Variant report

Variant	esv2761039
Chromosome Location	chr6:167263541-167273178
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:167263153..167265718-chr6:167272365..167274771,2	K562	blood:
2	chr6:167263153..167265718-chr6:167272365..167274771,2	K562	blood:
3	chr6:167268417..167269941-chr6:167289089..167292061,2	K562	blood:
4	chr6:167266120..167268418-chr6:167368019..167370456,2	K562	blood:

Variant related genes	Relation type
ENSG00000026297	chromatin interactions
ENSG00000249141	chromatin interactions

Extended variants
information (count: 493 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:493 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs552736957	chr6:167263545-167263546	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs574420677	chr6:167263574-167263575	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs541720081	chr6:167263612-167263613	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs202168404	chr6:167263692-167263693	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs36016573	chr6:167263693-167263694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs397886283	chr6:167263700-167263701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs563178312	chr6:167263729-167263730	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs372579894	chr6:167263819-167263820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs397796310	chr6:167263828-167263829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs150083174	chr6:167263850-167263851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs145879010	chr6:167264069-167264070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs545602085	chr6:167264095-167264096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs4710117	chr6:167264101-167264102	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
14	rs4710118	chr6:167264111-167264112	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs367668015	chr6:167264121-167264122	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs4710119	chr6:167264129-167264130	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs4710120	chr6:167264136-167264137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs529652167	chr6:167264152-167264153	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs551253131	chr6:167264182-167264183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs141851347	chr6:167264198-167264199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs9348195	chr6:167264306-167264307	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs59700440	chr6:167264307-167264308	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs61682277	chr6:167264315-167264316	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs534008217	chr6:167264324-167264325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs536314962	chr6:167264341-167264342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs182099574	chr6:167264348-167264349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs567905101	chr6:167264438-167264439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs573255152	chr6:167264440-167264441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs371834743	chr6:167264475-167264476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs186694032	chr6:167264531-167264532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs147091400	chr6:167264572-167264573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs73788171	chr6:167264584-167264585	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs545818318	chr6:167264635-167264636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs190010630	chr6:167264662-167264663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs73270761	chr6:167264666-167264667	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs78488082	chr6:167264703-167264704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs143926515	chr6:167264704-167264705	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs143272477	chr6:167264746-167264747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs563165260	chr6:167264768-167264769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs538693798	chr6:167264774-167264775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs118051809	chr6:167264780-167264781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs181270250	chr6:167264786-167264787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs114242643	chr6:167264807-167264808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs373981296	chr6:167264822-167264823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs185092156	chr6:167264834-167264835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs567935339	chr6:167264846-167264847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs528784694	chr6:167264847-167264848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs144788086	chr6:167264850-167264851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs535237628	chr6:167264869-167264870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs189557085	chr6:167264877-167264878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

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
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
Autism	22549408	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:167249000-167272200	Weak transcription	Fetal Stomach	stomach
2	chr6:167251200-167266000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:167251800-167272800	Weak transcription	Stomach Smooth Muscle	stomach
4	chr6:167253000-167265400	Weak transcription	Brain Anterior Caudate	brain
5	chr6:167260400-167274400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr6:167262000-167264400	Enhancers	Primary B cells from peripheral blood	blood
7	chr6:167262000-167264600	Weak transcription	Brain Cingulate Gyrus	brain
8	chr6:167262000-167275000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr6:167262200-167265400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:167262600-167263800	Enhancers	Primary B cells from cord blood	blood
11	chr6:167262600-167265400	Weak transcription	Brain Hippocampus Middle	brain
12	chr6:167262600-167266000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr6:167262600-167267200	Enhancers	Fetal Brain Male	brain
14	chr6:167263000-167263800	Weak transcription	Pancreas	Pancrea
15	chr6:167263200-167263600	Enhancers	GM12878-XiMat	blood
16	chr6:167263200-167263600	Bivalent Enhancer	K562	blood
17	chr6:167263200-167263800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr6:167263200-167266000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr6:167263600-167265600	Weak transcription	GM12878-XiMat	blood
20	chr6:167263800-167265000	Enhancers	K562	blood
21	chr6:167263800-167265800	Weak transcription	Primary B cells from cord blood	blood
22	chr6:167264000-167264200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr6:167264200-167264400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr6:167264200-167264400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr6:167264200-167265600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr6:167264200-167267400	Enhancers	Brain Germinal Matrix	brain
27	chr6:167264400-167264600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr6:167264400-167264600	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr6:167264400-167265600	Weak transcription	Primary B cells from peripheral blood	blood
30	chr6:167264400-167266400	Enhancers	Fetal Brain Female	brain
31	chr6:167264400-167271400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr6:167264600-167266000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr6:167264600-167266200	Enhancers	Brain Cingulate Gyrus	brain
34	chr6:167264600-167267400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr6:167264600-167274400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr6:167264600-167275000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr6:167264800-167265200	Enhancers	Brain Angular Gyrus	brain
38	chr6:167264800-167267800	Weak transcription	Right Atrium	heart
39	chr6:167265000-167266400	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr6:167265200-167267000	Weak transcription	Pancreas	Pancrea
41	chr6:167265400-167266000	Enhancers	Brain Hippocampus Middle	brain
42	chr6:167265400-167266200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr6:167265400-167267600	Enhancers	Brain Anterior Caudate	brain
44	chr6:167265600-167266200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr6:167265600-167266600	Weak transcription	Brain Angular Gyrus	brain
46	chr6:167265600-167266800	Enhancers	GM12878-XiMat	blood
47	chr6:167265600-167267200	Enhancers	Primary B cells from peripheral blood	blood
48	chr6:167265600-167272000	Weak transcription	Primary T cells from cord blood	blood
49	chr6:167265800-167266200	Enhancers	Brain Substantia Nigra	brain
50	chr6:167265800-167267200	Enhancers	Primary B cells from cord blood	blood

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