Variant report

Variant	nsv524870
Chromosome Location	chr12:10209711-10219885
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:16 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr12:10210039-10210281	K562	blood:	n/a	n/a
2	CTCF	chr12:10216516-10216582	GM20000	blood:	n/a	n/a
3	CTCF	chr12:10216519-10216555	GM10248	blood:	n/a	n/a
4	CTCF	chr12:10213621-10213906	GM12878	blood:	n/a	n/a
5	CTCF	chr12:10218775-10218833	Lung_OC	lung:	n/a	n/a
6	JUN	chr12:10219633-10220252	HUVEC	blood vessel:	n/a	n/a
7	MAFK	chr12:10217798-10218103	HepG2	liver:	n/a	chr12:10217982-10218002 chr12:10217986-10217996
8	MAFK	chr12:10217892-10218092	IMR90	lung:	n/a	chr12:10217982-10218002 chr12:10217986-10217996
9	MAFK	chr12:10217843-10218086	HepG2	liver:	n/a	chr12:10217982-10218002 chr12:10217986-10217996
10	POLR2A	chr12:10219638-10220341	HUVEC	blood vessel:	n/a	n/a
11	POLR2A	chr12:10219674-10220241	HUVEC	blood vessel:	n/a	n/a
12	POLR2A	chr12:10211362-10211438	MCF-7	breast:	n/a	n/a
13	POLR2A	chr12:10211317-10211409	A549	lung:	n/a	n/a
14	POLR2A	chr12:10211160-10211313	A549	lung:	n/a	n/a
15	POLR2A	chr12:10219763-10221397	HUVEC	blood vessel:	n/a	n/a
16	POLR2A	chr12:10219758-10221954	HUVEC	blood vessel:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:10218516-10218566	NHBE	bronchial:	n/a
2	chr12:10218516-10218566	CMK	blood:	n/a
3	chr12:10218516-10218566	PFSK-1	brain:	n/a
4	chr12:10218516-10218566	HIPEpiC	eye:	n/a
5	chr12:10218516-10218566	IMR90	lung:	fetal
6	chr12:10218516-10218566	RPTEC	kidney:	n/a
7	chr12:10218516-10218566	HCM	heart:	n/a
8	chr12:10218516-10218566	ECC-1	luminal epithelium:	n/a
9	chr12:10218516-10218566	MCF-7	breast:	n/a
10	chr12:10218516-10218566	HPAEpiC	pulmonary alveolar:	n/a
11	chr12:10218516-10218566	HAEpiC	amniotic membrane:	n/a
12	chr12:10218516-10218566	HRPEpiC	eye:	n/a
13	chr12:10218516-10218566	GM12891	blood:	n/a
14	chr12:10218516-10218566	HEK293	kidney:	embryo
15	chr12:10218516-10218566	GM19239	blood:	n/a
16	chr12:10218516-10218566	Jurkat	blood:	n/a
17	chr12:10218516-10218566	SK-N-MC	brain:	n/a
18	chr12:10218516-10218566	NHDF-neo	bronchial:	n/a
19	chr12:10218516-10218566	SK-N-SH_RA	brain:	n/a
20	chr12:10218516-10218566	BJ	skin:	n/a
21	chr12:10218516-10218566	T-47D	breast:	n/a
22	chr12:10218516-10218566	A549	lung:	n/a
23	chr12:10218516-10218566	HL-60	blood:	n/a
24	chr12:10218516-10218566	LNCaP	prostate:	n/a
25	chr12:10218516-10218566	HMEC	breast:	n/a
26	chr12:10218516-10218566	HCT-116	colon:	n/a
27	chr12:10218516-10218566	H1-hESC	embryonic stem cell:	embryo
28	chr12:10218516-10218566	SAEC	small airway:	n/a
29	chr12:10218516-10218566	GM12892	blood:	n/a
30	chr12:10218516-10218566	HNPCEpiC	eye:	n/a
31	chr12:10218516-10218566	NB4	blood:	n/a
32	chr12:10218516-10218566	HEEpiC	esophagus:	n/a
33	chr12:10218516-10218566	U87	brain:	n/a
34	chr12:10218516-10218566	AG04450	lung:	fetal
35	chr12:10218516-10218566	ovcar-3	ovarian:	n/a
36	chr12:10218516-10218566	SKMC	muscle:	n/a
37	chr12:10218516-10218566	ProgFib	skin:	n/a
38	chr12:10218516-10218566	GM06990	blood:	n/a
39	chr12:10218516-10218566	AG09319	gingival:	n/a
40	chr12:10218516-10218566	GM12878	blood:	n/a
41	chr12:10218516-10218566	HCF	heart:	n/a
42	chr12:10218516-10218566	Hepatocyte	liver:	n/a
43	chr12:10218516-10218566	BE2_C	brain:	n/a
44	chr12:10218516-10218566	AG09309	skin:	n/a
45	chr12:10218516-10218566	NH-A	brain:	n/a
46	chr12:10218516-10218566	MCF10A-Er-Src	breast:	n/a
47	chr12:10218516-10218566	AG04449	skin:	fetal
48	chr12:10218516-10218566	HUVEC	blood vessel:	n/a
49	chr12:10218516-10218566	HRCEpiC	kidney:	n/a
50	chr12:10218516-10218566	Hela-S3	cervix:	n/a

