Variant report

Variant	nsv521192
Chromosome Location	chr12:46709251-46720819
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:46715775..46718180-chr12:46720691..46722273,2	K562	blood:
2	chr12:46707816..46710740-chr12:46763861..46766663,3	K562	blood:
3	chr12:46708376..46710740-chr12:46764817..46766663,2	K562	blood:
4	chr12:46715775..46718180-chr12:46720691..46722273,2	K562	blood:

Variant related genes	Relation type
ENSG00000134294	chromatin interactions
ENSG00000258096	chromatin interactions

Extended variants
information (count: 542 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:542 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2125646	chr12:46709251-46709252	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs538447688	chr12:46709271-46709272	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs138688044	chr12:46709282-46709283	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs568762944	chr12:46709289-46709290	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs7311450	chr12:46709293-46709294	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs552979689	chr12:46709307-46709308	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs201012715	chr12:46709319-46709320	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs188398147	chr12:46709336-46709337	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs550255190	chr12:46709439-46709440	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs538306485	chr12:46709442-46709443	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs192439631	chr12:46709483-46709484	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs571725899	chr12:46709505-46709506	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs73092827	chr12:46709518-46709519	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs555266201	chr12:46709526-46709527	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs547807750	chr12:46709550-46709551	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs7976362	chr12:46709562-46709563	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs561012836	chr12:46709571-46709572	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs574719347	chr12:46709579-46709580	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs540260038	chr12:46709623-46709624	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs560478181	chr12:46709665-46709666	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs532558039	chr12:46709668-46709669	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs184838830	chr12:46709715-46709716	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs562992041	chr12:46709829-46709830	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs189564473	chr12:46709831-46709832	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs550009067	chr12:46709845-46709846	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs373465736	chr12:46709915-46709916	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs531789564	chr12:46709920-46709921	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs180860795	chr12:46709942-46709943	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs568650072	chr12:46709981-46709982	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs142883948	chr12:46709982-46709983	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs374906949	chr12:46709987-46709988	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs566098454	chr12:46709993-46709994	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs150810939	chr12:46710045-46710046	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs80117714	chr12:46710065-46710066	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs35553778	chr12:46710084-46710085	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs558209941	chr12:46710104-46710105	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs149934200	chr12:46710131-46710132	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs537638220	chr12:46710186-46710187	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs114971486	chr12:46710319-46710320	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs574547338	chr12:46710352-46710353	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs144269789	chr12:46710375-46710376	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs372802347	chr12:46710402-46710403	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs573915776	chr12:46710424-46710425	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs74081935	chr12:46710467-46710468	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs143729591	chr12:46710518-46710519	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs376428713	chr12:46710532-46710533	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs528814011	chr12:46710541-46710542	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs149407716	chr12:46710551-46710552	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs546247476	chr12:46710592-46710593	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs555500642	chr12:46710630-46710631	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Gastric cancer	18160780	CNVD
Myelofibrosis	22110671	CNVD
Follicular lymphoma	20505157	CNVD
Hepatocellular carcinoma	16750200	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Bladder cancer	21909424	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	21542898	CNVD
Multiple myeloma	16616336	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46704000-46711000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
2	chr12:46707600-46711800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:46708800-46711800	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr12:46708800-46736200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:46711800-46712000	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr12:46711800-46712000	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr12:46711800-46712200	Enhancers	H1 Cell Line	embryonic stem cell
8	chr12:46711800-46712200	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr12:46711800-46713200	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr12:46711800-46713800	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr12:46711800-46715200	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr12:46711800-46715200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr12:46712000-46712600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr12:46712000-46713000	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr12:46712200-46714000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr12:46712200-46714600	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr12:46712600-46713600	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr12:46712800-46713200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr12:46712800-46713800	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr12:46713000-46713200	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr12:46713200-46713600	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr12:46713200-46714400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr12:46713400-46714600	Enhancers	HUVEC	blood vessel
24	chr12:46713600-46714200	Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr12:46713600-46714200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
26	chr12:46713800-46714000	Enhancers	Brain Anterior Caudate	brain
27	chr12:46713800-46714200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr12:46713800-46714200	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr12:46713800-46714400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr12:46713800-46715000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr12:46714000-46715200	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr12:46714200-46715000	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr12:46714200-46715200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
34	chr12:46714400-46714800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr12:46714400-46715000	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr12:46714400-46715200	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr12:46714600-46715200	Enhancers	H1 Cell Line	embryonic stem cell
38	chr12:46715000-46715200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
39	chr12:46715000-46715200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
40	chr12:46715200-46715800	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr12:46715200-46716000	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr12:46715800-46716200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
43	chr12:46716400-46717800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr12:46717800-46718600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr12:46718600-46719600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
46	chr12:46719600-46724000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links