Variant report

Variant	esv3402921
Chromosome Location	chr6:143090059-143097157
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:143096514..143098025-chr6:143100418..143102424,2	K562	blood:
2	chr6:143093844..143096045-chr6:143109102..143111677,2	K562	blood:
3	chr6:143086781..143088795-chr6:143092822..143094348,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000237851	chromatin interactions

Extended variants
information (count: 337 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:337 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573105021	chr6:143090080-143090081	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs543541472	chr6:143090223-143090224	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs540385686	chr6:143090263-143090264	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs189411411	chr6:143090266-143090267	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs573831383	chr6:143090267-143090268	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs541869055	chr6:143090344-143090345	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs114234057	chr6:143090362-143090363	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs530813527	chr6:143090368-143090369	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs545924257	chr6:143090375-143090376	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs564225624	chr6:143090400-143090401	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs528676657	chr6:143090438-143090439	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs73780161	chr6:143090447-143090448	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs568668256	chr6:143090448-143090449	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs529632813	chr6:143090490-143090491	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs138205325	chr6:143090519-143090520	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs78034208	chr6:143090557-143090558	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs150634818	chr6:143090577-143090578	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs11757764	chr6:143090609-143090610	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs139579352	chr6:143090627-143090628	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs75657229	chr6:143090633-143090634	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs369365828	chr6:143090654-143090655	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs533748769	chr6:143090658-143090659	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs376829595	chr6:143090660-143090661	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs555499388	chr6:143090670-143090671	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs573746906	chr6:143090702-143090703	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs34530989	chr6:143090734-143090735	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs375470171	chr6:143090778-143090779	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs566948180	chr6:143090789-143090790	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs34296594	chr6:143090803-143090804	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs371213412	chr6:143090806-143090807	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs564262712	chr6:143090835-143090836	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs528540923	chr6:143090890-143090891	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs373769700	chr6:143090941-143090942	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs181431283	chr6:143090943-143090944	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs540360531	chr6:143090952-143090953	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs562352607	chr6:143090965-143090966	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs529443547	chr6:143090972-143090973	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs367696862	chr6:143091015-143091016	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs371829616	chr6:143091016-143091017	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs200341239	chr6:143091019-143091020	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs199846091	chr6:143091021-143091022	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs13205157	chr6:143091028-143091029	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs13204946	chr6:143091029-143091030	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs532976689	chr6:143091042-143091043	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs201466143	chr6:143091044-143091045	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs202211977	chr6:143091063-143091064	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs367885572	chr6:143091069-143091070	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs200341815	chr6:143091126-143091127	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs185815288	chr6:143091148-143091149	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs190617929	chr6:143091154-143091155	Weak transcription Strong transcription 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
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Primary central nervous system lymphoma	21088137	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
Breast cancer	21364760	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
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:369 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:143072800-143094800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr6:143072800-143095200	Strong transcription	Fetal Thymus	thymus
3	chr6:143072800-143095400	Weak transcription	Fetal Kidney	kidney
4	chr6:143073000-143090800	Weak transcription	Right Atrium	heart
5	chr6:143073000-143096000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr6:143074000-143094000	Strong transcription	Primary T cells fromperipheralblood	blood
7	chr6:143074800-143095800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:143075000-143091000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr6:143078200-143096200	Strong transcription	Primary hematopoietic stem cells	blood
10	chr6:143081400-143090800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr6:143081400-143091200	Weak transcription	Right Ventricle	heart
12	chr6:143081600-143091000	Weak transcription	Gastric	stomach
13	chr6:143081600-143095400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr6:143081600-143095600	Weak transcription	Stomach Mucosa	stomach
15	chr6:143081800-143090200	Weak transcription	Fetal Intestine Small	intestine
16	chr6:143081800-143090200	Weak transcription	Lung	lung
17	chr6:143081800-143090800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr6:143081800-143090800	Weak transcription	Brain Hippocampus Middle	brain
19	chr6:143081800-143090800	Weak transcription	Esophagus	oesophagus
20	chr6:143081800-143090800	Weak transcription	Fetal Stomach	stomach
21	chr6:143081800-143090800	Weak transcription	Pancreas	Pancrea
22	chr6:143081800-143090800	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr6:143081800-143090800	Weak transcription	Spleen	Spleen
24	chr6:143081800-143091000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr6:143081800-143091200	Weak transcription	Aorta	Aorta
26	chr6:143081800-143091400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr6:143081800-143092000	Weak transcription	Brain Angular Gyrus	brain
28	chr6:143081800-143093600	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr6:143081800-143094000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr6:143081800-143095200	Weak transcription	Colonic Mucosa	Colon
31	chr6:143081800-143095800	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr6:143081800-143097000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr6:143081800-143105600	Weak transcription	Small Intestine	intestine
34	chr6:143082000-143090400	Weak transcription	Colon Smooth Muscle	Colon
35	chr6:143082000-143090800	Weak transcription	Stomach Smooth Muscle	stomach
36	chr6:143082000-143091800	Weak transcription	Fetal Lung	lung
37	chr6:143082000-143092000	Weak transcription	Brain Substantia Nigra	brain
38	chr6:143082000-143092600	Weak transcription	Brain Cingulate Gyrus	brain
39	chr6:143082000-143092800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr6:143082000-143096200	Weak transcription	A549	lung
41	chr6:143082200-143090200	Weak transcription	Fetal Brain Female	brain
42	chr6:143082200-143090200	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr6:143082200-143091000	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr6:143082200-143094400	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr6:143082200-143095000	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr6:143082200-143095400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr6:143082200-143097000	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr6:143082400-143090400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr6:143082400-143090600	Weak transcription	Brain Germinal Matrix	brain
50	chr6:143082400-143090600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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