No data

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CLEC12B-2	chr12:10215654-10215781	NONHSAT026862
2	lnc-CLEC12B-2	chr12:10213198-10213872	NONHSAT026862

No data

Variant related genes	Relation type
CLEC9A	TF binding region
CLEC9A	CpG island

Extended variants
information (count: 330 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:330 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10505751	chr12:10209711-10209712	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs572471504	chr12:10209821-10209822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs182359781	chr12:10209860-10209861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs189093920	chr12:10209872-10209873	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs535713867	chr12:10209891-10209892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs193143157	chr12:10210025-10210026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs552850122	chr12:10210058-10210059	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs549431418	chr12:10210078-10210079	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs184906148	chr12:10210079-10210080	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs145666284	chr12:10210120-10210121	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs566143490	chr12:10210132-10210133	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs187616863	chr12:10210185-10210186	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs541189442	chr12:10210213-10210214	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs192101924	chr12:10210224-10210225	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs560248963	chr12:10210227-10210228	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs554044533	chr12:10210255-10210256	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs573896906	chr12:10210265-10210266	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs532185174	chr12:10210443-10210444	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs141641337	chr12:10210453-10210454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs542916954	chr12:10210461-10210462	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs535177841	chr12:10210505-10210506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs148483852	chr12:10210509-10210510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs144124463	chr12:10210540-10210541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs117032106	chr12:10210545-10210546	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs544721364	chr12:10210585-10210586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs184246211	chr12:10210604-10210605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs146491604	chr12:10210646-10210647	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs145071229	chr12:10210718-10210719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs61459404	chr12:10210736-10210737	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs529446206	chr12:10210746-10210747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs377248252	chr12:10210765-10210766	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs151269410	chr12:10210776-10210777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs531727364	chr12:10210796-10210797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs140472308	chr12:10210880-10210881	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs571755110	chr12:10210918-10210919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs189469055	chr12:10210924-10210925	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs150400833	chr12:10210933-10210934	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs567422787	chr12:10211026-10211027	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs7297177	chr12:10211041-10211042	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs138121188	chr12:10211100-10211101	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs73259789	chr12:10211132-10211133	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs544971062	chr12:10211135-10211136	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs558093171	chr12:10211175-10211176	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs571727415	chr12:10211189-10211190	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs540676387	chr12:10211253-10211254	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs567977989	chr12:10211288-10211289	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs529436165	chr12:10211318-10211319	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs144100550	chr12:10211336-10211337	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs146896782	chr12:10211345-10211346	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs531945455	chr12:10211351-10211352	Enhancers Weak transcription Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
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
Acute lymphoblastic leukemia	22237106	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21611746	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Squamous cell cancer	19607727	CNVD
Prostate cancer	16573809	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Glioblastoma multiforme	22286061	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	17133270	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10206200-10211000	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr12:10207800-10211800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr12:10208000-10213800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr12:10209200-10211000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr12:10211000-10211400	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr12:10211000-10211400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr12:10211200-10211400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr12:10211400-10211800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr12:10211400-10212200	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr12:10211800-10212200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr12:10211800-10212200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr12:10212200-10212400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr12:10212200-10212400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr12:10212200-10212800	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr12:10212400-10213600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr12:10212400-10214200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr12:10212800-10217600	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr12:10213600-10215800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr12:10213800-10215800	Strong transcription	Primary hematopoietic stem cells	blood
20	chr12:10214200-10215800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr12:10215800-10217400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr12:10215800-10217400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr12:10215800-10217600	Weak transcription	Primary hematopoietic stem cells	blood
24	chr12:10217200-10220400	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr12:10217400-10217800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr12:10217400-10218400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr12:10217400-10220000	Enhancers	HUVEC	blood vessel
28	chr12:10217400-10220000	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr12:10217600-10218200	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr12:10217600-10218200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr12:10217600-10218400	Enhancers	Primary hematopoietic stem cells	blood
32	chr12:10217800-10218000	Enhancers	GM12878-XiMat	blood
33	chr12:10217800-10218200	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr12:10217800-10218200	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr12:10217800-10218200	Enhancers	Adipose Nuclei	Adipose
36	chr12:10217800-10218600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr12:10218000-10218200	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr12:10218000-10218200	Flanking Active TSS	GM12878-XiMat	blood
39	chr12:10218000-10218400	Enhancers	Fetal Thymus	thymus
40	chr12:10218000-10222000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr12:10218200-10219200	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr12:10218200-10220000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr12:10218200-10220600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr12:10218200-10221000	Weak transcription	Adipose Nuclei	Adipose
45	chr12:10218400-10219000	Genic enhancers	Primary hematopoietic stem cells	blood
46	chr12:10218400-10219000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr12:10218600-10220000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr12:10218800-10219000	Enhancers	Primary B cells from cord blood	blood
49	chr12:10218800-10219000	Enhancers	Left Ventricle	heart
50	chr12:10218800-10219400	Enhancers	Fetal Adrenal Gland	Adrenal Gland

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links