Variant report

Variant	nsv526021
Chromosome Location	chr12:8662809-8671274
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:368)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CUX1	chr12:8666662-8666670	GM12878	blood:	n/a	n/a
2	EBF1	chr12:8663099-8663437	GM12878	blood:	n/a	n/a
3	EBF1	chr12:8663195-8663307	GM12878	blood:	n/a	n/a
4	MAFF	chr12:8671138-8671255	HepG2	liver:	n/a	chr12:8671173-8671191
5	MAFK	chr12:8671164-8671235	HepG2	liver:	n/a	chr12:8671175-8671190
6	MAFK	chr12:8671085-8671273	HepG2	liver:	n/a	chr12:8671175-8671190
7	MAZ	chr12:8669690-8669694	HepG2	liver:	n/a	n/a
8	REST	chr12:8664348-8664547	Hela-S3	cervix:	n/a	chr12:8664462-8664471 chr12:8664465-8664473
9	ZNF143	chr12:8665146-8665148	Hela-S3	cervix:	n/a	n/a

(count:368 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:8665044-8665094	A549	lung:	n/a
2	chr12:8665044-8665094	PFSK-1	brain:	n/a
3	chr12:8665044-8665094	A549	lung:	n/a
4	chr12:8665044-8665094	PFSK-1	brain:	n/a
5	chr12:8665092-8665142	NB4	blood:	n/a
6	chr12:8665092-8665142	SAEC	small airway:	n/a
7	chr12:8666295-8666345	GM06990	blood:	n/a
8	chr12:8665044-8665094	SK-N-SH_RA	brain:	n/a
9	chr12:8665044-8665094	AG10803	skin:	n/a
10	chr12:8666295-8666345	HNPCEpiC	eye:	n/a
11	chr12:8665092-8665142	Caco-2	colon:	n/a
12	chr12:8666295-8666345	SKMC	muscle:	n/a
13	chr12:8664963-8665013	SAEC	small airway:	n/a
14	chr12:8665092-8665142	SK-N-SH	brain:	n/a
15	chr12:8665133-8665183	PFSK-1	brain:	n/a
16	chr12:8665373-8665423	Hepatocyte	liver:	n/a
17	chr12:8665133-8665183	HEK293	kidney:	embryo
18	chr12:8666295-8666345	HRCEpiC	kidney:	n/a
19	chr12:8666295-8666345	RPTEC	kidney:	n/a
20	chr12:8665373-8665423	A549	lung:	n/a
21	chr12:8665373-8665423	Hela-S3	cervix:	n/a
22	chr12:8664963-8665013	PFSK-1	brain:	n/a
23	chr12:8665133-8665183	SK-N-SH	brain:	n/a
24	chr12:8665373-8665423	Caco-2	colon:	n/a
25	chr12:8665092-8665142	SK-N-SH_RA	brain:	n/a
26	chr12:8665092-8665142	HRPEpiC	eye:	n/a
27	chr12:8665044-8665094	T-47D	breast:	n/a
28	chr12:8665133-8665183	NT2-D1	testis:	n/a
29	chr12:8665092-8665142	LNCaP	prostate:	n/a
30	chr12:8666295-8666345	HIPEpiC	eye:	n/a
31	chr12:8664963-8665013	SK-N-SH	brain:	n/a
32	chr12:8665092-8665142	HCPEpiC	choroid plexus:	n/a
33	chr12:8665092-8665142	NHDF-neo	bronchial:	n/a
34	chr12:8666295-8666345	SK-N-SH_RA	brain:	n/a
35	chr12:8666295-8666345	A549	lung:	n/a
36	chr12:8665133-8665183	HIPEpiC	eye:	n/a
37	chr12:8665092-8665142	HCF	heart:	n/a
38	chr12:8665373-8665423	PFSK-1	brain:	n/a
39	chr12:8664963-8665013	HPAEpiC	pulmonary alveolar:	n/a
40	chr12:8665092-8665142	NHBE	bronchial:	n/a
41	chr12:8665373-8665423	Jurkat	blood:	n/a
42	chr12:8665133-8665183	GM12891	blood:	n/a
43	chr12:8665373-8665423	AG10803	skin:	n/a
44	chr12:8665044-8665094	Jurkat	blood:	n/a
45	chr12:8665373-8665423	SK-N-SH_RA	brain:	n/a
46	chr12:8665133-8665183	NH-A	brain:	n/a
47	chr12:8665044-8665094	HEEpiC	esophagus:	n/a
48	chr12:8665092-8665142	A549	lung:	n/a
49	chr12:8665044-8665094	U87	brain:	n/a
50	chr12:8665133-8665183	BJ	skin:	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CLEC4E-3	chr12:8664970-8665322	NONHSAT026344

No data

Variant related genes	Relation type
CLEC4D	TF binding region
ENSG00000246115	TF binding region
CLEC4D	CpG island
ENSG00000246115	CpG island

