Variant report

Variant	nsv832390
Chromosome Location	chr12:44318071-44512114
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	chr12:44409240-44409513	K562	blood:	n/a	n/a
2	ARID3A	chr12:44409177-44409526	HepG2	liver:	n/a	n/a
3	ARID3A	chr12:44388974-44389689	HepG2	liver:	n/a	n/a
4	ARID3A	chr12:44358768-44359029	HepG2	liver:	n/a	n/a
5	ATF1	chr12:44475362-44475482	K562	blood:	n/a	n/a
6	ATF1	chr12:44351574-44351867	K562	blood:	n/a	n/a
7	ATF2	chr12:44415220-44415807	GM12878	blood:	n/a	n/a
8	ATF2	chr12:44415159-44415890	GM12878	blood:	n/a	n/a
9	BATF	chr12:44383037-44383241	GM12878	blood:	n/a	chr12:44383176-44383187 chr12:44383177-44383187
10	BATF	chr12:44382979-44383319	GM12878	blood:	n/a	chr12:44383176-44383187 chr12:44383177-44383187
11	BATF	chr12:44415233-44415762	GM12878	blood:	n/a	n/a
12	BCL11A	chr12:44415197-44415792	GM12878	blood:	n/a	n/a
13	BCLAF1	chr12:44409134-44409543	GM12878	blood:	n/a	n/a
14	BCLAF1	chr12:44415154-44415809	GM12878	blood:	n/a	n/a
15	BHLHE40	chr12:44415165-44415754	GM12878	blood:	n/a	n/a
16	BHLHE40	chr12:44367968-44368049	GM12878	blood:	n/a	n/a
17	BRCA1	chr12:44396336-44396349	Hela-S3	cervix:	n/a	n/a
18	BRCA1	chr12:44394238-44394440	HepG2	liver:	n/a	n/a
19	BRCA1	chr12:44447296-44448017	Hela-S3	cervix:	n/a	chr12:44447702-44447709
20	BRCA1	chr12:44353912-44353918	GM12878	blood:	n/a	n/a
21	CEBPB	chr12:44447719-44447744	A549	lung:	n/a	n/a
22	CEBPB	chr12:44495264-44495647	HepG2	liver:	n/a	chr12:44495450-44495459 chr12:44495450-44495459 chr12:44495450-44495459 chr12:44495450-44495459 chr12:44495448-44495459
23	CEBPB	chr12:44495215-44495706	ECC-1	luminal epithelium:	n/a	chr12:44495450-44495459 chr12:44495450-44495459 chr12:44495450-44495459 chr12:44495450-44495459 chr12:44495448-44495459
24	CEBPB	chr12:44388971-44389200	HepG2	liver:	n/a	n/a
25	CEBPB	chr12:44372415-44372716	HepG2	liver:	n/a	chr12:44372568-44372579
26	CEBPB	chr12:44375605-44375958	IMR90	lung:	n/a	chr12:44375782-44375793
27	CEBPB	chr12:44331048-44331365	IMR90	lung:	n/a	chr12:44331207-44331218
28	CEBPB	chr12:44445292-44445293	K562	blood:	n/a	n/a
29	CEBPB	chr12:44336291-44336531	IMR90	lung:	n/a	n/a
30	CEBPB	chr12:44372401-44372725	Hela-S3	cervix:	n/a	chr12:44372568-44372579
31	CEBPB	chr12:44495275-44495682	ECC-1	luminal epithelium:	n/a	chr12:44495450-44495459 chr12:44495450-44495459 chr12:44495450-44495459 chr12:44495450-44495459 chr12:44495448-44495459
32	CEBPB	chr12:44495264-44495616	H1-hESC	embryonic stem cell:	n/a	chr12:44495450-44495459 chr12:44495450-44495459 chr12:44495450-44495459 chr12:44495450-44495459 chr12:44495448-44495459
33	CEBPB	chr12:44375686-44375887	K562	blood:	n/a	chr12:44375782-44375793
34	CEBPB	chr12:44495288-44495653	MCF-7	breast:	n/a	chr12:44495450-44495459 chr12:44495450-44495459 chr12:44495450-44495459 chr12:44495450-44495459 chr12:44495448-44495459
35	CEBPB	chr12:44446384-44446675	HepG2	liver:	n/a	n/a
36	CEBPB	chr12:44446477-44446595	HepG2	liver:	n/a	n/a
37	CEBPB	chr12:44511047-44511491	Hela-S3	cervix:	n/a	chr12:44511255-44511266
38	CEBPB	chr12:44331055-44331353	A549	lung:	n/a	chr12:44331207-44331218
39	CEBPB	chr12:44495261-44495682	IMR90	lung:	n/a	chr12:44495450-44495459 chr12:44495450-44495459 chr12:44495450-44495459 chr12:44495450-44495459 chr12:44495448-44495459
40	CEBPB	chr12:44356809-44356988	HepG2	liver:	n/a	chr12:44356922-44356935
41	CEBPB	chr12:44375597-44376007	HepG2	liver:	n/a	chr12:44375782-44375793
42	CEBPB	chr12:44341199-44341494	HepG2	liver:	n/a	chr12:44341329-44341340
43	CEBPB	chr12:44388856-44389291	HepG2	liver:	n/a	n/a
44	CEBPB	chr12:44376765-44377026	HepG2	liver:	n/a	chr12:44376801-44376812
45	CEBPB	chr12:44375648-44375932	A549	lung:	n/a	chr12:44375782-44375793
46	CEBPB	chr12:44331048-44331363	HepG2	liver:	n/a	chr12:44331207-44331218
47	CEBPB	chr12:44372466-44372708	K562	blood:	n/a	chr12:44372568-44372579
48	CEBPB	chr12:44495261-44495642	A549	lung:	n/a	chr12:44495450-44495459 chr12:44495450-44495459 chr12:44495450-44495459 chr12:44495450-44495459 chr12:44495448-44495459
49	CEBPB	chr12:44511200-44511256	K562	blood:	n/a	n/a
50	CEBPB	chr12:44495233-44495696	A549	lung:	n/a	chr12:44495450-44495459 chr12:44495450-44495459 chr12:44495450-44495459 chr12:44495450-44495459 chr12:44495448-44495459

