Variant report

Variant	esv275228
Chromosome Location	chr6:143539833-143549921
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:143545126..143547256-chr6:143547619..143550136,2	K562	blood:
2	chr6:143520892..143523163-chr6:143544136..143548035,3	K562	blood:
3	chr6:143549517..143552462-chr6:143560418..143563692,3	K562	blood:
4	chr6:143544038..143546858-chr6:143561031..143564027,2	K562	blood:
5	chr6:143538181..143539746-chr6:143541338..143543676,2	MCF-7	breast:
6	chr6:143267204..143268811-chr6:143547362..143549725,2	MCF-7	breast:
7	chr6:143545126..143547256-chr6:143547619..143550136,2	K562	blood:
8	chr6:143380527..143382813-chr6:143547282..143549388,2	MCF-7	breast:
9	chr6:143533693..143535662-chr6:143539028..143541980,2	K562	blood:
10	chr6:143547341..143549506-chr6:143558186..143560896,2	K562	blood:
11	chr6:143544257..143547136-chr6:143557817..143559656,2	K562	blood:
12	chr6:143515015..143517690-chr6:143543085..143544617,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000146416	chromatin interactions

Extended variants
information (count: 357 )
Associated
traits (count: 79 )

Variant overlapped rSNPs/rCNVs (count:357 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9386028	chr6:143539833-143539834	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs192031850	chr6:143539851-143539852	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs201270422	chr6:143539880-143539881	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs554547171	chr6:143539945-143539946	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs60327570	chr6:143540010-143540011	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs182969521	chr6:143540029-143540030	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs564759890	chr6:143540103-143540104	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs577671561	chr6:143540125-143540126	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs150217443	chr6:143540144-143540145	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs146740990	chr6:143540161-143540162	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs527683824	chr6:143540162-143540163	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs199604967	chr6:143540176-143540177	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs373472125	chr6:143540194-143540195	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs561529972	chr6:143540197-143540198	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs199510977	chr6:143540234-143540235	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs532063252	chr6:143540238-143540239	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs187184112	chr6:143540240-143540241	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs191100820	chr6:143540295-143540296	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs183652745	chr6:143540297-143540298	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs112806762	chr6:143540321-143540322	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs565796679	chr6:143540359-143540360	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535857822	chr6:143540369-143540370	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554159547	chr6:143540374-143540375	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575904489	chr6:143540376-143540377	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs530186359	chr6:143540396-143540397	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs193055529	chr6:143540424-143540425	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558293460	chr6:143540432-143540433	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs576620546	chr6:143540441-143540442	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs12213958	chr6:143540471-143540472	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs118075041	chr6:143540511-143540512	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs185819590	chr6:143540537-143540538	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs542624340	chr6:143540583-143540584	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs536926876	chr6:143540608-143540609	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs189946414	chr6:143540618-143540619	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs113101829	chr6:143540647-143540648	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs550486409	chr6:143540663-143540664	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs565624087	chr6:143540714-143540715	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs182181722	chr6:143540764-143540765	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183971918	chr6:143540768-143540769	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs531365435	chr6:143540801-143540802	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs565605610	chr6:143540852-143540853	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs188702940	chr6:143540887-143540888	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs114462255	chr6:143540953-143540954	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs11970459	chr6:143541009-143541010	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs536692045	chr6:143541014-143541015	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs558427500	chr6:143541047-143541048	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs145597550	chr6:143541048-143541049	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs551373644	chr6:143541058-143541059	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs2876551	chr6:143541064-143541065	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs572399303	chr6:143541091-143541092	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:208 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:143514200-143545400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr6:143514400-143545200	Weak transcription	HMEC	breast
3	chr6:143516000-143545600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr6:143525600-143544200	Weak transcription	HepG2	liver
5	chr6:143525800-143545800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr6:143527400-143552000	Weak transcription	Brain Angular Gyrus	brain
7	chr6:143527400-143578800	Weak transcription	Brain Hippocampus Middle	brain
8	chr6:143533800-143542000	Weak transcription	Colon Smooth Muscle	Colon
9	chr6:143535000-143540400	Weak transcription	Fetal Intestine Large	intestine
10	chr6:143535000-143540600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr6:143535000-143541000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr6:143535000-143541000	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr6:143535000-143541000	Weak transcription	Fetal Intestine Small	intestine
14	chr6:143535000-143541600	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr6:143535000-143541600	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr6:143535000-143544200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr6:143535000-143544200	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr6:143535000-143545200	Weak transcription	Pancreas	Pancrea
19	chr6:143535000-143549600	Weak transcription	Lung	lung
20	chr6:143535000-143551000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr6:143535000-143568000	Weak transcription	Aorta	Aorta
22	chr6:143536000-143543000	Weak transcription	Ovary	ovary
23	chr6:143536000-143543000	Weak transcription	Right Atrium	heart
24	chr6:143536200-143546000	Weak transcription	Right Ventricle	heart
25	chr6:143536600-143542800	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr6:143537000-143543000	Weak transcription	Fetal Muscle Leg	muscle
27	chr6:143537600-143542000	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr6:143537600-143542800	Weak transcription	Fetal Lung	lung
29	chr6:143537800-143542000	Weak transcription	Rectal Smooth Muscle	rectum
30	chr6:143537800-143542400	Weak transcription	Stomach Smooth Muscle	stomach
31	chr6:143537800-143547200	Strong transcription	K562	blood
32	chr6:143538000-143540400	Weak transcription	Left Ventricle	heart
33	chr6:143538000-143542400	Weak transcription	Fetal Stomach	stomach
34	chr6:143538000-143542400	Weak transcription	Psoas Muscle	Psoas
35	chr6:143538000-143542600	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr6:143539000-143543200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr6:143539400-143542000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr6:143539600-143540200	Strong transcription	Liver	Liver
39	chr6:143539800-143542800	Enhancers	Fetal Heart	heart
40	chr6:143540200-143540800	Weak transcription	Liver	Liver
41	chr6:143540200-143542800	Weak transcription	Adipose Nuclei	Adipose
42	chr6:143540400-143541400	Enhancers	Left Ventricle	heart
43	chr6:143540400-143542200	Strong transcription	Fetal Intestine Large	intestine
44	chr6:143540800-143541800	Strong transcription	Liver	Liver
45	chr6:143540800-143545200	Weak transcription	NHEK	skin
46	chr6:143541000-143541200	Enhancers	H9 Cell Line	embryonic stem cell
47	chr6:143541000-143541200	Enhancers	Brain Cingulate Gyrus	brain
48	chr6:143541000-143541400	Strong transcription	Fetal Intestine Small	intestine
49	chr6:143541000-143545400	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr6:143541200-143541600	Weak transcription	H9 Cell Line	embryonic stem cell

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