Variant report

Variant	nsv899278
Chromosome Location	chr12:73841211-73977563
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:6)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:73924250..73927148-chr12:73929034..73931250,2	K562	blood:
2	chr12:73924250..73927148-chr12:73929034..73931250,2	K562	blood:
3	chr12:73946481..73947983-chr12:73948607..73951513,2	K562	blood:
4	chr12:73941837..73944242-chr9:86536650..86538183,2	MCF-7	breast:
5	chr12:73908195..73908905-chr12:74049929..74050461,2	MCF-7	breast:
6	chr12:73946481..73947983-chr12:73948607..73951513,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TRHDE-4	chr12:73930540-73931332	l_679_chr12:73914765-73931279_testes
2	lnc-TRHDE-4	chr12:73914766-73915164	l_679_chr12:73914765-73931279_testes
3	lnc-KCNC2-4	chr12:73864576-73864610	ENSG00000258109

No data

Variant related genes	Relation type
PPP6C	miRNA target sites

Extended variants
information (count: 1301 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:1301 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs998056	chr12:73841211-73841212	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs532747074	chr12:73841212-73841213	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs573105676	chr12:73841221-73841222	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs544969716	chr12:73841320-73841321	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs377370885	chr12:73841322-73841323	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs142472066	chr12:73841328-73841329	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs554875423	chr12:73841388-73841389	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs76253188	chr12:73841424-73841425	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs146868991	chr12:73841438-73841439	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs7486038	chr12:73841463-73841464	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs139529982	chr12:73841508-73841509	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs556837316	chr12:73841524-73841525	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs114035741	chr12:73841550-73841551	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs567018831	chr12:73841634-73841635	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs144179945	chr12:73841642-73841643	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs146577476	chr12:73841652-73841653	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs188502783	chr12:73841669-73841670	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs73339192	chr12:73841701-73841702	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs181299656	chr12:73841722-73841723	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573680437	chr12:73841733-73841734	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs545068827	chr12:73841786-73841787	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536021637	chr12:73841791-73841792	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184307063	chr12:73841792-73841793	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs117937223	chr12:73841813-73841814	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs188267067	chr12:73841834-73841835	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs563390181	chr12:73841923-73841924	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs564871999	chr12:73841936-73841937	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs180973643	chr12:73841937-73841938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs544245863	chr12:73841964-73841965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs549114937	chr12:73841966-73841967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs375301359	chr12:73841982-73841983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs561183914	chr12:73841988-73841989	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs561668938	chr12:73842007-73842008	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs369410307	chr12:73842021-73842022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs530293053	chr12:73842028-73842029	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs530228165	chr12:73842049-73842050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs74583524	chr12:73842098-73842099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs560714485	chr12:73842145-73842146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs7966113	chr12:73842169-73842170	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs552893226	chr12:73842218-73842219	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs569614315	chr12:73842264-73842265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs35137056	chr12:73842279-73842280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs111701512	chr12:73842320-73842321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs75959838	chr12:73842363-73842364	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs150215582	chr12:73842380-73842381	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs567217838	chr12:73842412-73842413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs79485513	chr12:73842472-73842473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs552823189	chr12:73842499-73842500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs566315399	chr12:73842607-73842608	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs386764240	chr12:73842618-73842619	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
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
Breast cancer	21509527	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Osteosarcoma	21215367	CNVD

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:73840000-73843000	Enhancers	Primary B cells from cord blood	blood
2	chr12:73840400-73842400	Weak transcription	Primary B cells from peripheral blood	blood
3	chr12:73841200-73841800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:73841800-73842800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr12:73842400-73843600	Enhancers	Primary B cells from peripheral blood	blood
6	chr12:73842800-73843000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr12:73843000-73843400	Flanking Active TSS	Primary B cells from cord blood	blood
8	chr12:73843000-73844000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr12:73843400-73844000	Enhancers	Primary B cells from cord blood	blood
10	chr12:73843600-73846800	Weak transcription	Primary B cells from peripheral blood	blood
11	chr12:73844000-73846600	Weak transcription	Primary B cells from cord blood	blood
12	chr12:73846600-73846800	Active TSS	Colon Smooth Muscle	Colon
13	chr12:73846600-73847000	Active TSS	Liver	Liver
14	chr12:73846600-73847200	Enhancers	Primary B cells from cord blood	blood
15	chr12:73846800-73847000	Flanking Active TSS	Colon Smooth Muscle	Colon
16	chr12:73846800-73847200	Enhancers	Primary B cells from peripheral blood	blood
17	chr12:73846800-73847200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr12:73847800-73848400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr12:73848800-73849800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr12:73849800-73850800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr12:73849800-73852000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr12:73851400-73851600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
23	chr12:73851400-73851600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
24	chr12:73852000-73852200	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr12:73855400-73859000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr12:73858800-73859400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
27	chr12:73858800-73859400	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr12:73859000-73859200	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr12:73859000-73859400	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr12:73859000-73859400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr12:73859000-73859400	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr12:73859000-73859400	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr12:73859000-73859400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr12:73859000-73859400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr12:73859000-73859400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr12:73859000-73859600	Enhancers	H1 Cell Line	embryonic stem cell
37	chr12:73872600-73873000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr12:73873000-73874600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr12:73874600-73874800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr12:73879000-73881000	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr12:73879200-73880600	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr12:73879400-73880600	Enhancers	iPS-18 Cell Line	embryonic stem cell
43	chr12:73879400-73880800	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr12:73879400-73881400	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr12:73879400-73881400	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr12:73879600-73881000	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr12:73880000-73880400	Enhancers	H9 Cell Line	embryonic stem cell
48	chr12:73880000-73880400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr12:73880000-73880600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr12:73880200-73880800	Enhancers	H1 Cell Line	embryonic stem cell

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