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:44413094-44413144	MCF-7	breast:	n/a
2	chr12:44410498-44410548	HRCEpiC	kidney:	n/a
3	chr12:44410498-44410548	HPAEpiC	pulmonary alveolar:	n/a
4	chr12:44421638-44421688	A549	lung:	n/a
5	chr12:44421638-44421688	GM12891	blood:	n/a
6	chr12:44410498-44410548	HCF	heart:	n/a
7	chr12:44421638-44421688	GM19239	blood:	n/a
8	chr12:44413094-44413144	T-47D	breast:	n/a
9	chr12:44410498-44410548	NHDF-neo	bronchial:	n/a
10	chr12:44413094-44413144	SAEC	small airway:	n/a
11	chr12:44413094-44413144	HMEC	breast:	n/a
12	chr12:44413094-44413144	Jurkat	blood:	n/a
13	chr12:44413094-44413144	BJ	skin:	n/a
14	chr12:44413094-44413144	IMR90	lung:	fetal
15	chr12:44410498-44410548	SAEC	small airway:	n/a
16	chr12:44410498-44410548	U87	brain:	n/a
17	chr12:44421638-44421688	HAEpiC	amniotic membrane:	n/a
18	chr12:44413094-44413144	Hela-S3	cervix:	n/a
19	chr12:44421638-44421688	MCF10A-Er-Src	breast:	n/a
20	chr12:44421638-44421688	PANC-1	pancreas:	n/a
21	chr12:44410498-44410548	H1-hESC	embryonic stem cell:	embryo
22	chr12:44413094-44413144	AG09309	skin:	n/a
23	chr12:44421638-44421688	AG04450	lung:	fetal
24	chr12:44413094-44413144	HEEpiC	esophagus:	n/a
25	chr12:44421638-44421688	HCT-116	colon:	n/a
26	chr12:44421638-44421688	SK-N-MC	brain:	n/a
27	chr12:44421638-44421688	GM06990	blood:	n/a
28	chr12:44413094-44413144	HRCEpiC	kidney:	n/a
29	chr12:44410498-44410548	SK-N-SH	brain:	n/a
30	chr12:44421638-44421688	HRCEpiC	kidney:	n/a
31	chr12:44410498-44410548	SK-N-SH_RA	brain:	n/a
32	chr12:44410498-44410548	CMK	blood:	n/a
33	chr12:44421638-44421688	HEK293	kidney:	embryo
34	chr12:44410498-44410548	K562	blood:	n/a
35	chr12:44413094-44413144	AG10803	skin:	n/a
36	chr12:44410498-44410548	A549	lung:	n/a
37	chr12:44410498-44410548	GM12878	blood:	n/a
38	chr12:44410498-44410548	BE2_C	brain:	n/a
39	chr12:44421638-44421688	ECC-1	luminal epithelium:	n/a
40	chr12:44410498-44410548	HRE	kidney:	n/a
41	chr12:44410498-44410548	RPTEC	kidney:	n/a
42	chr12:44410498-44410548	MCF10A-Er-Src	breast:	n/a
43	chr12:44413094-44413144	ECC-1	luminal epithelium:	n/a
44	chr12:44410498-44410548	IMR90	lung:	fetal
45	chr12:44410498-44410548	GM06990	blood:	n/a
46	chr12:44421638-44421688	BJ	skin:	n/a
47	chr12:44413094-44413144	SK-N-SH	brain:	n/a
48	chr12:44413094-44413144	HCM	heart:	n/a
49	chr12:44413094-44413144	AG09319	gingival:	n/a