Extended variants
information (count: 229 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:229 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7978532	chr12:8662809-8662810	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs183005624	chr12:8662875-8662876	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs186234809	chr12:8663111-8663112	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs79324800	chr12:8663188-8663189	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs12310728	chr12:8663208-8663209	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs373982636	chr12:8663221-8663222	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs145936718	chr12:8663222-8663223	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs374826671	chr12:8663362-8663363	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs191032281	chr12:8663393-8663394	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs550259014	chr12:8663426-8663427	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs139989221	chr12:8663440-8663441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs570130518	chr12:8663445-8663446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs569395683	chr12:8663521-8663522	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs61919167	chr12:8663540-8663541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs112925284	chr12:8663561-8663562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs183340180	chr12:8663570-8663571	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs369363578	chr12:8663587-8663588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs187285046	chr12:8663614-8663615	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs12311007	chr12:8663640-8663641	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs369614790	chr12:8663694-8663695	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs12304047	chr12:8663709-8663710	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs566271668	chr12:8663719-8663720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs534114656	chr12:8663721-8663722	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs534955702	chr12:8663747-8663748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs557943871	chr12:8663759-8663760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs201898031	chr12:8663921-8663922	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs7972013	chr12:8663973-8663974	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs73250509	chr12:8663984-8663985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs150012295	chr12:8664006-8664007	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs573508953	chr12:8664022-8664023	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs370955847	chr12:8664082-8664083	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs114961360	chr12:8664161-8664162	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs577772404	chr12:8664256-8664257	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs193160072	chr12:8664257-8664258	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs147681400	chr12:8664270-8664271	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375516321	chr12:8664300-8664301	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs182808089	chr12:8664313-8664314	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs7135960	chr12:8664351-8664352	Enhancers Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs555891075	chr12:8664376-8664377	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs576080313	chr12:8664511-8664512	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs116181506	chr12:8664515-8664516	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs142432756	chr12:8664563-8664564	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs377344750	chr12:8664567-8664568	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs541497505	chr12:8664626-8664627	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs28485567	chr12:8664719-8664720	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs113089880	chr12:8664739-8664740	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs147873092	chr12:8664740-8664741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs73250515	chr12:8664788-8664789	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs541297850	chr12:8664852-8664853	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564282635	chr12:8664855-8664856	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Hepatocellular carcinoma	16750200	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
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Breast cancer	21858162	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Epilepsy	21858020	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Myelofibrosis	22110671	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
craniofacial dysmorphism	21918468	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Alzheimer''s disease	17160897	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:8660400-8665200	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr12:8662200-8665000	Weak transcription	Spleen	Spleen
3	chr12:8662400-8663600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr12:8662400-8664400	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr12:8662600-8665400	Weak transcription	Primary T cells from cord blood	blood
6	chr12:8662800-8664400	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr12:8664000-8664200	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr12:8664200-8664400	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr12:8664200-8664400	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr12:8664400-8665400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr12:8664400-8665400	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr12:8664400-8666000	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr12:8665200-8665400	Enhancers	Spleen	Spleen
14	chr12:8665200-8665600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
15	chr12:8665200-8665800	Enhancers	Primary B cells from cord blood	blood
16	chr12:8665400-8665800	Enhancers	Primary hematopoietic stem cells	blood
17	chr12:8665400-8665800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr12:8665400-8666000	Enhancers	Primary T cells from cord blood	blood
19	chr12:8665600-8666200	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr12:8665800-8666000	Weak transcription	Primary B cells from cord blood	blood
21	chr12:8665800-8666000	Weak transcription	Primary hematopoietic stem cells	blood
22	chr12:8665800-8667000	Active TSS	Monocytes-CD14+_RO01746	blood
23	chr12:8666000-8666400	Flanking Active TSS	Primary T cells from cord blood	blood
24	chr12:8666000-8667000	Active TSS	Primary monocytes fromperipheralblood	blood
25	chr12:8666000-8667600	Active TSS	Primary hematopoietic stem cells	blood
26	chr12:8666000-8667800	Active TSS	Primary B cells from cord blood	blood
27	chr12:8666200-8667200	Active TSS	Primary neutrophils fromperipheralblood	blood
28	chr12:8666400-8667200	Enhancers	Primary T cells from cord blood	blood
29	chr12:8667000-8667600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
30	chr12:8667000-8668200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chr12:8667200-8667400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
32	chr12:8667400-8667600	Active TSS	Primary neutrophils fromperipheralblood	blood
33	chr12:8667600-8668000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
34	chr12:8667600-8668200	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr12:8667600-8671000	Weak transcription	Primary hematopoietic stem cells	blood
36	chr12:8667800-8668200	Bivalent/Poised TSS	Primary B cells from cord blood	blood
37	chr12:8668000-8668200	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
38	chr12:8668200-8669000	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr12:8668200-8669200	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr12:8668200-8673000	Genic enhancers	Primary neutrophils fromperipheralblood	blood
41	chr12:8669000-8669200	Genic enhancers	Monocytes-CD14+_RO01746	blood
42	chr12:8669000-8669400	Bivalent Enhancer	Brain Cingulate Gyrus	brain
43	chr12:8669200-8669400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
44	chr12:8669200-8669800	Enhancers	Brain Hippocampus Middle	brain
45	chr12:8669200-8670800	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr12:8669200-8672800	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr12:8669400-8669800	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr12:8670800-8672600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
49	chr12:8671000-8672400	Enhancers	Primary hematopoietic stem cells	blood

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