Variant report

Variant	nsv832393
Chromosome Location	chr12:44529406-44692414
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:465)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:465 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr12:44652596-44652635	K562	blood:	n/a	n/a
2	ATF2	chr12:44551120-44551571	GM12878	blood:	n/a	n/a
3	ATF2	chr12:44587002-44587499	GM12878	blood:	n/a	n/a
4	ATF2	chr12:44586945-44587469	GM12878	blood:	n/a	n/a
5	ATF2	chr12:44578344-44578716	GM12878	blood:	n/a	n/a
6	BATF	chr12:44586997-44587418	GM12878	blood:	n/a	chr12:44587211-44587222
7	BATF	chr12:44680163-44680412	GM12878	blood:	n/a	chr12:44680268-44680278 chr12:44680267-44680278
8	BATF	chr12:44587081-44587435	GM12878	blood:	n/a	chr12:44587211-44587222
9	BATF	chr12:44680181-44680366	GM12878	blood:	n/a	chr12:44680268-44680278 chr12:44680267-44680278
10	BATF	chr12:44688366-44688681	GM12878	blood:	n/a	n/a
11	BCL11A	chr12:44680144-44680389	GM12878	blood:	n/a	chr12:44680270-44680279
12	BCL11A	chr12:44587058-44587433	GM12878	blood:	n/a	n/a
13	BCL11A	chr12:44586985-44587488	GM12878	blood:	n/a	n/a
14	BCL11A	chr12:44680182-44680482	GM12878	blood:	n/a	chr12:44680270-44680279
15	BCL3	chr12:44587021-44587446	GM12878	blood:	n/a	n/a
16	BCLAF1	chr12:44578245-44578722	GM12878	blood:	n/a	n/a
17	BHLHE40	chr12:44587099-44587417	GM12878	blood:	n/a	n/a
18	BHLHE40	chr12:44688576-44688828	GM12878	blood:	n/a	n/a
19	BRCA1	chr12:44533947-44533972	GM12878	blood:	n/a	n/a
20	CEBPB	chr12:44646322-44646406	HepG2	liver:	n/a	chr12:44646371-44646382
21	CEBPB	chr12:44554242-44554485	HepG2	liver:	n/a	chr12:44554350-44554361
22	CEBPB	chr12:44547805-44548105	IMR90	lung:	n/a	chr12:44547960-44547973
23	CEBPB	chr12:44566548-44566698	HepG2	liver:	n/a	chr12:44566583-44566594
24	CEBPB	chr12:44564569-44564769	HepG2	liver:	n/a	chr12:44564673-44564684
25	CEBPB	chr12:44654952-44655220	HepG2	liver:	n/a	chr12:44655073-44655084
26	CEBPB	chr12:44681380-44681682	IMR90	lung:	n/a	n/a
27	CEBPB	chr12:44690075-44690381	HepG2	liver:	n/a	chr12:44690209-44690220
28	CEBPB	chr12:44586946-44587559	GM12878	blood:	n/a	n/a
29	CEBPB	chr12:44654910-44655225	IMR90	lung:	n/a	chr12:44655073-44655084
30	CEBPB	chr12:44554268-44554483	A549	lung:	n/a	chr12:44554350-44554361
31	CEBPB	chr12:44589119-44589443	H1-hESC	embryonic stem cell:	n/a	n/a
32	CEBPB	chr12:44591823-44592060	IMR90	lung:	n/a	n/a
33	CEBPB	chr12:44655002-44655132	H1-hESC	embryonic stem cell:	n/a	chr12:44655073-44655084
34	CHD1	chr12:44587495-44587568	GM12878	blood:	n/a	n/a
35	CREB1	chr12:44578213-44578781	GM12878	blood:	n/a	n/a
36	CREB1	chr12:44587068-44587520	GM12878	blood:	n/a	n/a
37	CTCF	chr12:44593810-44593902	GM20000	blood:	n/a	n/a
38	CTCF	chr12:44573550-44573573	LNCaP	prostate:	n/a	n/a
39	CTCF	chr12:44641440-44641590	GM12874	blood:	n/a	n/a
40	CTCF	chr12:44630780-44630930	SAEC	small airway:	n/a	n/a
41	CTCF	chr12:44641440-44641590	WERI-Rb-1	eye:	n/a	n/a
42	CTCF	chr12:44641340-44641490	Hela-S3	cervix:	n/a	n/a
43	CTCF	chr12:44641420-44641570	GM12873	blood:	n/a	n/a
44	CTCF	chr12:44641420-44641570	HepG2	liver:	n/a	n/a
45	CTCF	chr12:44641455-44641582	Hela-S3	cervix:	n/a	n/a
46	CTCF	chr12:44641420-44641570	HCT-116	colon:	n/a	n/a
47	CTCF	chr12:44641456-44641582	MCF-7	breast:	n/a	n/a
48	CTCF	chr12:44641480-44641630	GM12866	blood:	n/a	n/a
49	CTCF	chr12:44641442-44641568	Medullo	brain:	n/a	n/a
50	CTCF	chr12:44641460-44641610	HRPEpiC	eye:	n/a	n/a