50	chr12:44421638-44421688	Hela-S3	cervix:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:44446827..44449468-chr12:44449634..44452541,2	K562	blood:
2	chr12:44433437..44434185-chr7:139305396..139306017,2	MCF-7	breast:
3	chr12:44351332..44351888-chr12:45342306..45343125,2	MCF-7	breast:
4	chr12:44393907..44394577-chr12:45342454..45343052,2	MCF-7	breast:
5	chr12:44378394..44380087-chr12:44381679..44383181,2	MCF-7	breast:
6	chr12:44396911..44397707-chr12:45324896..45325406,2	MCF-7	breast:
7	chr12:44450654..44453609-chr12:44454497..44456502,2	K562	blood:
8	chr12:44379335..44381377-chr12:44388429..44391186,2	MCF-7	breast:
9	chr12:44393933..44394766-chr12:45324489..45325458,2	MCF-7	breast:
10	chr12:44397809..44398404-chrX:134418432..134418932,2	MCF-7	breast:
11	chr12:44408858..44409800-chr12:45267480..45268238,2	MCF-7	breast:
12	chr12:44351426..44352202-chr12:45324508..45325417,2	K562	blood:
13	chr10:25102094..25103026-chr12:44332750..44333622,2	MCF-7	breast:
14	chr12:44328892..44329557-chr4:151502231..151502998,2	MCF-7	breast:
15	chr12:44385802..44388469-chr12:44397794..44400628,2	MCF-7	breast:
16	chr12:44385802..44388469-chr12:44397794..44400628,2	MCF-7	breast:
17	chr12:44464525..44467032-chr12:44467847..44469939,2	K562	blood:
18	chr12:44464525..44467032-chr12:44467847..44469939,2	K562	blood:
19	chr12:44379335..44381377-chr12:44388429..44391186,2	MCF-7	breast:
20	chr12:44409231..44409847-chr12:45324739..45325375,2	MCF-7	breast:
21	chr12:44464953..44466951-chr12:44469834..44471344,2	MCF-7	breast:
22	chr12:44378394..44380087-chr12:44381679..44383181,2	MCF-7	breast:
23	chr12:44335007..44337258-chr12:44339871..44341553,2	K562	blood:
24	chr12:43184139..43186103-chr12:44487352..44490285,2	K562	blood:
25	chr12:44170285..44171047-chr12:44331536..44332137,2	K562	blood:
26	chr12:44164593..44166592-chr12:44359390..44361884,2	K562	blood:
27	chr12:44464953..44466951-chr12:44469834..44471344,2	MCF-7	breast:
28	chr12:44446827..44449468-chr12:44449634..44452541,2	K562	blood:
29	chr12:44450654..44453609-chr12:44454497..44456502,2	K562	blood:
30	chr12:44335007..44337258-chr12:44339871..44341553,2	K562	blood:
31	chr12:44308839..44309349-chr12:44331764..44332482,2	MCF-7	breast:
32	chr12:44310016..44313786-chr12:44314229..44318943,4	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TWF1-1	chr12:44402423-44403946	NONHSAT027810

