Variant report

Variant	nsv1048307
Chromosome Location	chr12:48927514-48958949
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	ARID3A	chr12:48950291-48951364	K562	blood:	n/a	n/a
2	ATF1	chr12:48936123-48936385	K562	blood:	n/a	n/a
3	ATF1	chr12:48933904-48934518	K562	blood:	n/a	n/a
4	ATF1	chr12:48950195-48950721	K562	blood:	n/a	n/a
5	ATF3	chr12:48933832-48934577	HCT-116	colon:	n/a	n/a
6	ATF3	chr12:48933865-48934527	HCT-116	colon:	n/a	n/a
7	ATF3	chr12:48933890-48934468	K562	blood:	n/a	n/a
8	BACH1	chr12:48936202-48936217	K562	blood:	n/a	n/a
9	BATF	chr12:48933902-48934126	GM12878	blood:	n/a	n/a
10	BATF	chr12:48933880-48934535	GM12878	blood:	n/a	n/a
11	BCL11A	chr12:48933905-48934571	GM12878	blood:	n/a	n/a
12	BHLHE40	chr12:48934121-48934460	K562	blood:	n/a	n/a
13	BHLHE40	chr12:48934084-48934265	GM12878	blood:	n/a	n/a
14	CBX3	chr12:48933891-48934524	HCT-116	colon:	n/a	n/a
15	CEBPB	chr12:48951691-48951989	IMR90	lung:	n/a	chr12:48951830-48951841
16	CEBPB	chr12:48933678-48934588	HCT-116	colon:	n/a	chr12:48934027-48934038 chr12:48934232-48934244
17	CEBPB	chr12:48933845-48934233	A549	lung:	n/a	chr12:48934027-48934038
18	CEBPB	chr12:48951677-48952008	K562	blood:	n/a	chr12:48951830-48951841
19	CEBPB	chr12:48933694-48934637	HCT-116	colon:	n/a	chr12:48934027-48934038 chr12:48934232-48934244
20	CEBPB	chr12:48933845-48934251	K562	blood:	n/a	chr12:48934027-48934038 chr12:48934232-48934244
21	CEBPB	chr12:48951652-48951950	K562	blood:	n/a	chr12:48951830-48951841
22	CEBPB	chr12:48951734-48951946	A549	lung:	n/a	chr12:48951830-48951841
23	CEBPB	chr12:48947798-48948085	Hela-S3	cervix:	n/a	n/a
24	CEBPB	chr12:48933876-48934219	HepG2	liver:	n/a	chr12:48934027-48934038
25	CEBPB	chr12:48933834-48934449	Hela-S3	cervix:	n/a	chr12:48934027-48934038 chr12:48934232-48934244
26	CEBPB	chr12:48951704-48952001	Hela-S3	cervix:	n/a	chr12:48951830-48951841
27	CEBPB	chr12:48933926-48934210	K562	blood:	n/a	chr12:48934027-48934038
28	CEBPB	chr12:48951716-48951978	HepG2	liver:	n/a	chr12:48951830-48951841
29	CEBPB	chr12:48933808-48934335	K562	blood:	n/a	chr12:48934027-48934038 chr12:48934232-48934244
30	CEBPB	chr12:48933896-48934252	IMR90	lung:	n/a	chr12:48934027-48934038 chr12:48934232-48934244
31	CEBPB	chr12:48933770-48934374	GM12878	blood:	n/a	chr12:48934027-48934038 chr12:48934232-48934244
32	CHD2	chr12:48950620-48950637	H1-hESC	embryonic stem cell:	n/a	n/a
33	CHD2	chr12:48934099-48934111	GM12878	blood:	n/a	n/a
34	CHD2	chr12:48936179-48936310	K562	blood:	n/a	n/a
35	CTCF	chr12:48936260-48936410	WI-38	lung:	n/a	chr12:48936275-48936293 chr12:48936276-48936292 chr12:48936278-48936291
36	CTCF	chr12:48936260-48936410	HCM	heart:	n/a	chr12:48936275-48936293 chr12:48936276-48936292 chr12:48936278-48936291
37	CTCF	chr12:48935993-48936527	MCF-7	breast:	n/a	chr12:48936275-48936293 chr12:48936276-48936292 chr12:48936278-48936291
38	CTCF	chr12:48936260-48936410	RPTEC	kidney:	n/a	chr12:48936275-48936293 chr12:48936276-48936292 chr12:48936278-48936291
39	CTCF	chr12:48936220-48936370	AG04449	skin:	n/a	chr12:48936275-48936293 chr12:48936276-48936292 chr12:48936278-48936291
40	CTCF	chr12:48936220-48936370	AG09309	skin:	n/a	chr12:48936275-48936293 chr12:48936276-48936292 chr12:48936278-48936291
41	CTCF	chr12:48936220-48936370	HCPEpiC	choroid plexus:	n/a	chr12:48936275-48936293 chr12:48936276-48936292 chr12:48936278-48936291
42	CTCF	chr12:48936125-48936431	K562	blood:	n/a	chr12:48936275-48936293 chr12:48936276-48936292 chr12:48936278-48936291
43	CTCF	chr12:48936180-48936385	H1-hESC	embryonic stem cell:	n/a	chr12:48936275-48936293 chr12:48936276-48936292 chr12:48936278-48936291
44	CTCF	chr12:48936220-48936370	K562	blood:	n/a	chr12:48936275-48936293 chr12:48936276-48936292 chr12:48936278-48936291
45	CTCF	chr12:48936220-48936370	GM12878	blood:	n/a	chr12:48936275-48936293 chr12:48936276-48936292 chr12:48936278-48936291
46	CTCF	chr12:48936240-48936390	GM12866	blood:	n/a	chr12:48936275-48936293 chr12:48936276-48936292 chr12:48936278-48936291
47	CTCF	chr12:48936197-48936373	GM19239	blood:	n/a	chr12:48936275-48936293 chr12:48936276-48936292 chr12:48936278-48936291
48	CTCF	chr12:48936280-48936430	HMEC	breast:	n/a	n/a
49	CTCF	chr12:48936220-48936370	AG09319	gingival:	n/a	chr12:48936275-48936293 chr12:48936276-48936292 chr12:48936278-48936291
50	CTCF	chr12:48936200-48936350	GM12872	blood:	n/a	chr12:48936275-48936293 chr12:48936276-48936292 chr12:48936278-48936291

