Variant report

Variant	nsv469461
Chromosome Location	chr12:67007070-67038595
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:8)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:67014224..67016972-chr12:67017944..67019515,2	K562	blood:
2	chr12:67022263..67022981-chr3:64016064..64016624,2	MCF-7	breast:
3	chr12:67026208..67028872-chr12:67043612..67046300,2	K562	blood:
4	chr12:67032690..67034327-chr12:67037087..67039046,2	MCF-7	breast:
5	chr12:67016879..67019379-chr12:67021343..67023030,2	MCF-7	breast:
6	chr12:67014224..67016972-chr12:67017944..67019515,2	K562	blood:
7	chr12:67016879..67019379-chr12:67021343..67023030,2	MCF-7	breast:
8	chr12:67032690..67034327-chr12:67037087..67039046,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TMBIM4-3	chr12:67028548-67028694	l_670_chr12:67012838-67028694_prostate
2	lnc-TMBIM4-3	chr12:67012839-67013711	l_670_chr12:67012838-67028694_prostate
3	lnc-HELB-4	chr12:67029771-67029989	l_671_chr12:67024712-67029989_testes
4	lnc-HELB-4	chr12:67024713-67024950	l_671_chr12:67024712-67029989_testes

No data

Extended variants
information (count: 1146 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:1146 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12422746	chr12:67007070-67007071	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs573562219	chr12:67007113-67007114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs11176318	chr12:67007144-67007145	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs112824818	chr12:67007145-67007146	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs374643164	chr12:67007212-67007213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs532824183	chr12:67007213-67007214	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs544706785	chr12:67007232-67007233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs79090288	chr12:67007259-67007260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs531578354	chr12:67007286-67007287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs562533392	chr12:67007327-67007328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs551147672	chr12:67007366-67007367	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs554510696	chr12:67007387-67007388	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs567475364	chr12:67007409-67007410	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs528407198	chr12:67007504-67007505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs546640897	chr12:67007505-67007506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs188446666	chr12:67007528-67007529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs113413975	chr12:67007545-67007546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs142549213	chr12:67007565-67007566	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs150105832	chr12:67007577-67007578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs191730734	chr12:67007584-67007585	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs373608330	chr12:67007603-67007604	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs34359969	chr12:67007614-67007615	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
23	rs555168735	chr12:67007618-67007619	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs182699325	chr12:67007659-67007660	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs575930646	chr12:67007668-67007669	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs11176319	chr12:67007692-67007693	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs112600711	chr12:67007697-67007698	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs577266286	chr12:67007711-67007712	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544694287	chr12:67007851-67007852	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs575921642	chr12:67007852-67007853	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs530708454	chr12:67007891-67007892	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs542429290	chr12:67007902-67007903	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs4244066	chr12:67007908-67007909	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs528332116	chr12:67007938-67007939	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs6650228	chr12:67007941-67007942	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs565272938	chr12:67007943-67007944	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs138499918	chr12:67007967-67007968	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs551074843	chr12:67007982-67007983	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs149279503	chr12:67007990-67007991	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs536768249	chr12:67008009-67008010	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs548454340	chr12:67008129-67008130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs567058281	chr12:67008130-67008131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs574862916	chr12:67008136-67008137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs111509347	chr12:67008138-67008139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs10878468	chr12:67008152-67008153	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs80179001	chr12:67008218-67008219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs577202125	chr12:67008239-67008240	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs11176320	chr12:67008267-67008268	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs556558925	chr12:67008300-67008301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs144431925	chr12:67008305-67008306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
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
Lung cancer	18438408	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Leukemia	18628472	CNVD
Fibroblasts	20926602	CNVD
Metanephric adenoma	20802469	CNVD
Follicular lymphoma	18703704	CNVD
Acute myeloid leukemia	21251322	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Mental retardation	17220210	CNVD
Osteopoikilosis	17220210	CNVD
short stature	17220210	CNVD
Burkitt''s lymphoma	20823134	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Ovarian neoplasms	16753589	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16620391	CNVD
Neuroticism	17667963	CNVD
Breast cancer	21364760	CNVD
Urothelial cell carcinoma	18451213	CNVD
Breast cancer	22048815	CNVD
Congenital anomalies of the kidney and urinary tract	21113617	CNVD
Glioblastoma multiforme	22291905	CNVD
Glioblastoma multiforme	19435819	CNVD
Myelofibrosis	22110671	CNVD
Myxofibrosarcoma	16751306	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Lung cancer	17925434	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Disease	21505450	CNVD
craniofacial dysmorphism	21918468	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD
Osteosarcoma	21215367	CNVD

Chromatin state (count:269 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:66996600-67007600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr12:66997400-67007600	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr12:67002200-67007200	Weak transcription	Fetal Brain Female	brain
4	chr12:67006400-67009600	Weak transcription	GM12878-XiMat	blood
5	chr12:67007000-67007800	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr12:67007000-67007800	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr12:67007200-67007400	Enhancers	Fetal Brain Female	brain
8	chr12:67007400-67007600	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr12:67007400-67008000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:67007600-67007800	Enhancers	H9 Cell Line	embryonic stem cell
11	chr12:67007600-67007800	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr12:67007600-67007800	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr12:67007600-67009800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr12:67007800-67008000	Enhancers	H1 Cell Line	embryonic stem cell
15	chr12:67007800-67008600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr12:67007800-67010200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr12:67007800-67010200	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr12:67007800-67010200	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr12:67008000-67010200	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr12:67008000-67010200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr12:67008200-67010000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr12:67008600-67009000	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr12:67009000-67010200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr12:67009400-67015400	Enhancers	Dnd41	blood
25	chr12:67009600-67015400	Enhancers	GM12878-XiMat	blood
26	chr12:67009800-67011000	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr12:67010000-67011000	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr12:67010200-67010600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr12:67010200-67010800	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr12:67010200-67010800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr12:67010200-67010800	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr12:67010200-67011000	Enhancers	H1 Cell Line	embryonic stem cell
33	chr12:67010200-67011000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr12:67010200-67011000	Enhancers	H9 Cell Line	embryonic stem cell
35	chr12:67010200-67011000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr12:67010200-67011000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr12:67010200-67011000	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr12:67010200-67011000	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr12:67010200-67011000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr12:67010200-67011000	Enhancers	Primary B cells from cord blood	blood
41	chr12:67010200-67011000	Enhancers	Primary B cells from peripheral blood	blood
42	chr12:67010200-67011000	Enhancers	Fetal Thymus	thymus
43	chr12:67010200-67011200	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr12:67010200-67011200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr12:67010400-67010600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr12:67010400-67010800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr12:67010400-67010800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr12:67010400-67010800	Enhancers	Thymus	Thymus
49	chr12:67010400-67011000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr12:67010400-67011000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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