Variant report

Variant	nsv558790
Chromosome Location	chr12:48529168-48539888
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:87)
CpG islands
(count:122)
Chromatin interactive
region (count:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:3)

(count:87 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr12:48536694-48537457	H1-hESC	embryonic stem cell:	n/a	n/a
2	BACH1	chr12:48537110-48537112	H1-hESC	embryonic stem cell:	n/a	n/a
3	BACH1	chr12:48537772-48538080	H1-hESC	embryonic stem cell:	n/a	n/a
4	CEBPB	chr12:48537121-48537243	H1-hESC	embryonic stem cell:	n/a	n/a
5	CHD2	chr12:48536569-48537967	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr12:48537780-48537930	Hela-S3	cervix:	n/a	n/a
7	CTCF	chr12:48537760-48537910	HEK293	kidney:	n/a	n/a
8	CTCF	chr12:48537780-48537930	HepG2	liver:	n/a	n/a
9	CTCF	chr12:48537760-48537910	HCPEpiC	choroid plexus:	n/a	n/a
10	CTCF	chr12:48537680-48537830	HMEC	breast:	n/a	n/a
11	CTCF	chr12:48537820-48537970	NHDF-neo	bronchial:	n/a	n/a
12	CTCF	chr12:48537760-48537910	RPTEC	kidney:	n/a	n/a
13	CTCF	chr12:48537560-48537710	RPTEC	kidney:	n/a	n/a
14	CTCF	chr12:48537760-48537910	MCF-7	breast:	n/a	n/a
15	CTCF	chr12:48537680-48537830	HCPEpiC	choroid plexus:	n/a	n/a
16	CTCF	chr12:48537740-48537890	AG04449	skin:	n/a	n/a
17	CTCF	chr12:48537720-48537870	NHEK	skin:	n/a	n/a
18	CTCF	chr12:48537700-48537850	Caco-2	colon:	n/a	n/a
19	CTCF	chr12:48537760-48537910	NHEK	skin:	n/a	n/a
20	CTCF	chr12:48537680-48537830	HPF	lung:	n/a	n/a
21	CTCF	chr12:48537740-48537890	AG10803	skin:	n/a	n/a
22	CTCF	chr12:48537740-48537890	MCF-7	breast:	n/a	n/a
23	E2F4	chr12:48530062-48530186	MCF10A-Er-Src	breast:	n/a	n/a
24	E2F4	chr12:48538694-48538782	MCF10A-Er-Src	breast:	n/a	n/a
25	FAM48A	chr12:48538117-48538229	GM12878	blood:	n/a	n/a
26	GATA1	chr12:48539426-48540282	PBDE	blood:	n/a	chr12:48539901-48539910 chr12:48539999-48540009
27	GTF2F1	chr12:48536689-48537202	H1-hESC	embryonic stem cell:	n/a	n/a
28	MAFF	chr12:48530035-48530212	HepG2	liver:	n/a	n/a
29	MAFK	chr12:48530039-48530164	HepG2	liver:	n/a	chr12:48530092-48530107
30	MAFK	chr12:48530042-48530183	HepG2	liver:	n/a	chr12:48530092-48530107
31	MAFK	chr12:48537025-48537407	H1-hESC	embryonic stem cell:	n/a	n/a
32	MAX	chr12:48537749-48538096	H1-hESC	embryonic stem cell:	n/a	n/a
33	MAX	chr12:48537719-48538103	H1-hESC	embryonic stem cell:	n/a	n/a
34	MAX	chr12:48537701-48538110	H1-hESC	embryonic stem cell:	n/a	n/a
35	MAX	chr12:48536787-48537461	H1-hESC	embryonic stem cell:	n/a	n/a
36	MXI1	chr12:48537113-48537554	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr12:48534224-48534276	K562	blood:	n/a	n/a
38	POLR2A	chr12:48532727-48532735	GM12878	blood:	n/a	n/a
39	POLR2A	chr12:48536558-48536899	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr12:48536493-48536733	K562	blood:	n/a	n/a
41	POLR2A	chr12:48537920-48537970	MCF-7	breast:	n/a	n/a