No.	Distal block	Cell Line	Cell type
1	chr12:48939599..48941827-chr12:49010095..49012004,2	MCF-7	breast:
2	chr12:48935919..48936970-chr12:49189329..49190246,4	K562	blood:
3	chr12:48934748..48937258-chr12:49020074..49022107,2	K562	blood:
4	chr12:48931723..48934359-chr12:48958892..48961149,2	MCF-7	breast:
5	chr12:48935860..48936459-chr12:49189641..49190580,2	MCF-7	breast:
6	chr12:48917007..48919445-chr12:48952290..48954111,2	K562	blood:
7	chr12:48934471..48935404-chr12:49011968..49012486,2	K562	blood:
8	chr12:48935790..48936824-chr12:49011913..49012916,27	K562	blood:
9	chr12:48935680..48937116-chr12:49011674..49012886,17	MCF-7	breast:
10	chr12:48935776..48936689-chr12:49189357..49190185,2	MCF-7	breast:
11	chr12:48934973..48936541-chr12:49010116..49012626,2	MCF-7	breast:
12	chr12:48950749..48953100-chr12:48955040..48956602,2	K562	blood:
13	chr12:48950749..48953100-chr12:48955040..48956602,2	K562	blood:
14	chr12:48958451..48960605-chr12:48966493..48968206,2	K562	blood:
15	chr12:48931723..48934359-chr12:48958892..48961149,2	MCF-7	breast:
16	chr12:48936113..48936998-chr12:49012151..49012777,3	MCF-7	breast:
17	chr12:48931273..48933228-chr12:49012500..49014715,2	K562	blood:
18	chr12:48933826..48935713-chr12:49066983..49069233,2	MCF-7	breast:

Variant related genes	Relation type
OR5BS1P	TF binding region
ENSG00000197376	chromatin interactions
ENSG00000224709	chromatin interactions

