Variant report

Variant	esv3473547
Chromosome Location	chr6:147568544-147569710
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:147565112..147568685-chr6:147569145..147570967,3	K562	blood:
2	chr6:147563079..147565638-chr6:147567520..147569543,2	K562	blood:
3	chr6:147565658..147568685-chr6:147568738..147571330,4	K562	blood:
4	chr6:147565112..147568685-chr6:147569145..147570967,3	K562	blood:
5	chr6:147563409..147564975-chr6:147566819..147568813,2	MCF-7	breast:
6	chr6:147565658..147568685-chr6:147568738..147571330,4	K562	blood:
7	chr6:147568954..147571594-chr6:147577183..147580125,4	K562	blood:

No data

Extended variants
information (count: 52 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139501292	chr6:147568557-147568558	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs549591476	chr6:147568589-147568590	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs569770911	chr6:147568604-147568605	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs187663554	chr6:147568694-147568695	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs190633889	chr6:147568699-147568700	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs548520139	chr6:147568720-147568721	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568540765	chr6:147568762-147568763	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs572500080	chr6:147568766-147568767	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs144902241	chr6:147568769-147568770	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554989492	chr6:147568795-147568796	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557143063	chr6:147568862-147568863	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs531738748	chr6:147568869-147568870	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs182852395	chr6:147568988-147568989	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs557599189	chr6:147569019-147569020	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs577377089	chr6:147569029-147569030	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs188288214	chr6:147569104-147569105	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs192575227	chr6:147569105-147569106	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs527376009	chr6:147569138-147569139	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs148629423	chr6:147569139-147569140	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs7742922	chr6:147569176-147569177	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs182929986	chr6:147569184-147569185	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs140618972	chr6:147569205-147569206	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs549821462	chr6:147569218-147569219	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs569889932	chr6:147569237-147569238	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs9497730	chr6:147569276-147569277	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs187526524	chr6:147569293-147569294	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs566077820	chr6:147569300-147569301	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs535102027	chr6:147569309-147569310	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs555073181	chr6:147569320-147569321	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs568481378	chr6:147569344-147569345	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs192636482	chr6:147569371-147569372	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs567211275	chr6:147569381-147569382	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs541310090	chr6:147569382-147569383	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs376510403	chr6:147569396-147569397	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs184669150	chr6:147569451-147569452	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs577462180	chr6:147569469-147569470	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs546120002	chr6:147569470-147569471	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs553517007	chr6:147569479-147569480	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs571835616	chr6:147569492-147569493	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs540746345	chr6:147569522-147569523	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs145351599	chr6:147569532-147569533	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs550968227	chr6:147569536-147569537	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs189117817	chr6:147569553-147569554	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs574512409	chr6:147569556-147569557	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs368920770	chr6:147569603-147569604	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs372845862	chr6:147569608-147569609	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs543357465	chr6:147569634-147569635	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs563476745	chr6:147569639-147569640	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs532423731	chr6:147569648-147569649	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs543622897	chr6:147569678-147569679	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Autism	21448237	CNVD
Autism	22495311	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
lymphocytic leukemia	21291569	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
Zellweger syndrome	21572526	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
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Follicular lymphoma	18703704	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung cancer	18438408	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD

Chromatin state (count:133 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:147526000-147572200	Weak transcription	Lung	lung
2	chr6:147527200-147570000	Weak transcription	Left Ventricle	heart
3	chr6:147527200-147572000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:147527200-147572200	Weak transcription	Esophagus	oesophagus
5	chr6:147527400-147576400	Weak transcription	HSMMtube	muscle
6	chr6:147527800-147586800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr6:147528800-147572000	Weak transcription	A549	lung
8	chr6:147529000-147572200	Weak transcription	Aorta	Aorta
9	chr6:147529400-147571800	Weak transcription	Fetal Brain Male	brain
10	chr6:147530000-147572000	Weak transcription	NHEK	skin
11	chr6:147533200-147572200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr6:147534000-147572200	Weak transcription	Brain Cingulate Gyrus	brain
13	chr6:147537600-147572200	Weak transcription	Ovary	ovary
14	chr6:147537800-147571600	Weak transcription	Fetal Muscle Trunk	muscle
15	chr6:147538200-147572200	Weak transcription	Spleen	Spleen
16	chr6:147538400-147572200	Weak transcription	Fetal Lung	lung
17	chr6:147538800-147572200	Weak transcription	Placenta	Placenta
18	chr6:147540200-147569600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr6:147540200-147572000	Weak transcription	Thymus	Thymus
20	chr6:147542400-147590800	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr6:147543800-147572200	Weak transcription	Rectal Smooth Muscle	rectum
22	chr6:147543800-147588800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr6:147544000-147572200	Weak transcription	GM12878-XiMat	blood
24	chr6:147544200-147574200	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr6:147544400-147574800	Weak transcription	HepG2	liver
26	chr6:147545600-147571600	Weak transcription	Fetal Muscle Leg	muscle
27	chr6:147545600-147617000	Weak transcription	Small Intestine	intestine
28	chr6:147549200-147572200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr6:147549400-147616800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr6:147549600-147572200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr6:147549600-147578200	Weak transcription	Fetal Heart	heart
32	chr6:147549600-147584600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr6:147549600-147587200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr6:147552600-147591800	Weak transcription	HUVEC	blood vessel
35	chr6:147554600-147590000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr6:147556200-147574600	Strong transcription	Muscle Satellite Cultured Cells	--
37	chr6:147556400-147568800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr6:147556400-147572200	Weak transcription	Brain Angular Gyrus	brain
39	chr6:147556400-147572200	Weak transcription	Gastric	stomach
40	chr6:147556800-147568600	Strong transcription	Rectal Mucosa Donor 31	rectum
41	chr6:147557000-147569800	Weak transcription	Fetal Brain Female	brain
42	chr6:147557200-147572200	Weak transcription	Brain Germinal Matrix	brain
43	chr6:147557400-147572000	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr6:147557600-147571600	Weak transcription	Liver	Liver
45	chr6:147557600-147572200	Weak transcription	Colonic Mucosa	Colon
46	chr6:147558000-147572200	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr6:147559600-147570000	Weak transcription	Fetal Stomach	stomach
48	chr6:147559600-147570400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr6:147559600-147571400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr6:147559600-147572000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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