Variant report

Variant	nsv826528
Chromosome Location	chr12:121739465-121741687
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:13)
LncRNA
region (count:0)
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	FOS	chr12:121739755-121739918	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr12:121739782-121739886	MCF10A-Er-Src	breast:	n/a	n/a
3	FOS	chr12:121739834-121739881	MCF10A-Er-Src	breast:	n/a	n/a
4	STAT3	chr12:121739760-121739960	MCF10A-Er-Src	breast:	n/a	chr12:121739863-121739875
5	STAT3	chr12:121739716-121739915	MCF10A-Er-Src	breast:	n/a	chr12:121739863-121739875
6	STAT3	chr12:121739687-121740002	MCF10A-Er-Src	breast:	n/a	chr12:121739863-121739875
7	ZNF384	chr12:121740495-121740987	K562	blood:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:121736650..121739500-chr12:121740653..121743814,3	K562	blood:
2	chr12:121732992..121736295-chr12:121738254..121741705,3	MCF-7	breast:
3	chr12:121737101..121740224-chr12:121740653..121743951,4	K562	blood:
4	chr12:121740867..121743563-chr12:121749932..121751434,2	K562	blood:
5	chr12:121730283..121732631-chr12:121741118..121743378,2	MCF-7	breast:
6	chr12:121734467..121737087-chr12:121737229..121740129,2	MCF-7	breast:
7	chr12:121737101..121740224-chr12:121740653..121743951,4	K562	blood:
8	chr12:121733797..121736643-chr12:121740237..121742397,2	K562	blood:
9	chr12:121732846..121736440-chr12:121741046..121746496,5	MCF-7	breast:
10	chr12:121739937..121742219-chr12:121783011..121784714,2	K562	blood:
11	chr12:121739620..121740120-chr17:4046917..4047425,2	Hela-S3	cervix:
12	chr12:121723906..121727301-chr12:121738225..121741362,3	K562	blood:
13	chr12:121736650..121739500-chr12:121740653..121743814,3	K562	blood:

No data

Variant related genes	Relation type
CAMKK2	TF binding region
ENSG00000167740	chromatin interactions
ENSG00000089053	chromatin interactions
ENSG00000110931	chromatin interactions

Extended variants
information (count: 78 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:78 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567309816	chr12:121739494-121739495	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs150125189	chr12:121739519-121739520	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs546371711	chr12:121739520-121739521	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs377352331	chr12:121739590-121739591	Weak transcription Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs138449762	chr12:121739605-121739606	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs202111937	chr12:121739643-121739644	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs2686355	chr12:121739646-121739647	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs111588557	chr12:121739652-121739653	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs59369044	chr12:121739662-121739663	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs550817362	chr12:121739684-121739685	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs569064908	chr12:121739741-121739742	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs12301449	chr12:121739758-121739759	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs141560994	chr12:121739778-121739779	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs146177922	chr12:121739794-121739795	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs534323918	chr12:121739928-121739929	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs559175825	chr12:121739969-121739970	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs137864567	chr12:121739988-121739989	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs368069574	chr12:121740043-121740044	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs544836586	chr12:121740057-121740058	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs563159017	chr12:121740067-121740068	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs575037145	chr12:121740108-121740109	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs536835509	chr12:121740115-121740116	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs568620063	chr12:121740128-121740129	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs371744420	chr12:121740156-121740157	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs560753608	chr12:121740167-121740168	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs528150504	chr12:121740226-121740227	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs111643421	chr12:121740276-121740277	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs553640073	chr12:121740281-121740282	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs564653738	chr12:121740385-121740386	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs532133763	chr12:121740422-121740423	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs550504508	chr12:121740426-121740427	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs527881628	chr12:121740445-121740446	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs7957088	chr12:121740521-121740522	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs369603788	chr12:121740538-121740539	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs144813769	chr12:121740564-121740565	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs4980991	chr12:121740580-121740581	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs570961974	chr12:121740586-121740587	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs71079051	chr12:121740624-121740625	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs12809636	chr12:121740685-121740686	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs57884113	chr12:121740715-121740716	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs568520277	chr12:121740716-121740717	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs61254854	chr12:121740724-121740725	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs566901757	chr12:121740779-121740780	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs534207501	chr12:121740786-121740787	Weak transcription Enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs12809685	chr12:121740801-121740802	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs577426791	chr12:121740824-121740825	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
47	rs375697791	chr12:121740859-121740860	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs368052994	chr12:121740981-121740982	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs57543583	chr12:121740993-121740994	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs148562038	chr12:121741015-121741016	Weak transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:75)

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	16397240	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	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
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chordoma	18071362	CNVD
Breast cancer	21509527	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:144 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121735400-121745800	Weak transcription	Small Intestine	intestine
2	chr12:121735600-121739600	Weak transcription	NHDF-Ad	bronchial
3	chr12:121735600-121739800	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr12:121735600-121745400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr12:121735600-121745600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr12:121735600-121745600	Weak transcription	Left Ventricle	heart
7	chr12:121735600-121745600	Weak transcription	HSMMtube	muscle
8	chr12:121735600-121745800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr12:121735600-121745800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr12:121735600-121745800	Weak transcription	Gastric	stomach
11	chr12:121735600-121745800	Weak transcription	Ovary	ovary
12	chr12:121735600-121745800	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr12:121735600-121745800	Weak transcription	A549	lung
14	chr12:121735600-121746000	Weak transcription	Brain Substantia Nigra	brain
15	chr12:121735600-121746000	Weak transcription	HMEC	breast
16	chr12:121735600-121747400	Weak transcription	NHLF	lung
17	chr12:121735600-121755600	Weak transcription	Brain Angular Gyrus	brain
18	chr12:121735600-121755800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr12:121735600-121755800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:121735600-121755800	Weak transcription	Aorta	Aorta
21	chr12:121735600-121755800	Weak transcription	Esophagus	oesophagus
22	chr12:121735800-121744600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr12:121735800-121745600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr12:121735800-121745600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr12:121735800-121745600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr12:121735800-121745600	Weak transcription	Brain Germinal Matrix	brain
27	chr12:121735800-121745600	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr12:121735800-121745600	Weak transcription	Thymus	Thymus
29	chr12:121735800-121745800	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr12:121735800-121745800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr12:121735800-121745800	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr12:121735800-121745800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr12:121735800-121745800	Weak transcription	Primary T cells from cord blood	blood
34	chr12:121735800-121745800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr12:121735800-121745800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr12:121735800-121745800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr12:121735800-121745800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr12:121735800-121745800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr12:121735800-121745800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr12:121735800-121745800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr12:121735800-121745800	Weak transcription	Brain Anterior Caudate	brain
42	chr12:121735800-121745800	Weak transcription	Brain Hippocampus Middle	brain
43	chr12:121735800-121745800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr12:121735800-121745800	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr12:121735800-121745800	Weak transcription	Lung	lung
46	chr12:121735800-121745800	Weak transcription	Dnd41	blood
47	chr12:121735800-121745800	Weak transcription	NHEK	skin
48	chr12:121735800-121746000	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr12:121735800-121747200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr12:121735800-121747400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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