Variant report

Variant	nsv899167
Chromosome Location	chr12:63795229-63906892
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:63842271..63844496-chr12:63846747..63849454,2	MCF-7	breast:
2	chr12:63808447..63811341-chr3:64933107..64935525,2	MCF-7	breast:
3	chr12:63799854..63801447-chr12:63805061..63807630,2	MCF-7	breast:
4	chr12:63902632..63905089-chr12:63908351..63910373,2	MCF-7	breast:
5	chr12:63893978..63896181-chr12:64171241..64172887,2	K562	blood:
6	chr12:63799854..63801447-chr12:63805061..63807630,2	MCF-7	breast:
7	chr12:63842271..63844496-chr12:63846747..63849454,2	MCF-7	breast:
8	chr12:63793684..63795622-chr12:63796848..63799129,2	K562	blood:
9	chr12:63793684..63795622-chr12:63796848..63799129,2	K562	blood:
10	chr12:63813649..63814184-chr12:64195525..64196396,2	K562	blood:

No data

Extended variants
information (count: 2115 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:2115 , 50 per page) page: 1 2 3 4 5 6 7 ... 43

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs932052	chr12:63795229-63795230	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs575469747	chr12:63795237-63795238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs78750022	chr12:63795254-63795255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs528798445	chr12:63795318-63795319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs373778483	chr12:63795330-63795331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs570223446	chr12:63795343-63795344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs542545297	chr12:63795361-63795362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs117005786	chr12:63795382-63795383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs530575137	chr12:63795393-63795394	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs190241785	chr12:63795396-63795397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs371881749	chr12:63795405-63795406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs182751193	chr12:63795443-63795444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs374606552	chr12:63795451-63795452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs546835867	chr12:63795468-63795469	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs566623642	chr12:63795483-63795484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs369743390	chr12:63795697-63795698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs112395004	chr12:63795759-63795760	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs549309138	chr12:63795813-63795814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs569050346	chr12:63795818-63795819	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs537059002	chr12:63795825-63795826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs539231674	chr12:63795837-63795838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs73321980	chr12:63795862-63795863	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs192744888	chr12:63796063-63796064	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs377710483	chr12:63796102-63796103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs116398132	chr12:63796114-63796115	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs73135721	chr12:63796127-63796128	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs573412014	chr12:63796141-63796142	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs566225451	chr12:63796147-63796148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs141836258	chr12:63796163-63796164	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs562444324	chr12:63796192-63796193	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs115250282	chr12:63796226-63796227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs146940216	chr12:63796257-63796258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs114282316	chr12:63796261-63796262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs540605035	chr12:63796275-63796276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs560647527	chr12:63796349-63796350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs559990610	chr12:63796365-63796366	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs529129457	chr12:63796367-63796368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs548865691	chr12:63796376-63796377	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs569138050	chr12:63796408-63796409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs699625	chr12:63796479-63796480	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs535030720	chr12:63796495-63796496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs550577669	chr12:63796537-63796538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372088561	chr12:63796562-63796563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs137871367	chr12:63796582-63796583	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs552396684	chr12:63796597-63796598	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs553478326	chr12:63796633-63796634	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs143551546	chr12:63796726-63796727	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs569120609	chr12:63796760-63796761	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs555631763	chr12:63796802-63796803	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs531745269	chr12:63796816-63796817	Enhancers 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
Lissencephaly	21572526	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
Phyllodes tumor	17334353	CNVD
Glaucoma	21310917	CNVD
Breast cancer	16272173	CNVD
Mental retardation	19951919	CNVD
Glaucoma	21447600	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Developmental delay	21267005	CNVD
12q14 microdeletion syndrome	21267005	CNVD
Developmental delay	19277063	CNVD
Dwarfism	19277063	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
Multiple myeloma	16616336	CNVD
Lung cancer	16773561	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Breast cancer	21364760	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
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Ovarian neoplasms	16753589	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Breast cancer	16620391	CNVD

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63793800-63795800	Enhancers	HUVEC	blood vessel
2	chr12:63794600-63795600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr12:63795600-63795800	Enhancers	Sigmoid Colon	Sigmoid Colon
4	chr12:63795600-63796400	Enhancers	Fetal Intestine Large	intestine
5	chr12:63796400-63797400	Weak transcription	Fetal Intestine Large	intestine
6	chr12:63796600-63798000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr12:63797000-63797600	Enhancers	NHDF-Ad	bronchial
8	chr12:63797200-63797600	Enhancers	Aorta	Aorta
9	chr12:63797400-63797600	Enhancers	Fetal Intestine Large	intestine
10	chr12:63797600-63802600	Weak transcription	Fetal Intestine Large	intestine
11	chr12:63801800-63807600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr12:63802000-63804200	Enhancers	Dnd41	blood
13	chr12:63802200-63803600	Enhancers	Fetal Heart	heart
14	chr12:63802200-63805800	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr12:63802200-63807000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr12:63802400-63802600	Enhancers	Primary T cells from cord blood	blood
17	chr12:63802400-63802600	Enhancers	Left Ventricle	heart
18	chr12:63802400-63804000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr12:63802600-63803000	Enhancers	Fetal Intestine Large	intestine
20	chr12:63802600-63803200	Weak transcription	Primary T cells from cord blood	blood
21	chr12:63802800-63803200	Enhancers	Fetal Intestine Small	intestine
22	chr12:63802800-63804200	Weak transcription	Left Ventricle	heart
23	chr12:63803000-63805200	Enhancers	Primary hematopoietic stem cells	blood
24	chr12:63803000-63805400	Enhancers	HUVEC	blood vessel
25	chr12:63803200-63803800	Enhancers	Primary T cells from cord blood	blood
26	chr12:63803400-63805200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr12:63803800-63804200	Flanking Active TSS	Primary T cells from cord blood	blood
28	chr12:63804000-63804400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr12:63804000-63804800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr12:63804200-63804400	Flanking Active TSS	Dnd41	blood
31	chr12:63804200-63804800	Enhancers	Fetal Muscle Leg	muscle
32	chr12:63804200-63804800	Enhancers	Left Ventricle	heart
33	chr12:63804200-63805000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr12:63804200-63805000	Enhancers	Adipose Nuclei	Adipose
35	chr12:63804200-63805800	Enhancers	Primary T cells from cord blood	blood
36	chr12:63804400-63804600	Enhancers	Dnd41	blood
37	chr12:63804400-63805800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr12:63804600-63804800	Flanking Active TSS	Dnd41	blood
39	chr12:63804800-63806600	Enhancers	Dnd41	blood
40	chr12:63808800-63809600	ZNF genes & repeats	Pancreas	Pancrea
41	chr12:63808800-63809800	ZNF genes & repeats	Dnd41	blood
42	chr12:63809000-63809800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
43	chr12:63809000-63809800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
44	chr12:63809200-63809600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr12:63809600-63822800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr12:63809800-63814200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr12:63813200-63813400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr12:63813200-63814200	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr12:63813400-63814000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
50	chr12:63813400-63814000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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