Variant related genes	Relation type
TMEM117	TF binding region
ENSG00000258212	TF binding region
TMEM117	CpG island
ENSG00000258212	CpG island
ENSG00000198589	chromatin interactions

Extended variants
information (count: 6768 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:6768 , 50 per page) page: 1 2 3 4 5 6 7 ... 136

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572559819	chr12:44318098-44318099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs551060504	chr12:44318099-44318100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs569360802	chr12:44318133-44318134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs536674293	chr12:44318143-44318144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs60221557	chr12:44318175-44318176	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs34847458	chr12:44318263-44318264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs567196657	chr12:44318286-44318287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs139410681	chr12:44318326-44318327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs555240283	chr12:44318340-44318341	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs80107150	chr12:44318342-44318343	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs546531296	chr12:44318420-44318421	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs10785474	chr12:44318428-44318429	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs544381260	chr12:44318432-44318433	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs56105344	chr12:44318498-44318499	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs574190583	chr12:44318502-44318503	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs144233305	chr12:44318517-44318518	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550516566	chr12:44318525-44318526	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs78492872	chr12:44318557-44318558	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs141313201	chr12:44318577-44318578	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs11182334	chr12:44318590-44318591	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs369259099	chr12:44318605-44318606	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs370859372	chr12:44318632-44318633	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs10785476	chr12:44318633-44318634	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs191979466	chr12:44318650-44318651	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs559289489	chr12:44318651-44318652	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs73284248	chr12:44318696-44318697	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs548603432	chr12:44318703-44318704	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs10785477	chr12:44318723-44318724	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs185204192	chr12:44318724-44318725	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs7955667	chr12:44318739-44318740	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs571102424	chr12:44318741-44318742	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs189747268	chr12:44318761-44318762	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs556330034	chr12:44318773-44318774	Enhancers Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs181317239	chr12:44318804-44318805	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs541478107	chr12:44318815-44318816	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs553751891	chr12:44318856-44318857	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs142362898	chr12:44318877-44318878	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs151265567	chr12:44318897-44318898	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs564253387	chr12:44318914-44318915	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs1881927	chr12:44318922-44318923	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs543684754	chr12:44318928-44318929	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs561827131	chr12:44318929-44318930	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs117422273	chr12:44318940-44318941	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs118124777	chr12:44318941-44318942	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs1881926	chr12:44319047-44319048	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs527711521	chr12:44319050-44319051	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs571635267	chr12:44319055-44319056	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs374257082	chr12:44319057-44319058	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs12371940	chr12:44319060-44319061	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs528488442	chr12:44319097-44319098	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:65)

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
Breast cancer	21364760	CNVD
Ovarian cancer	21720365	CNVD
Schizophrenia	23813976	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Acute lymphoblastic leukemia	19039135	CNVD
Breast cancer	22522925	CNVD
Autism	21865298	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:641 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44307400-44324000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:44308400-44318400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr12:44311400-44324600	Weak transcription	Left Ventricle	heart
4	chr12:44315200-44324200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:44316000-44321200	Weak transcription	HSMMtube	muscle
6	chr12:44317400-44321200	Weak transcription	Fetal Intestine Large	intestine
7	chr12:44317600-44321400	Weak transcription	Fetal Intestine Small	intestine
8	chr12:44317600-44325400	Weak transcription	Rectal Smooth Muscle	rectum
9	chr12:44317800-44321600	Weak transcription	Fetal Stomach	stomach
10	chr12:44318400-44318600	Weak transcription	Esophagus	oesophagus
11	chr12:44318400-44319600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr12:44318600-44318800	Enhancers	H1 Cell Line	embryonic stem cell
13	chr12:44318600-44319000	ZNF genes & repeats	Esophagus	oesophagus
14	chr12:44318800-44319000	ZNF genes & repeats	Aorta	Aorta
15	chr12:44319000-44324200	Weak transcription	Aorta	Aorta
16	chr12:44319000-44325600	Weak transcription	Esophagus	oesophagus
17	chr12:44319600-44324200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr12:44324000-44325200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr12:44324200-44324800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr12:44324200-44325000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr12:44324200-44325000	ZNF genes & repeats	Aorta	Aorta
22	chr12:44324200-44325000	ZNF genes & repeats	Fetal Intestine Large	intestine
23	chr12:44324600-44324800	ZNF genes & repeats	Left Ventricle	heart
24	chr12:44324600-44325000	ZNF genes & repeats	Ovary	ovary
25	chr12:44324800-44325000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
26	chr12:44324800-44325400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr12:44324800-44352600	Weak transcription	Left Ventricle	heart
28	chr12:44325000-44330600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr12:44325000-44340800	Weak transcription	Aorta	Aorta
30	chr12:44325000-44341800	Weak transcription	Ovary	ovary
31	chr12:44325200-44342600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr12:44325400-44329600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr12:44326200-44326600	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
34	chr12:44326600-44347800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr12:44327400-44343000	Weak transcription	Fetal Intestine Small	intestine
36	chr12:44329600-44329800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr12:44329800-44330200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr12:44330200-44332000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr12:44330600-44331800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr12:44331800-44341800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr12:44332000-44337600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr12:44332200-44353200	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr12:44333000-44341600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr12:44335200-44336200	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr12:44335400-44336400	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr12:44335600-44336000	Enhancers	Pancreatic Islets	Pancreatic Islet
47	chr12:44335600-44336200	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr12:44335600-44336400	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr12:44335600-44336400	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr12:44335800-44336000	Enhancers	HSMMtube	muscle

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