Variant report

Variant	nsv976759
Chromosome Location	chr12:118628348-118632005
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	GATA3	chr12:118630242-118630442	SH-SY5Y	brain:	n/a	n/a
2	GATA3	chr12:118628325-118628728	SH-SY5Y	brain:	n/a	n/a
3	MAX	chr12:118627477-118628628	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr12:118628190-118628378	SK-N-SH	brain:	n/a	n/a
5	POLR2A	chr12:118629845-118630031	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr12:118628736-118628815	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr12:118628102-118628589	SK-N-SH	brain:	n/a	n/a
8	POLR2A	chr12:118627400-118628535	H1-neurons	neurons:	n/a	n/a
9	POLR2A	chr12:118628070-118628405	PFSK-1	brain:	n/a	n/a
10	POLR2A	chr12:118628059-118628538	H1-neurons	neurons:	n/a	n/a
11	POLR2A	chr12:118628124-118628493	U87	brain:	n/a	n/a
12	REST	chr12:118626275-118628701	H1-neurons	neurons:	n/a	chr12:118626360-118626373 chr12:118626360-118626373
13	REST	chr12:118627494-118628445	H1-neurons	neurons:	n/a	n/a
14	STAT3	chr12:118629630-118629761	GM12878	blood:	n/a	n/a
15	TAF1	chr12:118628084-118628439	H1-neurons	neurons:	n/a	n/a
16	TAF1	chr12:118627390-118628517	H1-neurons	neurons:	n/a	n/a
17	ZNF384	chr12:118628191-118628602	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:118630878..118633154-chr12:118640207..118642397,2	K562	blood:
2	chr12:118629722..118631578-chr12:118673558..118677291,3	K562	blood:
3	chr12:118629113..118632294-chr12:118813183..118816141,3	MCF-7	breast:
4	chr12:118626372..118631667-chr12:118631943..118636287,5	K562	blood:
5	chr12:118629679..118631929-chr12:118813137..118814645,2	MCF-7	breast:

Variant related genes	Relation type
TAOK3	TF binding region
ENSG00000111707	chromatin interactions
ENSG00000270482	chromatin interactions
ENSG00000135090	chromatin interactions

Extended variants
information (count: 115 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:115 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543341075	chr12:118628370-118628371	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs369203369	chr12:118628379-118628380	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs577733992	chr12:118628390-118628391	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs559818725	chr12:118628403-118628404	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs145458877	chr12:118628416-118628417	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs147655649	chr12:118628421-118628422	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs12366769	chr12:118628495-118628496	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs192922032	chr12:118628519-118628520	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs374367372	chr12:118628544-118628545	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs112261765	chr12:118628575-118628576	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs550416874	chr12:118628586-118628587	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs563139286	chr12:118628607-118628608	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs532089659	chr12:118628635-118628636	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs567945039	chr12:118628698-118628699	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs370480954	chr12:118628718-118628719	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs543276174	chr12:118628719-118628720	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs551875024	chr12:118628724-118628725	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs367883714	chr12:118628736-118628737	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs374150874	chr12:118628745-118628746	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs184308733	chr12:118628758-118628759	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs534681445	chr12:118628762-118628763	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs548436369	chr12:118628868-118628869	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs568224793	chr12:118628892-118628893	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs556996292	chr12:118628991-118628992	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs370723515	chr12:118629006-118629007	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs116267888	chr12:118629139-118629140	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs557174663	chr12:118629152-118629153	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs576370674	chr12:118629174-118629175	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs368324437	chr12:118629193-118629194	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs573689475	chr12:118629210-118629211	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs542208490	chr12:118629211-118629212	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs189638821	chr12:118629262-118629263	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs567714957	chr12:118629301-118629302	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs572236444	chr12:118629303-118629304	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs541112065	chr12:118629331-118629332	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs535470160	chr12:118629421-118629422	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs182006587	chr12:118629454-118629455	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs574664662	chr12:118629455-118629456	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs191626	chr12:118629470-118629471	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs564049112	chr12:118629480-118629481	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs117105414	chr12:118629493-118629494	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs545808459	chr12:118629501-118629502	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs559374882	chr12:118629523-118629524	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs545258746	chr12:118629647-118629648	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs528209955	chr12:118629677-118629678	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs708867	chr12:118629699-118629700	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs568263588	chr12:118629710-118629711	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs184818806	chr12:118629733-118629734	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs550494047	chr12:118629752-118629753	Weak transcription Strong transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs570772954	chr12:118629767-118629768	Weak transcription Strong transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	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
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Neuroblastoma	20406844	CNVD
Medulloblastoma	16783165	CNVD
mental retardation	16760730	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Lung adenocarcinoma	21045234	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Pancreatic cancer	17952125	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:281 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118617200-118634400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr12:118619200-118638600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr12:118619400-118635200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr12:118619400-118635800	Weak transcription	Gastric	stomach
5	chr12:118619400-118635800	Weak transcription	Spleen	Spleen
6	chr12:118619600-118631000	Weak transcription	Fetal Thymus	thymus
7	chr12:118619600-118632800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr12:118619600-118635800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr12:118620200-118635200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr12:118620200-118636800	Weak transcription	Hela-S3	cervix
11	chr12:118620200-118656400	Weak transcription	HepG2	liver
12	chr12:118621000-118682600	Weak transcription	A549	lung
13	chr12:118621400-118633400	Strong transcription	Primary hematopoietic stem cells	blood
14	chr12:118621400-118635800	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr12:118621800-118629200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr12:118622400-118643800	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr12:118622400-118643800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr12:118622400-118646400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr12:118622600-118642000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr12:118623400-118628400	Strong transcription	Primary B cells from cord blood	blood
21	chr12:118623600-118628400	Strong transcription	Dnd41	blood
22	chr12:118623600-118642600	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr12:118624400-118635400	Weak transcription	Small Intestine	intestine
24	chr12:118624800-118628800	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr12:118625400-118628400	Strong transcription	Primary T helper cells PMA-I stimulated	--
26	chr12:118625400-118628600	Strong transcription	Primary T cells from cord blood	blood
27	chr12:118625600-118628400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr12:118625600-118628400	Strong transcription	Thymus	Thymus
29	chr12:118625600-118628800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr12:118625600-118628800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
31	chr12:118625600-118630400	Strong transcription	Primary B cells from peripheral blood	blood
32	chr12:118625600-118641600	Weak transcription	Stomach Mucosa	stomach
33	chr12:118625800-118628600	Active TSS	Fetal Brain Female	brain
34	chr12:118625800-118628800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr12:118625800-118628800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr12:118626000-118628600	Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr12:118626000-118628800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
38	chr12:118626000-118628800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr12:118626200-118628600	Active TSS	Brain Angular Gyrus	brain
40	chr12:118626200-118628600	Active TSS	Brain Cingulate Gyrus	brain
41	chr12:118626200-118628600	Active TSS	Brain Germinal Matrix	brain
42	chr12:118626200-118628800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr12:118626200-118628800	Active TSS	Brain Substantia Nigra	brain
44	chr12:118626200-118631400	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr12:118626200-118631400	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr12:118626400-118628400	Active TSS	Brain Inferior Temporal Lobe	brain
47	chr12:118626400-118628600	Active TSS	Brain Hippocampus Middle	brain
48	chr12:118626400-118628600	Flanking Active TSS	NH-A	brain
49	chr12:118626400-118628800	Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr12:118626400-118628800	Active TSS	Aorta	Aorta

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