Variant report

Variant	nsv975433
Chromosome Location	chr12:542421-546239
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	CTCF	chr12:544431-544532	GM20000	blood:	n/a	n/a
2	GATA3	chr12:545956-546562	SH-SY5Y	brain:	n/a	chr12:546220-546227 chr12:546220-546229 chr12:546212-546222 chr12:546220-546227 chr12:546216-546232 chr12:546219-546229 chr12:546213-546234 chr12:546216-546227 chr12:546220-546227
3	MAFF	chr12:542870-543028	HepG2	liver:	n/a	n/a
4	MAFF	chr12:542929-542967	K562	blood:	n/a	n/a
5	MAFK	chr12:542799-543098	HepG2	liver:	n/a	chr12:542948-542959
6	MAFK	chr12:542940-542961	Hela-S3	cervix:	n/a	chr12:542948-542959
7	MAFK	chr12:542844-543073	IMR90	lung:	n/a	chr12:542948-542959
8	NR3C1	chr12:542982-543299	A549	lung:	n/a	chr12:543266-543292 chr12:543270-543288 chr12:543266-543292 chr12:543266-543292
9	NR3C1	chr12:543084-543248	A549	lung:	n/a	n/a
10	POLR2A	chr12:545942-546058	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:541135..544043-chr12:1097640..1100614,2	K562	blood:

Variant related genes	Relation type
CCDC77	TF binding region
ENSG00000250132	chromatin interactions
ENSG00000082805	chromatin interactions
ENSG00000002016	chromatin interactions

Extended variants
information (count: 174 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:174 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200827188	chr12:542453-542454	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs565423045	chr12:542467-542468	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs74411946	chr12:542511-542512	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs117961773	chr12:542516-542517	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs564053294	chr12:542582-542583	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs190176438	chr12:542622-542623	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs546414996	chr12:542626-542627	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs149213419	chr12:542634-542635	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs530253310	chr12:542662-542663	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs117527971	chr12:542692-542693	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs570084915	chr12:542763-542764	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs114866093	chr12:542791-542792	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs201409751	chr12:542818-542819	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs76685393	chr12:542820-542821	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs74643579	chr12:542830-542831	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs182390194	chr12:542844-542845	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs532852394	chr12:542862-542863	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs571191680	chr12:542918-542919	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs145129469	chr12:542941-542942	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs186866812	chr12:542951-542952	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs574945437	chr12:542974-542975	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs11062957	chr12:542975-542976	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs191278822	chr12:543000-543001	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs556804311	chr12:543066-543067	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs535402657	chr12:543203-543204	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs11062959	chr12:543206-543207	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs77719118	chr12:543217-543218	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs563715563	chr12:543224-543225	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs138960615	chr12:543240-543241	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs142043286	chr12:543280-543281	Weak transcription Strong transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs568144583	chr12:543303-543304	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs143099464	chr12:543328-543329	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs529081503	chr12:543329-543330	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs550722929	chr12:543336-543337	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs35839353	chr12:543338-543339	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs73043880	chr12:543393-543394	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs183401896	chr12:543399-543400	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs73590307	chr12:543437-543438	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs552652049	chr12:543453-543454	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs570851324	chr12:543480-543481	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs534977209	chr12:543482-543483	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs547323401	chr12:543498-543499	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs369303850	chr12:543515-543516	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs372774800	chr12:543519-543520	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs537288173	chr12:543520-543521	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs77581431	chr12:543535-543536	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs61916592	chr12:543537-543538	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs553324546	chr12:543544-543545	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs568712073	chr12:543557-543558	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs535685165	chr12:543574-543575	Weak transcription Strong transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Cancer	20164920	CNVD
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
small cell lung cancer	20016488	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	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
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Autism	22495309	CNVD
Ovarian cancer	21720365	CNVD
Myelodysplastic syndrome	21251322	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Cancer	20164919	CNVD
small cell lung cancer	17426248	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:207 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:511600-544600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr12:512000-545800	Weak transcription	HMEC	breast
3	chr12:512000-549600	Weak transcription	Colon Smooth Muscle	Colon
4	chr12:512200-557800	Weak transcription	Fetal Heart	heart
5	chr12:512600-552200	Weak transcription	Fetal Brain Male	brain
6	chr12:522000-551800	Weak transcription	NHEK	skin
7	chr12:524400-549800	Weak transcription	NHDF-Ad	bronchial
8	chr12:524400-550600	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr12:524400-553600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr12:524400-556800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr12:526200-557800	Weak transcription	Stomach Mucosa	stomach
12	chr12:526400-545600	Weak transcription	Psoas Muscle	Psoas
13	chr12:528000-552600	Weak transcription	Osteobl	bone
14	chr12:528600-546000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr12:528600-546200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr12:528600-549400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr12:528600-550800	Weak transcription	Fetal Kidney	kidney
18	chr12:528600-551800	Weak transcription	Aorta	Aorta
19	chr12:528600-552800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr12:528600-560200	Weak transcription	Colonic Mucosa	Colon
21	chr12:528600-562800	Weak transcription	Right Ventricle	heart
22	chr12:531200-551000	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr12:531200-551400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr12:531200-551600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr12:531400-548000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr12:531400-551200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr12:531400-551400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
28	chr12:531400-551400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr12:531400-551600	Strong transcription	H1 Cell Line	embryonic stem cell
30	chr12:531400-551600	Strong transcription	HUES6 Cell Line	embryonic stem cell
31	chr12:531400-551600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr12:531400-551600	Strong transcription	Dnd41	blood
33	chr12:531400-552000	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr12:531400-552000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr12:531400-552000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr12:531400-552400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr12:532000-554400	Weak transcription	Small Intestine	intestine
38	chr12:532600-555400	Weak transcription	K562	blood
39	chr12:534400-542600	Strong transcription	Brain Germinal Matrix	brain
40	chr12:534600-542800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr12:534600-552200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr12:534800-551600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr12:534800-554200	Weak transcription	Esophagus	oesophagus
44	chr12:535000-558000	Weak transcription	Gastric	stomach
45	chr12:535400-551800	Weak transcription	Spleen	Spleen
46	chr12:535600-552600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr12:535800-553600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr12:536800-552000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr12:537000-542600	Strong transcription	Fetal Muscle Trunk	muscle
50	chr12:537000-542800	Strong transcription	HepG2	liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links