Variant report

Variant	nsv1053848
Chromosome Location	chr12:73226400-73367875
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:16)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:73361630..73364620-chr12:73364832..73367404,2	K562	blood:
2	chr12:73280330..73282647-chr12:73282776..73285288,2	K562	blood:
3	chr12:73279777..73282647-chr12:73282776..73285810,4	K562	blood:
4	chr12:73360278..73363130-chr12:73365904..73367534,2	K562	blood:
5	chr12:73276124..73278278-chr12:73280088..73282013,2	K562	blood:
6	chr12:73329562..73331929-chr12:73334253..73335865,2	MCF-7	breast:
7	chr12:73279960..73282832-chr12:73288146..73290237,2	K562	blood:
8	chr12:73360278..73363130-chr12:73365904..73367534,2	K562	blood:
9	chr12:73280330..73282647-chr12:73282776..73285288,2	K562	blood:
10	chr12:73278361..73280409-chr12:73393211..73395574,2	K562	blood:
11	chr12:73279777..73282647-chr12:73282776..73285810,4	K562	blood:
12	chr12:73276124..73278278-chr12:73280088..73282013,2	K562	blood:
13	chr12:73329562..73331929-chr12:73334253..73335865,2	MCF-7	breast:
14	chr1:53191543..53194375-chr12:73227297..73229475,2	MCF-7	breast:
15	chr12:73279960..73282832-chr12:73288146..73290237,2	K562	blood:
16	chr12:73361630..73364620-chr12:73364832..73367404,2	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TRHDE-1	chr12:73362420-73362470	XLOC_009803
2	lnc-TRHDE-1	chr12:73367333-73367380	XLOC_009803
3	lnc-TRHDE-1	chr12:73318544-73318675	XLOC_009803
4	lnc-TRHDE-1	chr12:73362033-73362097	XLOC_009803
5	lnc-TRHDE-1	chr12:73352845-73352944	XLOC_009803

No data

Variant related genes	Relation type
ENSG00000162378	chromatin interactions
UBE2Q1	miRNA target sites
UBE2W	miRNA target sites
UBE2R2	miRNA target sites

Extended variants
information (count: 1255 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:1255 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548155000	chr12:73226404-73226405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs141736434	chr12:73226455-73226456	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs527570630	chr12:73226456-73226457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs552232799	chr12:73226467-73226468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs548694905	chr12:73226474-73226475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs373439580	chr12:73226517-73226518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs147096260	chr12:73226523-73226524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs117015865	chr12:73226545-73226546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs568137169	chr12:73226554-73226555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs555463852	chr12:73226564-73226565	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs568991807	chr12:73226583-73226584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs148166161	chr12:73226587-73226588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs553789050	chr12:73226598-73226599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs572113141	chr12:73226608-73226609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs540919098	chr12:73226689-73226690	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs75324363	chr12:73226702-73226703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs577476267	chr12:73226739-73226740	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs5799094	chr12:73226778-73226779	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs544451409	chr12:73226836-73226837	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs527317047	chr12:73226840-73226841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs75136846	chr12:73226928-73226929	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs185813665	chr12:73226942-73226943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs370890949	chr12:73226972-73226973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs150695582	chr12:73226982-73226983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs557816347	chr12:73226986-73226987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs560109116	chr12:73226994-73226995	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs527630394	chr12:73226998-73226999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs369576671	chr12:73227017-73227018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs552547494	chr12:73227033-73227034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs188749102	chr12:73227069-73227070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs531657756	chr12:73227098-73227099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs549690323	chr12:73227116-73227117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs192814524	chr12:73227118-73227119	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs138677537	chr12:73227188-73227189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs149355993	chr12:73227338-73227339	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs565785099	chr12:73227411-73227412	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs114607337	chr12:73227443-73227444	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs146321918	chr12:73227479-73227480	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs183636802	chr12:73227522-73227523	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs540200875	chr12:73227533-73227534	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs12321847	chr12:73227544-73227545	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs12321853	chr12:73227583-73227584	Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs144085676	chr12:73227596-73227597	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs111654411	chr12:73227664-73227665	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs553930417	chr12:73227668-73227669	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs373278392	chr12:73227669-73227670	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs560170442	chr12:73227674-73227675	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs572515977	chr12:73227685-73227686	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs146012785	chr12:73227781-73227782	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs187998554	chr12:73227789-73227790	Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
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
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	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
Lung cancer	18438408	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16620391	CNVD
Disease	21505450	CNVD
craniofacial dysmorphism	21918468	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Autism	20685689	CNVD
Urothelial cell carcinoma	18451213	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	22032731	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
Hodgkin''s lymphoma	18641027	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:73216000-73227000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:73222800-73226600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr12:73222800-73227400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr12:73226200-73227200	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr12:73226600-73227800	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr12:73226800-73227600	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr12:73226800-73227600	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr12:73227000-73227200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:73227200-73227600	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr12:73227400-73228000	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr12:73232600-73234400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr12:73232800-73234400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr12:73233200-73234600	Enhancers	Primary hematopoietic stem cells	blood
14	chr12:73233600-73233800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr12:73251200-73251400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
16	chr12:73262200-73262400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr12:73262400-73262600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr12:73262600-73266000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr12:73262800-73263000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr12:73262800-73263200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr12:73263000-73265600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr12:73263200-73266800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr12:73265600-73266400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr12:73265600-73267000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr12:73265600-73267200	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr12:73265800-73266200	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr12:73265800-73266200	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr12:73265800-73266600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:73265800-73267400	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr12:73265800-73267400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr12:73265800-73267600	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr12:73266000-73266600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr12:73266000-73266600	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr12:73266000-73267000	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr12:73266200-73266400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr12:73266200-73266600	Active TSS	ES-I3 Cell Line	embryonic stem cell
37	chr12:73266200-73266600	Enhancers	Fetal Kidney	kidney
38	chr12:73266200-73267000	Enhancers	H9 Cell Line	embryonic stem cell
39	chr12:73266400-73266600	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr12:73266400-73267400	Enhancers	H1 Cell Line	embryonic stem cell
41	chr12:73266600-73266800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
42	chr12:73266600-73267200	Active TSS	Fetal Kidney	kidney
43	chr12:73266800-73267000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr12:73266800-73267400	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr12:73266800-73267400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr12:73267200-73267400	Flanking Bivalent TSS/Enh	Fetal Kidney	kidney
47	chr12:73267400-73273800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr12:73273800-73274200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
49	chr12:73277200-73277400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr12:73277400-73278000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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