42	POLR2A	chr12:48537840-48537939	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr12:48533020-48533039	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr12:48535255-48535264	HepG2	liver:	n/a	n/a
45	POLR2A	chr12:48532655-48532683	GM12878	blood:	n/a	n/a
46	POLR2A	chr12:48537207-48537348	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr12:48537736-48537975	K562	blood:	n/a	n/a
48	POLR2A	chr12:48539392-48539515	K562	blood:	n/a	n/a
49	POLR2A	chr12:48537657-48538349	SK-N-MC	brain:	n/a	n/a
50	POLR2A	chr12:48536410-48537499	H1-hESC	embryonic stem cell:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:48536604-48536654	GM12891	blood:	n/a
2	chr12:48539468-48539518	HMEC	breast:	n/a
3	chr12:48536604-48536654	GM12878	blood:	n/a
4	chr12:48536604-48536654	SKMC	muscle:	n/a
5	chr12:48539468-48539518	HEK293	kidney:	embryo
6	chr12:48536604-48536654	MCF-7	breast:	n/a
7	chr12:48536604-48536654	HNPCEpiC	eye:	n/a
8	chr12:48536604-48536654	AG09309	skin:	n/a
9	chr12:48539468-48539518	PrEC	prostate:	n/a
10	chr12:48536604-48536654	AG10803	skin:	n/a
11	chr12:48539468-48539518	GM19239	blood:	n/a
12	chr12:48539468-48539518	ECC-1	luminal epithelium:	n/a
13	chr12:48536604-48536654	T-47D	breast:	n/a
14	chr12:48536604-48536654	HIPEpiC	eye:	n/a
15	chr12:48536604-48536654	ovcar-3	ovarian:	n/a
16	chr12:48536604-48536654	HCT-116	colon:	n/a
17	chr12:48536604-48536654	HMEC	breast:	n/a
18	chr12:48536604-48536654	ProgFib	skin:	n/a
19	chr12:48536604-48536654	A549	lung:	n/a
20	chr12:48536604-48536654	HCF	heart:	n/a
21	chr12:48539468-48539518	GM12878	blood:	n/a
22	chr12:48539468-48539518	HepG2	liver:	n/a
23	chr12:48539468-48539518	U87	brain:	n/a
24	chr12:48539468-48539518	HRCEpiC	kidney:	n/a
25	chr12:48539468-48539518	NH-A	brain:	n/a
26	chr12:48539468-48539518	ProgFib	skin:	n/a
27	chr12:48536604-48536654	H1-hESC	embryonic stem cell:	embryo
28	chr12:48536604-48536654	HUVEC	blood vessel:	n/a
29	chr12:48536604-48536654	BJ	skin:	n/a
30	chr12:48536604-48536654	K562	blood:	n/a
31	chr12:48536604-48536654	U87	brain:	n/a
32	chr12:48536604-48536654	BE2_C	brain:	n/a
33	chr12:48536604-48536654	IMR90	lung:	fetal
34	chr12:48539468-48539518	HEEpiC	esophagus:	n/a
35	chr12:48536604-48536654	HEK293	kidney:	embryo
36	chr12:48539468-48539518	HPAEpiC	pulmonary alveolar:	n/a
37	chr12:48536604-48536654	GM12892	blood:	n/a
38	chr12:48539468-48539518	AG04449	skin:	fetal
39	chr12:48539468-48539518	Caco-2	colon:	n/a
40	chr12:48539468-48539518	SK-N-SH_RA	brain:	n/a
41	chr12:48536604-48536654	SK-N-MC	brain:	n/a
42	chr12:48536604-48536654	SK-N-SH_RA	brain:	n/a
43	chr12:48536604-48536654	NHDF-neo	bronchial:	n/a
44	chr12:48536604-48536654	NH-A	brain:	n/a
45	chr12:48536604-48536654	PANC-1	pancreas:	n/a
46	chr12:48539468-48539518	SAEC	small airway:	n/a
47	chr12:48539468-48539518	HCF	heart:	n/a
48	chr12:48539468-48539518	T-47D	breast:	n/a
49	chr12:48539468-48539518	Jurkat	blood:	n/a
50	chr12:48539468-48539518	NT2-D1	testis:	n/a