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:44552692..44555672-chr12:44555783..44557348,2	K562	blood:
2	chr12:44643047..44644547-chr17:41399488..41402344,2	MCF-7	breast:
3	chr12:44643067..44644567-chr17:41380596..41383362,2	MCF-7	breast:
4	chr12:44588166..44590207-chr12:44592125..44594551,2	MCF-7	breast:
5	chr12:44643047..44644567-chr17:41464692..41466283,2	K562	blood:
6	chr12:44644047..44644567-chr17:41381566..41382268,2	HCT-116	colon:
7	chr12:44631499..44634867-chr12:44643892..44645768,3	MCF-7	breast:
8	chr12:44631499..44634867-chr12:44643892..44645768,3	MCF-7	breast:
9	chr12:44550647..44552515-chr12:44553138..44554864,2	MCF-7	breast:
10	chr10:118975832..118976436-chr12:44626834..44627700,2	MCF-7	breast:
11	chr12:44588166..44590207-chr12:44592125..44594551,2	MCF-7	breast:
12	chr12:44621635..44624331-chr12:44625593..44628194,2	MCF-7	breast:
13	chr12:44552692..44555672-chr12:44555783..44557348,2	K562	blood:
14	chr12:44550647..44552515-chr12:44553138..44554864,2	MCF-7	breast:
15	chr12:44643047..44644547-chr17:41463781..41466354,2	MCF-7	breast:
16	chr12:44581340..44581879-chr20:52278418..52279008,2	MCF-7	breast:
17	chr12:44621635..44624331-chr12:44625593..44628194,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-IRAK4-4	chr12:44671035-44673934	ncRnaDb_ncrna_FR115916_1
2	lnc-NELL2-1	chr12:44657256-44657765	ENSG00000257947.1
3	lnc-NELL2-1	chr12:44638177-44638233	ENSG00000257947.1

No data

Variant related genes	Relation type
ENSG00000257864	TF binding region
ENSG00000257947	TF binding region
ENSG00000188825	chromatin interactions
ENSG00000236383	chromatin interactions

Extended variants
information (count: 5989 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:5989 , 50 per page) page: 1 2 3 4 5 6 7 ... 120

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs541600679	chr12:44529420-44529421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs192246793	chr12:44529432-44529433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs553455707	chr12:44529449-44529450	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs554373828	chr12:44529467-44529468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs573280936	chr12:44529499-44529500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs12305063	chr12:44529518-44529519	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs565287096	chr12:44529528-44529529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs183576318	chr12:44529565-44529566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs188571152	chr12:44529566-44529567	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs113505413	chr12:44529602-44529603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530347774	chr12:44529609-44529610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs571361402	chr12:44529611-44529612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs118188315	chr12:44529683-44529684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs556927682	chr12:44529696-44529697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs566909077	chr12:44529716-44529717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs527383500	chr12:44529730-44529731	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs551956836	chr12:44529756-44529757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs570129565	chr12:44529767-44529768	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs148026935	chr12:44529810-44529811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs542894943	chr12:44529862-44529863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs191946597	chr12:44529907-44529908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554901050	chr12:44529931-44529932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs184021586	chr12:44529994-44529995	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs568009149	chr12:44530000-44530001	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs142667632	chr12:44530013-44530014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs79127561	chr12:44530076-44530077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs552180606	chr12:44530104-44530105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs77915107	chr12:44530118-44530119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs540745438	chr12:44530127-44530128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs74638081	chr12:44530137-44530138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs73288083	chr12:44530165-44530166	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs186842578	chr12:44530180-44530181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs570340679	chr12:44530188-44530189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369838949	chr12:44530310-44530311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs73288085	chr12:44530325-44530326	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs80353168	chr12:44530400-44530401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs537815364	chr12:44530403-44530404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs367756636	chr12:44530407-44530408	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549349895	chr12:44530443-44530444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs527847102	chr12:44530447-44530448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs375924133	chr12:44530469-44530470	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs76496387	chr12:44530495-44530496	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs117327210	chr12:44530544-44530545	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs545086924	chr12:44530545-44530546	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs144841088	chr12:44530552-44530553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs549355078	chr12:44530561-44530562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs112173852	chr12:44530604-44530605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs567680343	chr12:44530649-44530650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs191470399	chr12:44530668-44530669	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs372514669	chr12:44530682-44530683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
Wilms tumour	21544195	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
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18194544	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
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Cancer	21183584	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Cancer	20164919	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
Acute lymphoblastic leukemia	19039135	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Prostate cancer	18632612	CNVD
Melanoma	20877625	CNVD
Gastric cancer	18160780	CNVD
Follicular lymphoma	20505157	CNVD
Hepatocellular carcinoma	16750200	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD

