Variant report

Variant	nsv818921
Chromosome Location	chr12:65017844-65018192
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr12:65017923-65017924	K562	blood:	n/a	n/a
2	CUX1	chr12:65017838-65018037	K562	blood:	n/a	n/a
3	GTF2F1	chr12:65017837-65017857	H1-hESC	embryonic stem cell:	n/a	n/a
4	MXI1	chr12:65018064-65018113	H1-hESC	embryonic stem cell:	n/a	n/a
5	USF1	chr12:65017619-65017978	H1-hESC	embryonic stem cell:	n/a	chr12:65017772-65017793 chr12:65017776-65017789 chr12:65017778-65017787 chr12:65017777-65017786
6	USF1	chr12:65017614-65017978	H1-hESC	embryonic stem cell:	n/a	chr12:65017772-65017793 chr12:65017776-65017789 chr12:65017778-65017787 chr12:65017777-65017786

No.	Distal block	Cell Line	Cell type
1	chr12:64989403..64992125-chr12:65016566..65018354,2	MCF-7	breast:
2	chr12:65017129..65019171-chr12:65067339..65069384,2	MCF-7	breast:
3	chr12:65011462..65014885-chr12:65017332..65020916,6	MCF-7	breast:
4	chr12:65001678..65008078-chr12:65013108..65023657,17	MCF-7	breast:
5	chr12:65017089..65019712-chr12:65042869..65045588,2	MCF-7	breast:
6	chr12:65018029..65021346-chr12:65072247..65076410,6	MCF-7	breast:
7	chr12:65018061..65020835-chr12:65174615..65176151,2	MCF-7	breast:
8	chr12:65001526..65007900-chr12:65015799..65021807,8	K562	blood:
9	chr12:65016442..65019284-chr12:65019658..65023232,4	MCF-7	breast:
10	chr12:65008839..65011429-chr12:65017334..65019705,2	MCF-7	breast:
11	chr12:65018082..65020499-chr12:65056309..65058062,2	MCF-7	breast:
12	chr12:65010556..65012937-chr12:65017376..65021348,4	K562	blood:
13	chr12:65013129..65015693-chr12:65017473..65019068,2	K562	blood:

Variant related genes	Relation type
ENSG00000225195	TF binding region
ENSG00000256670	chromatin interactions
ENSG00000225195	chromatin interactions
ENSG00000153179	chromatin interactions
ENSG00000111490	chromatin interactions

Extended variants
information (count: 13 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1245168	chr12:65017844-65017845	Flanking Active TSS Enhancers Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs538978677	chr12:65017854-65017855	Flanking Active TSS Enhancers Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs139977520	chr12:65017899-65017900	Flanking Active TSS Enhancers Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs554376196	chr12:65017919-65017920	Flanking Active TSS Enhancers Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs574281880	chr12:65017924-65017925	Flanking Active TSS Enhancers Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs116778842	chr12:65017948-65017949	Flanking Active TSS Enhancers Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs572695183	chr12:65018008-65018009	Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs138083982	chr12:65018013-65018014	Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs369112461	chr12:65018023-65018024	Flanking Active TSS Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs7302505	chr12:65018121-65018122	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs11175471	chr12:65018137-65018138	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs11175472	chr12:65018173-65018174	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs2682714	chr12:65018192-65018193	Flanking Active TSS Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	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
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
Breast cancer	16620391	CNVD
Intracranial arachnoid cysts	20187927	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:65006200-65018800	Weak transcription	Fetal Thymus	thymus
2	chr12:65006200-65019000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:65006200-65019000	Weak transcription	NHEK	skin
4	chr12:65006200-65019400	Weak transcription	Psoas Muscle	Psoas
5	chr12:65006600-65018200	Weak transcription	Fetal Intestine Large	intestine
6	chr12:65006800-65031800	Weak transcription	Dnd41	blood
7	chr12:65007000-65018800	Weak transcription	HMEC	breast
8	chr12:65007000-65019200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr12:65008600-65019000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr12:65009200-65019200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr12:65009800-65019200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr12:65009800-65019400	Weak transcription	Fetal Muscle Trunk	muscle
13	chr12:65010000-65023200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr12:65010200-65019400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr12:65010400-65018200	Weak transcription	Colonic Mucosa	Colon
16	chr12:65010400-65019000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr12:65010600-65018800	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr12:65010600-65018800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr12:65010600-65018800	Weak transcription	Fetal Lung	lung
20	chr12:65010600-65019000	Weak transcription	Fetal Stomach	stomach
21	chr12:65010800-65018600	Weak transcription	Fetal Muscle Leg	muscle
22	chr12:65010800-65022200	Weak transcription	Spleen	Spleen
23	chr12:65011000-65018400	Weak transcription	Brain Substantia Nigra	brain
24	chr12:65011200-65018800	Enhancers	Primary B cells from peripheral blood	blood
25	chr12:65011600-65019000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr12:65011800-65019000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr12:65012400-65018200	Weak transcription	Fetal Intestine Small	intestine
28	chr12:65012400-65019200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr12:65012600-65019200	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr12:65013000-65019200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr12:65013200-65019000	Weak transcription	Right Ventricle	heart
32	chr12:65013200-65019200	Weak transcription	Brain Anterior Caudate	brain
33	chr12:65013200-65019400	Weak transcription	Esophagus	oesophagus
34	chr12:65013200-65019400	Weak transcription	Ovary	ovary
35	chr12:65013400-65018200	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr12:65013400-65018400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr12:65013400-65018800	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr12:65013400-65018800	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr12:65013400-65018800	Weak transcription	Osteobl	bone
40	chr12:65013400-65019200	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr12:65013600-65018400	Weak transcription	Brain Hippocampus Middle	brain
42	chr12:65013600-65018400	Weak transcription	Pancreas	Pancrea
43	chr12:65013600-65018800	Enhancers	Primary B cells from cord blood	blood
44	chr12:65013600-65019000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr12:65013600-65019000	Weak transcription	Right Atrium	heart
46	chr12:65013600-65019400	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr12:65013800-65018400	Weak transcription	Adipose Nuclei	Adipose
48	chr12:65013800-65018800	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr12:65014000-65018000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr12:65014000-65018400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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