Extended variants
information (count: 520 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:520 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4523733	chr12:48927514-48927515	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs4409884	chr12:48927541-48927542	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs371075042	chr12:48927546-48927547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs542522660	chr12:48927563-48927564	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs143418204	chr12:48927644-48927645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs559236524	chr12:48927651-48927652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs2731080	chr12:48927665-48927666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs576541857	chr12:48927672-48927673	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs528312507	chr12:48927673-48927674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs182238419	chr12:48927684-48927685	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs187253395	chr12:48927696-48927697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs191627654	chr12:48927697-48927698	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs4359253	chr12:48927708-48927709	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs2731081	chr12:48927751-48927752	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs567277792	chr12:48927780-48927781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs145919163	chr12:48927924-48927925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs536897879	chr12:48927957-48927958	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs547337624	chr12:48927973-48927974	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs192321510	chr12:48932811-48932812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs570374349	chr12:48932812-48932813	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs574140135	chr12:48932820-48932821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs149331436	chr12:48932864-48932865	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs12300672	chr12:48932867-48932868	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs573203392	chr12:48932893-48932894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs545106603	chr12:48932919-48932920	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs564383683	chr12:48932924-48932925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs533101962	chr12:48932985-48932986	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs549554871	chr12:48933011-48933012	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs563152276	chr12:48933015-48933016	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs11609658	chr12:48933126-48933127	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs562812939	chr12:48933138-48933139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs549084190	chr12:48933151-48933152	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs565507054	chr12:48933160-48933161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs183657026	chr12:48933196-48933197	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs551120675	chr12:48933206-48933207	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs188320560	chr12:48933229-48933230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs11168618	chr12:48933233-48933234	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
38	rs557540906	chr12:48933254-48933255	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs574305004	chr12:48933282-48933283	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs536311046	chr12:48933288-48933289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs147426910	chr12:48933350-48933351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs180850614	chr12:48933413-48933414	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs139712620	chr12:48933448-48933449	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs545381099	chr12:48933454-48933455	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs185000879	chr12:48933470-48933471	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs377273866	chr12:48933490-48933491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs567314667	chr12:48933505-48933506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs145186669	chr12:48933507-48933508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs577475957	chr12:48933511-48933512	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs11168619	chr12:48933605-48933606	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:70)

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
T-cell prolymphocytic leukemia	19278963	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
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	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
Adenoid cystic carcinoma	18332873	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	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
Hodgkin''s lymphoma	18641027	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	16616336	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD
Breast cancer	22522925	CNVD
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48924400-48927800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
2	chr12:48924600-48927800	Enhancers	Primary T helper naive cells from peripheral blood	blood
3	chr12:48925200-48927800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr12:48925200-48928000	Enhancers	Primary T helper cells PMA-I stimulated	--
5	chr12:48926000-48927600	Enhancers	Primary T killer memory cells from peripheral blood	blood
6	chr12:48926600-48927800	Enhancers	Primary T cells from cord blood	blood
7	chr12:48927000-48927600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr12:48932800-48934400	Enhancers	K562	blood
9	chr12:48933000-48933400	Enhancers	GM12878-XiMat	blood
10	chr12:48933000-48934800	Enhancers	Hela-S3	cervix
11	chr12:48933400-48933800	Weak transcription	GM12878-XiMat	blood
12	chr12:48933800-48934400	Enhancers	GM12878-XiMat	blood
13	chr12:48933800-48934600	Enhancers	NHEK	skin
14	chr12:48934000-48934400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr12:48934000-48934400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr12:48934000-48934600	Enhancers	HMEC	breast
17	chr12:48939800-48940200	Enhancers	Brain Angular Gyrus	brain
18	chr12:48939800-48940200	Enhancers	Brain Cingulate Gyrus	brain
19	chr12:48946000-48947400	Weak transcription	Esophagus	oesophagus
20	chr12:48947200-48947400	Enhancers	K562	blood
21	chr12:48947400-48947600	Enhancers	Esophagus	oesophagus
22	chr12:48947400-48947600	Flanking Active TSS	K562	blood
23	chr12:48947600-48947800	Flanking Active TSS	Esophagus	oesophagus
24	chr12:48947600-48947800	Active TSS	K562	blood
25	chr12:48947600-48948000	Active TSS	Hela-S3	cervix
26	chr12:48947600-48948200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
27	chr12:48947800-48948000	Active TSS	Esophagus	oesophagus
28	chr12:48947800-48948200	Enhancers	K562	blood
29	chr12:48948000-48948400	Enhancers	Hela-S3	cervix
30	chr12:48948200-48949600	Weak transcription	K562	blood
31	chr12:48948200-48949800	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr12:48948800-48950000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr12:48949600-48950600	Enhancers	K562	blood
34	chr12:48949800-48950000	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr12:48949800-48950800	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr12:48950000-48950400	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr12:48950000-48950400	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr12:48950000-48951200	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr12:48950000-48951600	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr12:48950200-48950600	Enhancers	H1 Cell Line	embryonic stem cell
41	chr12:48950200-48951000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr12:48950400-48950600	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr12:48950400-48950800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr12:48950400-48950800	Enhancers	Spleen	Spleen
45	chr12:48950600-48950800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
46	chr12:48950600-48950800	Flanking Active TSS	K562	blood
47	chr12:48950800-48951000	Enhancers	K562	blood
48	chr12:48950800-48951200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
49	chr12:48950800-48951400	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr12:48950800-48951600	Enhancers	HUES6 Cell Line	embryonic stem cell

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