Variant report

Variant	esv3372927
Chromosome Location	chr6:151095559-151100857
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:150735006..150737678-chr6:151094052..151096200,2	K562	blood:

Extended variants
information (count: 256 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:256 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192005526	chr6:151095579-151095580	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs182898779	chr6:151095619-151095620	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs113996611	chr6:151095642-151095643	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs116746280	chr6:151095654-151095655	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs528985448	chr6:151095664-151095665	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs572356344	chr6:151095668-151095669	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs66780578	chr6:151095684-151095685	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs61521577	chr6:151095695-151095696	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs111773268	chr6:151095711-151095712	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs116281057	chr6:151095741-151095742	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs562159422	chr6:151095764-151095765	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs187970605	chr6:151095771-151095772	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551277354	chr6:151095780-151095781	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs571210228	chr6:151095816-151095817	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs576387909	chr6:151095821-151095822	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs144850161	chr6:151095834-151095835	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs371658710	chr6:151095856-151095857	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs546683825	chr6:151095864-151095865	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs566906671	chr6:151095865-151095866	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs11961087	chr6:151095945-151095946	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs537074558	chr6:151095946-151095947	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs568694516	chr6:151095968-151095969	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs537676574	chr6:151095972-151095973	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs550345822	chr6:151095996-151095997	Weak transcription Strong transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs147724080	chr6:151096010-151096011	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs9478813	chr6:151096023-151096024	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs577525684	chr6:151096024-151096025	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs742638	chr6:151096034-151096035	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs553510803	chr6:151096038-151096039	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs573647554	chr6:151096053-151096054	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs77603356	chr6:151096138-151096139	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs34109211	chr6:151096179-151096180	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs742637	chr6:151096180-151096181	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs182328427	chr6:151096186-151096187	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs188023923	chr6:151096198-151096199	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs368578657	chr6:151096209-151096210	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs75851882	chr6:151096229-151096230	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs149010781	chr6:151096242-151096243	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs111932712	chr6:151096271-151096272	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs544862962	chr6:151096302-151096303	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs551019971	chr6:151096325-151096326	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs116429230	chr6:151096347-151096348	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs372169468	chr6:151096371-151096372	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs62432669	chr6:151096375-151096376	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs148194301	chr6:151096381-151096382	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs192299866	chr6:151096391-151096392	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs539597746	chr6:151096404-151096405	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs742636	chr6:151096419-151096420	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs184994964	chr6:151096420-151096421	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs549185987	chr6:151096462-151096463	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
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
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
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
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
Cancer	17160897	CNVD
Breast cancer	17417639	CNVD
Breast cancer	17850661	CNVD
Renal cell carcinoma	18765545	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Ovarian neoplasms	16753589	CNVD
Retinoblastoma	22278416	CNVD
Breast cancer	20556506	CNVD
Hirschsprung''s Disease	21712996	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:155 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:151061600-151112200	Weak transcription	Right Atrium	heart
2	chr6:151086000-151097800	Weak transcription	Lung	lung
3	chr6:151086000-151098000	Weak transcription	Liver	Liver
4	chr6:151086000-151098000	Weak transcription	Spleen	Spleen
5	chr6:151086000-151121400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr6:151087600-151109200	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr6:151088200-151096600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr6:151088200-151121400	Weak transcription	Fetal Muscle Trunk	muscle
9	chr6:151089000-151096200	Weak transcription	HMEC	breast
10	chr6:151089000-151097000	Weak transcription	Ovary	ovary
11	chr6:151089000-151098000	Weak transcription	Esophagus	oesophagus
12	chr6:151089000-151105200	Weak transcription	Left Ventricle	heart
13	chr6:151089000-151109800	Weak transcription	Fetal Brain Male	brain
14	chr6:151089400-151096600	Weak transcription	NH-A	brain
15	chr6:151089800-151096600	Weak transcription	Brain Cingulate Gyrus	brain
16	chr6:151090200-151098000	Weak transcription	Fetal Kidney	kidney
17	chr6:151091000-151125800	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr6:151091400-151099000	Weak transcription	Placenta	Placenta
19	chr6:151092200-151097800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr6:151092800-151096600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr6:151093000-151095800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr6:151093000-151100400	Strong transcription	Primary B cells from cord blood	blood
23	chr6:151093000-151109400	Weak transcription	Fetal Heart	heart
24	chr6:151094000-151095600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
25	chr6:151094200-151105400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr6:151094600-151095800	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr6:151094800-151095600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr6:151094800-151095600	Weak transcription	Fetal Thymus	thymus
29	chr6:151094800-151096200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr6:151094800-151096800	Weak transcription	Thymus	Thymus
31	chr6:151094800-151097800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr6:151094800-151098000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr6:151094800-151098800	Weak transcription	Fetal Stomach	stomach
34	chr6:151095000-151095600	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr6:151095200-151095600	ZNF genes & repeats	Adipose Nuclei	Adipose
36	chr6:151095400-151096600	Weak transcription	Fetal Lung	lung
37	chr6:151095600-151096000	ZNF genes & repeats	Fetal Thymus	thymus
38	chr6:151095600-151096200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr6:151095600-151096200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr6:151095600-151096600	Weak transcription	Brain Hippocampus Middle	brain
41	chr6:151095600-151097400	Weak transcription	Adipose Nuclei	Adipose
42	chr6:151095600-151098000	Weak transcription	Primary B cells from peripheral blood	blood
43	chr6:151095800-151096200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr6:151095800-151096800	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr6:151096000-151097400	Weak transcription	Duodenum Mucosa	Duodenum
46	chr6:151096000-151100600	Strong transcription	Fetal Thymus	thymus
47	chr6:151096200-151096400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr6:151096200-151096800	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr6:151096200-151097000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr6:151096200-151097000	Weak transcription	Fetal Muscle Leg	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links