Variant report

Variant	esv3432200
Chromosome Location	chr6:167342462-167345660
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 207 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:207 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552362081	chr6:167342467-167342468	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs140538807	chr6:167342503-167342504	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs73041468	chr6:167342535-167342536	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs549466706	chr6:167342538-167342539	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs546963581	chr6:167342622-167342623	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs568472419	chr6:167342624-167342625	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs191479201	chr6:167342662-167342663	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs569638221	chr6:167342663-167342664	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs569385949	chr6:167342666-167342667	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs539897680	chr6:167342700-167342701	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs73041471	chr6:167342732-167342733	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs183585846	chr6:167342748-167342749	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs186499909	chr6:167342762-167342763	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs145635776	chr6:167342766-167342767	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs71571466	chr6:167342767-167342768	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs374859457	chr6:167342810-167342811	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs546984975	chr6:167342833-167342834	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs36060827	chr6:167342834-167342835	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs58694992	chr6:167342844-167342845	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs541439299	chr6:167342888-167342889	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs572008171	chr6:167342915-167342916	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs562902932	chr6:167342939-167342940	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs575042140	chr6:167343010-167343011	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs545571653	chr6:167343021-167343022	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs375685341	chr6:167343028-167343029	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs113535593	chr6:167343070-167343071	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs564736798	chr6:167343079-167343080	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs139552047	chr6:167343082-167343083	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs76894173	chr6:167343100-167343101	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs140357917	chr6:167343106-167343107	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs539299924	chr6:167343122-167343123	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs146590748	chr6:167343140-167343141	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs11159	chr6:167343141-167343142	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs199823417	chr6:167343142-167343143	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs201458874	chr6:167343148-167343149	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs149922066	chr6:167343150-167343151	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs537280779	chr6:167343151-167343152	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs145013301	chr6:167343167-167343168	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs149106779	chr6:167343179-167343180	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs35716361	chr6:167343185-167343186	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs74546166	chr6:167343187-167343188	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs202105909	chr6:167343195-167343196	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs35517174	chr6:167343199-167343200	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs200901770	chr6:167343200-167343201	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs41269593	chr6:167343204-167343205	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs201960492	chr6:167343205-167343206	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs373290604	chr6:167343224-167343225	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs137968522	chr6:167343237-167343238	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs370545130	chr6:167343283-167343284	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs192559541	chr6:167343296-167343297	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
Chordoma	18071362	CNVD
Glioblastoma multiforme	19435819	CNVD
Developmental delay	21147756	CNVD
Ovarian cancer	21720365	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
Acute lymphoblastic leukemia	18458336	CNVD
Cancer	17440070	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:222 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:167318400-167343800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr6:167334000-167343600	Weak transcription	Fetal Brain Male	brain
3	chr6:167335400-167343800	Weak transcription	Right Atrium	heart
4	chr6:167335600-167346200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr6:167337400-167343000	Weak transcription	Brain Cingulate Gyrus	brain
6	chr6:167337600-167350000	Weak transcription	Ovary	ovary
7	chr6:167337600-167363400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr6:167338200-167356000	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr6:167339000-167343800	Strong transcription	GM12878-XiMat	blood
10	chr6:167339200-167344000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr6:167339200-167348400	Strong transcription	Primary T cells from cord blood	blood
12	chr6:167339400-167343800	Weak transcription	Brain Angular Gyrus	brain
13	chr6:167340000-167358800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr6:167340000-167363000	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr6:167340000-167363000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr6:167340200-167342600	Strong transcription	Primary B cells from peripheral blood	blood
17	chr6:167340200-167342800	Strong transcription	Fetal Thymus	thymus
18	chr6:167340200-167343800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr6:167340200-167344200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr6:167340200-167344800	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr6:167340200-167349800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr6:167340200-167354600	Strong transcription	Fetal Intestine Small	intestine
23	chr6:167340200-167362800	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr6:167340400-167342600	Strong transcription	Primary B cells from cord blood	blood
25	chr6:167340400-167343400	Strong transcription	Duodenum Mucosa	Duodenum
26	chr6:167340400-167343800	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr6:167340400-167344600	Strong transcription	Stomach Smooth Muscle	stomach
28	chr6:167340400-167357200	Strong transcription	Sigmoid Colon	Sigmoid Colon
29	chr6:167340400-167363000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr6:167340600-167342800	Weak transcription	Brain Germinal Matrix	brain
31	chr6:167340600-167343800	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr6:167340600-167344400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr6:167340600-167345600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr6:167340600-167348400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr6:167340600-167353400	Strong transcription	HepG2	liver
36	chr6:167340600-167363000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr6:167340800-167343400	Strong transcription	Spleen	Spleen
38	chr6:167340800-167343600	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr6:167340800-167343800	Weak transcription	Fetal Kidney	kidney
40	chr6:167340800-167343800	Weak transcription	Fetal Lung	lung
41	chr6:167340800-167344200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr6:167340800-167344600	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr6:167340800-167350000	Weak transcription	Fetal Brain Female	brain
44	chr6:167340800-167359600	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr6:167341000-167343600	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr6:167341000-167349800	Weak transcription	Fetal Muscle Leg	muscle
47	chr6:167341000-167368800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr6:167341200-167348800	Strong transcription	Thymus	Thymus
49	chr6:167341200-167368800	Weak transcription	Colon Smooth Muscle	Colon
50	chr6:167341400-167342800	Strong transcription	Primary T killer naive cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links