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:48536767..48541851-chr12:48541890..48543935,4	MCF-7	breast:
2	chr12:48525679..48529309-chr12:48532044..48535896,3	K562	blood:
3	chr12:48530127..48532875-chr12:48538480..48541109,2	K562	blood:
4	chr12:48524259..48525822-chr12:48531923..48533830,2	MCF-7	breast:
5	chr12:48529206..48530822-chr12:48539347..48541084,2	MCF-7	breast:
6	chr12:48530838..48533486-chr12:48533641..48536474,3	K562	blood:
7	chr12:48531947..48534928-chr12:48535593..48537352,2	MCF-7	breast:
8	chr12:48534151..48536064-chr12:48536887..48539029,3	K562	blood:
9	chr12:48527054..48529468-chr12:48538732..48540822,3	K562	blood:
10	chr12:48529206..48530822-chr12:48539347..48541084,2	MCF-7	breast:
11	chr12:48523386..48526206-chr12:48526341..48529296,3	K562	blood:
12	chr12:48537781..48542389-chr12:48543120..48545726,5	K562	blood:
13	chr12:48527054..48529468-chr12:48538732..48540822,3	K562	blood:
14	chr12:48518431..48521304-chr12:48539772..48542684,2	K562	blood:
15	chr12:48530838..48533486-chr12:48533641..48536474,3	K562	blood:
16	chr12:48518675..48521479-chr12:48527987..48530696,2	K562	blood:
17	chr12:48527797..48530620-chr12:48531013..48533171,2	MCF-7	breast:
18	chr12:48503303..48504914-chr12:48527767..48530328,2	MCF-7	breast:
19	chr12:48512550..48515165-chr12:48537351..48539003,2	MCF-7	breast:
20	chr12:48530838..48532658-chr12:48534908..48536474,2	K562	blood:
21	chr12:48530838..48532658-chr12:48534908..48536474,2	K562	blood:

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location
1	PFKM	hsa-miR-320a	chr12:48539768-48539789
2	PFKM	hsa-miR-320a	chr12:48539687-48539707
3	PFKM	hsa-miR-320a	chr12:48539783-48539789

Variant related genes	Relation type
PFKM	TF binding region
PFKM	CpG island
ENSG00000152556	chromatin interactions
ENSG00000177981	chromatin interactions

Extended variants
information (count: 420 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:420 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112163675	chr12:48529168-48529169	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs112524709	chr12:48529169-48529170	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs375982432	chr12:48529180-48529181	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs369375272	chr12:48529209-48529210	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs184861460	chr12:48529212-48529213	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs564623830	chr12:48529228-48529229	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs533292319	chr12:48529270-48529271	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs34737106	chr12:48529348-48529349	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs549845771	chr12:48529367-48529368	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs568759976	chr12:48529384-48529385	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs531359999	chr12:48529390-48529391	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs55752728	chr12:48529394-48529395	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs73302836	chr12:48529430-48529431	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs140029354	chr12:48529453-48529454	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs143537136	chr12:48529516-48529517	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs10219623	chr12:48529549-48529550	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs570413677	chr12:48529556-48529557	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs539201323	chr12:48529571-48529572	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs541962502	chr12:48529617-48529618	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs556289750	chr12:48529660-48529661	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs538555965	chr12:48529664-48529665	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs576712992	chr12:48529678-48529679	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs146399624	chr12:48529686-48529687	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs80140486	chr12:48529696-48529697	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs78294086	chr12:48529698-48529699	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs77966213	chr12:48529699-48529700	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs78099010	chr12:48529700-48529701	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs79336782	chr12:48529702-48529703	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs75261947	chr12:48529703-48529704	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs75333732	chr12:48529705-48529706	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs79751478	chr12:48529708-48529709	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs78575533	chr12:48529709-48529710	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs76706444	chr12:48529711-48529712	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs547953148	chr12:48529712-48529713	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs10219645	chr12:48529737-48529738	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs527625623	chr12:48529742-48529743	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs547662171	chr12:48529747-48529748	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs139739588	chr12:48529752-48529753	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs376196948	chr12:48529768-48529769	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs571628282	chr12:48529860-48529861	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs539391861	chr12:48529871-48529872	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs144488860	chr12:48529882-48529883	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs79485260	chr12:48529916-48529917	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs536074421	chr12:48529949-48529950	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs368012298	chr12:48529950-48529951	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs141041167	chr12:48529996-48529997	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs554311963	chr12:48530039-48530040	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs149907778	chr12:48530081-48530082	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs535046386	chr12:48530105-48530106	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs558385007	chr12:48530110-48530111	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
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
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
Anaplastic thyroid cancer	18753363	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD

