-160486800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr6:160460800-160520200	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr6:160460800-160520200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr6:160461000-160490400	Strong transcription	Duodenum Mucosa	Duodenum
16	chr6:160461000-160497400	Strong transcription	H1 Cell Line	embryonic stem cell
17	chr6:160461000-160500600	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr6:160461200-160500800	Strong transcription	HUES64 Cell Line	embryonic stem cell
19	chr6:160463800-160486400	Strong transcription	Stomach Smooth Muscle	stomach
20	chr6:160464400-160519800	Strong transcription	Lung	lung
21	chr6:160464600-160531800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr6:160465000-160478800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr6:160465200-160484200	Strong transcription	Skeletal Muscle Female	skeletal muscle
24	chr6:160465400-160479800	Strong transcription	Liver	Liver
25	chr6:160465400-160486000	Strong transcription	Adipose Nuclei	Adipose
26	chr6:160465400-160486800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr6:160465600-160530800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr6:160466000-160479200	Strong transcription	HepG2	liver
29	chr6:160466000-160521000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr6:160466200-160494800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr6:160466800-160486800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr6:160469000-160489400	Weak transcription	Hela-S3	cervix
33	chr6:160469600-160493400	Strong transcription	Fetal Muscle Trunk	muscle
34	chr6:160470400-160481000	Weak transcription	Fetal Heart	heart
35	chr6:160471000-160484400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr6:160471200-160478200	Strong transcription	Skeletal Muscle Male	skeletal muscle
37	chr6:160471600-160480800	Weak transcription	A549	lung
38	chr6:160472600-160486800	Strong transcription	Thymus	Thymus
39	chr6:160472600-160489000	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr6:160472800-160478000	Strong transcription	Fetal Thymus	thymus
41	chr6:160472800-160478800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr6:160472800-160486600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr6:160472800-160489400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr6:160472800-160489600	Strong transcription	Dnd41	blood
45	chr6:160473000-160480000	Weak transcription	Fetal Brain Male	brain
46	chr6:160473000-160484200	Weak transcription	Psoas Muscle	Psoas
47	chr6:160473200-160488000	Strong transcription	Fetal Muscle Leg	muscle
48	chr6:160474200-160478200	Strong transcription	Fetal Intestine Large	intestine
49	chr6:160474200-160486400	Strong transcription	Brain Germinal Matrix	brain
50	chr6:160474200-160486400	Strong transcription	Fetal Brain Female	brain

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