Variant report

Variant	nsv983262
Chromosome Location	chr12:1864626-1867474
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:1866925-1867000	K562	blood:	n/a	n/a
2	POLR2A	chr12:1867029-1867043	K562	blood:	n/a	n/a
3	POLR2A	chr12:1866839-1866860	MCF-7	breast:	n/a	n/a
4	POLR2A	chr12:1866941-1867079	MCF-7	breast:	n/a	n/a
5	POLR2A	chr12:1866863-1866873	MCF-7	breast:	n/a	n/a
6	POLR2A	chr12:1865910-1866062	K562	blood:	n/a	n/a
7	POLR2A	chr12:1866877-1866895	HepG2	liver:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:1856721..1858693-chr12:1863172..1864680,2	MCF-7	breast:
2	chr12:1798163..1800510-chr12:1865299..1867613,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CACNA2D4-1	chr12:1866397-1867177	NONHSAT025414

No data

Variant related genes	Relation type
ADIPOR2	TF binding region
RPS4XP14	TF binding region
ENSG00000006831	chromatin interactions

Extended variants
information (count: 94 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:94 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191507765	chr12:1864634-1864635	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs573890452	chr12:1864673-1864674	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs138028846	chr12:1864674-1864675	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs562567440	chr12:1864681-1864682	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs184027202	chr12:1864725-1864726	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs551076314	chr12:1864746-1864747	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs113860197	chr12:1864749-1864750	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs559788460	chr12:1864765-1864766	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs527292775	chr12:1864766-1864767	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs548527923	chr12:1864806-1864807	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs567251924	chr12:1864915-1864916	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs118185878	chr12:1864994-1864995	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs147193760	chr12:1865000-1865001	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs189880463	chr12:1865070-1865071	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs181480592	chr12:1865075-1865076	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558281913	chr12:1865076-1865077	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs368421490	chr12:1865077-1865078	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573336688	chr12:1865278-1865279	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs578175210	chr12:1865326-1865327	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs534279764	chr12:1865347-1865348	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs555842807	chr12:1865350-1865351	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs369657891	chr12:1865415-1865416	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs573953742	chr12:1865441-1865442	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs186930788	chr12:1865461-1865462	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs7978251	chr12:1865479-1865480	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs190127096	chr12:1865506-1865507	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs544757904	chr12:1865525-1865526	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs559824781	chr12:1865559-1865560	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs527423632	chr12:1865560-1865561	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs575424627	chr12:1865572-1865573	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs7978362	chr12:1865574-1865575	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs373343706	chr12:1865577-1865578	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs377189967	chr12:1865618-1865619	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs71055194	chr12:1865637-1865638	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs527622676	chr12:1865664-1865665	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs181813783	chr12:1865740-1865741	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs561001471	chr12:1865743-1865744	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs186360560	chr12:1865781-1865782	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs35526308	chr12:1865816-1865817	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs551012517	chr12:1865900-1865901	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs569489691	chr12:1865908-1865909	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs11061973	chr12:1865936-1865937	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs552046197	chr12:1865950-1865951	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs370078381	chr12:1865969-1865970	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs189587229	chr12:1865996-1865997	Weak transcription Strong transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs534314846	chr12:1866095-1866096	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs67365540	chr12:1866103-1866104	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs144506160	chr12:1866114-1866115	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs538210642	chr12:1866116-1866117	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs556188469	chr12:1866162-1866163	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Glaucoma	21310917	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Squamous cell cancer	19607727	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Mental retardation	17847001	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ovarian cancer	20844748	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	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
Testicular germ cell tumor	18059402	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Ovarian cancer	21720365	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:251 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1816200-1866400	Weak transcription	Esophagus	oesophagus
2	chr12:1816200-1897400	Weak transcription	Aorta	Aorta
3	chr12:1823000-1866600	Weak transcription	Gastric	stomach
4	chr12:1824000-1866600	Weak transcription	HSMM	muscle
5	chr12:1826000-1885400	Weak transcription	NH-A	brain
6	chr12:1845600-1885200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:1847600-1885200	Weak transcription	Right Atrium	heart
8	chr12:1849800-1868400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr12:1849800-1868800	Weak transcription	Pancreas	Pancrea
10	chr12:1849800-1905600	Weak transcription	Small Intestine	intestine
11	chr12:1850000-1866600	Weak transcription	Fetal Lung	lung
12	chr12:1850200-1865800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr12:1850200-1885200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr12:1850400-1870400	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr12:1850400-1904800	Weak transcription	Fetal Kidney	kidney
16	chr12:1850800-1885200	Weak transcription	Right Ventricle	heart
17	chr12:1851000-1866400	Weak transcription	NHLF	lung
18	chr12:1851400-1866600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr12:1851600-1866400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr12:1851800-1876600	Weak transcription	Stomach Mucosa	stomach
21	chr12:1854600-1870400	Weak transcription	HSMMtube	muscle
22	chr12:1856000-1866400	Weak transcription	HUVEC	blood vessel
23	chr12:1856600-1872000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr12:1857200-1865800	Weak transcription	Primary B cells from cord blood	blood
25	chr12:1857200-1866400	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr12:1857200-1870000	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr12:1857200-1892800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr12:1857200-1893400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr12:1857400-1868000	Weak transcription	Fetal Brain Female	brain
30	chr12:1858200-1866200	Weak transcription	Hela-S3	cervix
31	chr12:1858200-1866400	Weak transcription	Fetal Muscle Leg	muscle
32	chr12:1858200-1866400	Weak transcription	Lung	lung
33	chr12:1858200-1866400	Weak transcription	Spleen	Spleen
34	chr12:1858400-1868000	Weak transcription	Osteobl	bone
35	chr12:1858400-1869800	Weak transcription	NHDF-Ad	bronchial
36	chr12:1858600-1865800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr12:1859200-1866600	Weak transcription	Psoas Muscle	Psoas
38	chr12:1860400-1869600	Weak transcription	K562	blood
39	chr12:1861200-1865800	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr12:1861400-1866200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr12:1861600-1869800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr12:1862000-1894800	Weak transcription	Colonic Mucosa	Colon
43	chr12:1862600-1866400	Weak transcription	Brain Cingulate Gyrus	brain
44	chr12:1862600-1866600	Weak transcription	Brain Anterior Caudate	brain
45	chr12:1862600-1874200	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr12:1862800-1866200	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr12:1862800-1866400	Weak transcription	Brain Angular Gyrus	brain
48	chr12:1863000-1868400	Strong transcription	Dnd41	blood
49	chr12:1863000-1882000	Weak transcription	Rectal Smooth Muscle	rectum
50	chr12:1863200-1865200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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