Variant report

Variant	esv3422901
Chromosome Location	chr6:64397793-64398841
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:64347461..64349165-chr6:64396342..64398673,2	K562	blood:
2	chr6:64282160..64284462-chr6:64395012..64398209,3	MCF-7	breast:
3	chr6:64281737..64284624-chr6:64398462..64401172,2	MCF-7	breast:
4	chr6:64396895..64400297-chr6:64403674..64407120,4	K562	blood:

Variant related genes	Relation type
ENSG00000112245	chromatin interactions
ENSG00000266680	chromatin interactions

Extended variants
information (count: 45 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112809861	chr6:64397831-64397832	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs529082878	chr6:64397834-64397835	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs10755432	chr6:64397853-64397854	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs562429302	chr6:64397859-64397860	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs375233904	chr6:64397865-64397866	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs377486519	chr6:64397923-64397924	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs550986302	chr6:64397937-64397938	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs370302811	chr6:64397946-64397947	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs566432497	chr6:64397953-64397954	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs185235704	chr6:64397958-64397959	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs549014084	chr6:64398004-64398005	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs188799745	chr6:64398011-64398012	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs536046366	chr6:64398012-64398013	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs538455688	chr6:64398036-64398037	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs371554824	chr6:64398086-64398087	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs376840702	chr6:64398138-64398139	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs557796555	chr6:64398143-64398144	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs113892224	chr6:64398184-64398185	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs541026900	chr6:64398252-64398253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs34552286	chr6:64398269-64398270	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs570998832	chr6:64398350-64398351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs181178710	chr6:64398372-64398373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs147385676	chr6:64398383-64398384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs139437513	chr6:64398425-64398426	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs573144422	chr6:64398444-64398445	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs76839610	chr6:64398447-64398448	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs544733591	chr6:64398467-64398468	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs113411536	chr6:64398469-64398470	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs186677880	chr6:64398488-64398489	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs542938657	chr6:64398490-64398491	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs560824963	chr6:64398515-64398516	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs184044790	chr6:64398527-64398528	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs372244925	chr6:64398551-64398552	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs150897508	chr6:64398566-64398567	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs139412233	chr6:64398594-64398595	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs188341548	chr6:64398600-64398601	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs375283355	chr6:64398608-64398609	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs562316266	chr6:64398657-64398658	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs139395601	chr6:64398751-64398752	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs150025308	chr6:64398762-64398763	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs544866023	chr6:64398788-64398789	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs145343280	chr6:64398790-64398791	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs527273742	chr6:64398807-64398808	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs548843192	chr6:64398811-64398812	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs11968477	chr6:64398816-64398817	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:77)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
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
Endometrioid adenocarcinoma	16974079	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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Lung cancer	18438408	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	21364760	CNVD
Cancer	20164920	CNVD
Prostate cancer	16573809	CNVD
Ovarian cancer	19835627	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21183584	CNVD
Glioblastoma multiforme	22286061	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
Developmental delay	21147756	CNVD
small cell lung cancer	20016488	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD

Chromatin state (count:145 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:64347000-64422400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr6:64351200-64405000	Weak transcription	Thymus	Thymus
3	chr6:64354000-64421200	Weak transcription	Gastric	stomach
4	chr6:64365800-64409400	Weak transcription	Fetal Stomach	stomach
5	chr6:64370800-64413400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr6:64371000-64409000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr6:64374200-64405800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr6:64374200-64414600	Weak transcription	HMEC	breast
9	chr6:64375600-64409000	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr6:64381400-64405200	Weak transcription	Brain Germinal Matrix	brain
11	chr6:64384600-64414400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr6:64387200-64410200	Weak transcription	Colonic Mucosa	Colon
13	chr6:64387200-64421000	Weak transcription	Aorta	Aorta
14	chr6:64387400-64419400	Weak transcription	Fetal Heart	heart
15	chr6:64387600-64421000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr6:64387600-64423400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr6:64388000-64412800	Weak transcription	Lung	lung
18	chr6:64388200-64410200	Weak transcription	Fetal Brain Female	brain
19	chr6:64388800-64397800	Strong transcription	Fetal Thymus	thymus
20	chr6:64390000-64397800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr6:64390000-64417600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr6:64391000-64401000	Weak transcription	Brain Cingulate Gyrus	brain
23	chr6:64391800-64397800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr6:64391800-64410800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr6:64392000-64397800	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr6:64392200-64406000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr6:64392200-64422400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr6:64392600-64409200	Weak transcription	Osteobl	bone
29	chr6:64392800-64425200	Weak transcription	NHEK	skin
30	chr6:64393200-64417600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr6:64393400-64398000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr6:64393400-64423400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr6:64394600-64414000	Weak transcription	NHLF	lung
34	chr6:64394800-64400200	Weak transcription	Brain Angular Gyrus	brain
35	chr6:64394800-64408400	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr6:64394800-64408800	Weak transcription	HUVEC	blood vessel
37	chr6:64394800-64409000	Weak transcription	NHDF-Ad	bronchial
38	chr6:64394800-64413200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr6:64394800-64413200	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr6:64394800-64414000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr6:64395000-64404800	Weak transcription	Colon Smooth Muscle	Colon
42	chr6:64395000-64408400	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr6:64395000-64409000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr6:64395000-64409600	Weak transcription	Psoas Muscle	Psoas
45	chr6:64395000-64413200	Weak transcription	NH-A	brain
46	chr6:64395000-64414000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr6:64395000-64414000	Weak transcription	Rectal Smooth Muscle	rectum
48	chr6:64395000-64414800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr6:64395200-64398400	Weak transcription	Primary hematopoietic stem cells	blood
50	chr6:64395200-64400800	Weak transcription	Hela-S3	cervix

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