Chromatin state (count:342 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44510800-44531400	Weak transcription	Psoas Muscle	Psoas
2	chr12:44511400-44605800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:44522000-44534000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:44522400-44545200	Weak transcription	HSMMtube	muscle
5	chr12:44530000-44534400	Weak transcription	Aorta	Aorta
6	chr12:44530800-44573200	Weak transcription	Pancreas	Pancrea
7	chr12:44531000-44532200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr12:44531400-44531600	ZNF genes & repeats	Psoas Muscle	Psoas
9	chr12:44531600-44531800	ZNF genes & repeats	Ovary	ovary
10	chr12:44531600-44547800	Weak transcription	Psoas Muscle	Psoas
11	chr12:44531800-44540800	Weak transcription	Ovary	ovary
12	chr12:44534000-44534800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr12:44534400-44534800	ZNF genes & repeats	Aorta	Aorta
14	chr12:44534600-44534800	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr12:44534800-44539400	Weak transcription	Aorta	Aorta
16	chr12:44534800-44539800	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr12:44534800-44573000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr12:44536200-44547800	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr12:44536800-44542400	Weak transcription	Fetal Intestine Large	intestine
20	chr12:44538000-44538600	Enhancers	NHEK	skin
21	chr12:44538000-44541400	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr12:44538200-44543600	Weak transcription	Esophagus	oesophagus
23	chr12:44538400-44539000	Weak transcription	Left Ventricle	heart
24	chr12:44539000-44541600	Weak transcription	Fetal Intestine Small	intestine
25	chr12:44539400-44539600	ZNF genes & repeats	Aorta	Aorta
26	chr12:44539600-44553800	Weak transcription	Aorta	Aorta
27	chr12:44542600-44543200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr12:44542600-44543400	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr12:44546200-44547000	Weak transcription	Left Ventricle	heart
30	chr12:44547000-44547200	Enhancers	Left Ventricle	heart
31	chr12:44547000-44554200	Enhancers	Fetal Heart	heart
32	chr12:44547200-44554400	Weak transcription	Left Ventricle	heart
33	chr12:44547800-44548000	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr12:44547800-44548200	Enhancers	Muscle Satellite Cultured Cells	--
35	chr12:44547800-44548200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr12:44547800-44548200	Enhancers	Colon Smooth Muscle	Colon
37	chr12:44547800-44548200	Active TSS	Psoas Muscle	Psoas
38	chr12:44547800-44548200	Active TSS	Right Atrium	heart
39	chr12:44547800-44548200	Active TSS	Right Ventricle	heart
40	chr12:44547800-44548200	Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr12:44547800-44548200	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr12:44547800-44548200	Active TSS	Stomach Smooth Muscle	stomach
43	chr12:44547800-44548200	Active TSS	NHLF	lung
44	chr12:44547800-44548400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr12:44547800-44548400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr12:44547800-44548400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr12:44548000-44548200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr12:44548200-44548400	Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr12:44548200-44549200	Weak transcription	Right Atrium	heart
50	chr12:44548200-44551800	Weak transcription	Right Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links