Chromatin state (count:419 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48514000-48536600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr12:48514000-48537200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:48515600-48535600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
4	chr12:48515800-48535600	Strong transcription	HUES48 Cell Line	embryonic stem cell
5	chr12:48515800-48545600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr12:48516200-48529600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr12:48516200-48545400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr12:48516200-48547200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr12:48516400-48529400	Strong transcription	Ovary	ovary
10	chr12:48516400-48529600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:48516400-48535600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:48516400-48535800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
13	chr12:48516400-48542000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr12:48516400-48545000	Strong transcription	GM12878-XiMat	blood
15	chr12:48516400-48545400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr12:48516400-48545800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr12:48516400-48547200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr12:48516400-48547200	Strong transcription	Stomach Smooth Muscle	stomach
19	chr12:48516400-48547800	Strong transcription	Fetal Stomach	stomach
20	chr12:48516600-48536600	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr12:48516600-48543200	Weak transcription	Stomach Mucosa	stomach
22	chr12:48516600-48545400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:48516600-48545600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr12:48516800-48529400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr12:48516800-48530400	Strong transcription	Osteobl	bone
26	chr12:48516800-48547400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr12:48517200-48529600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr12:48517600-48547400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr12:48518200-48529800	Strong transcription	H1 Cell Line	embryonic stem cell
30	chr12:48518600-48547600	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr12:48519600-48547200	Strong transcription	Primary B cells from peripheral blood	blood
32	chr12:48519800-48529800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr12:48520000-48529400	Strong transcription	NHEK	skin
34	chr12:48520000-48545600	Strong transcription	Hela-S3	cervix
35	chr12:48520600-48529400	Strong transcription	Fetal Muscle Trunk	muscle
36	chr12:48520600-48529600	Strong transcription	HSMM	muscle
37	chr12:48520600-48529800	Strong transcription	Brain Germinal Matrix	brain
38	chr12:48520800-48547400	Strong transcription	Fetal Brain Female	brain
39	chr12:48521000-48529400	Strong transcription	Brain Anterior Caudate	brain
40	chr12:48521400-48529600	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr12:48522000-48529400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr12:48522400-48534400	Weak transcription	NHDF-Ad	bronchial
43	chr12:48522600-48529400	Strong transcription	Aorta	Aorta
44	chr12:48522600-48529600	Strong transcription	Rectal Mucosa Donor 31	rectum
45	chr12:48522600-48532800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr12:48522800-48530200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr12:48523000-48529400	Strong transcription	Fetal Lung	lung
48	chr12:48523200-48529200	Strong transcription	Primary T cells from cord blood	blood
49	chr12:48523200-48529200	Strong transcription	Colon Smooth Muscle	Colon
50	chr12:48523200-48529200	Strong transcription	Rectal Smooth Muscle	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links