Variant report

Variant	nsv819389
Chromosome Location	chr12:120880098-120882476
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:66)
CpG islands
(count:124)
Chromatin interactive
region (count:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:66 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr12:120882378-120882817	K562	blood:	n/a	n/a
2	CEBPB	chr12:120881435-120881614	K562	blood:	n/a	n/a
3	CEBPB	chr12:120882450-120882835	K562	blood:	n/a	n/a
4	CEBPB	chr12:120882471-120882821	A549	lung:	n/a	n/a
5	POLR2A	chr12:120880460-120881395	HepG2	liver:	n/a	n/a
6	POLR2A	chr12:120881321-120881369	K562	blood:	n/a	n/a
7	POLR2A	chr12:120880499-120881336	K562	blood:	n/a	n/a
8	POLR2A	chr12:120880507-120881362	HepG2	liver:	n/a	n/a
9	POLR2A	chr12:120880792-120881067	GM12892	blood:	n/a	n/a
10	POLR2A	chr12:120881618-120881634	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr12:120881643-120881651	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr12:120880459-120880761	HepG2	liver:	n/a	n/a
13	POLR2A	chr12:120880605-120880669	MCF10A-Er-Src	breast:	n/a	n/a
14	POLR2A	chr12:120880989-120881173	K562	blood:	n/a	n/a
15	POLR2A	chr12:120881088-120881096	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr12:120880813-120881070	GM12891	blood:	n/a	n/a
17	POLR2A	chr12:120881588-120884497	K562	blood:	n/a	n/a
18	POLR2A	chr12:120882246-120882384	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr12:120880480-120881636	GM12878	blood:	n/a	n/a
20	POLR2A	chr12:120882264-120882433	HepG2	liver:	n/a	n/a
21	POLR2A	chr12:120880337-120880736	K562	blood:	n/a	n/a
22	POLR2A	chr12:120880789-120881440	K562	blood:	n/a	n/a
23	POLR2A	chr12:120880794-120880801	HepG2	liver:	n/a	n/a
24	POLR2A	chr12:120880956-120880968	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr12:120880779-120881036	HUVEC	blood vessel:	n/a	n/a
26	POLR2A	chr12:120881456-120881659	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr12:120880378-120881281	HUVEC	blood vessel:	n/a	n/a
28	POLR2A	chr12:120880757-120881433	K562	blood:	n/a	n/a
29	POLR2A	chr12:120880536-120881004	MCF-7	breast:	n/a	n/a
30	POLR2A	chr12:120881836-120882146	MCF-7	breast:	n/a	n/a
31	POLR2A	chr12:120880690-120880713	K562	blood:	n/a	n/a
32	POLR2A	chr12:120880530-120880612	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr12:120880668-120880687	HUVEC	blood vessel:	n/a	n/a
34	POLR2A	chr12:120880216-120881309	PFSK-1	brain:	n/a	n/a
35	POLR2A	chr12:120881629-120883159	PFSK-1	brain:	n/a	n/a
36	POLR2A	chr12:120881869-120882195	K562	blood:	n/a	n/a
37	POLR2A	chr12:120881718-120882224	GM12878	blood:	n/a	n/a
38	POLR2A	chr12:120880838-120881093	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr12:120880359-120880515	HUVEC	blood vessel:	n/a	n/a
40	POLR2A	chr12:120880384-120881396	GM12892	blood:	n/a	n/a
41	POLR2A	chr12:120880850-120881040	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr12:120881801-120882111	HCT-116	colon:	n/a	n/a
43	POLR2A	chr12:120882007-120882133	HUVEC	blood vessel:	n/a	n/a
44	POLR2A	chr12:120880817-120882159	HepG2	liver:	n/a	n/a
45	POLR2A	chr12:120880965-120881070	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chr12:120880391-120880986	SK-N-SH	brain:	n/a	n/a
47	POLR2A	chr12:120881756-120882140	GM12878	blood:	n/a	n/a
48	POLR2A	chr12:120881879-120882119	K562	blood:	n/a	n/a
49	POLR2A	chr12:120880851-120881047	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr12:120881224-120881279	K562	blood:	n/a	n/a

(count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:120882378-120882428	HEEpiC	esophagus:	n/a
2	chr12:120882378-120882428	SK-N-MC	brain:	n/a
3	chr12:120882378-120882428	HEEpiC	esophagus:	n/a
4	chr12:120882378-120882428	SK-N-MC	brain:	n/a
5	chr12:120882378-120882428	NH-A	brain:	n/a
6	chr12:120880522-120880572	HAEpiC	amniotic membrane:	n/a
7	chr12:120880522-120880572	BE2_C	brain:	n/a
8	chr12:120880522-120880572	IMR90	lung:	fetal
9	chr12:120880522-120880572	T-47D	breast:	n/a
10	chr12:120880522-120880572	AG10803	skin:	n/a
11	chr12:120882378-120882428	RPTEC	kidney:	n/a
12	chr12:120880522-120880572	HMEC	breast:	n/a
13	chr12:120882378-120882428	HPAEpiC	pulmonary alveolar:	n/a
14	chr12:120880522-120880572	Caco-2	colon:	n/a
15	chr12:120882378-120882428	NB4	blood:	n/a
16	chr12:120882378-120882428	IMR90	lung:	fetal
17	chr12:120880522-120880572	HepG2	liver:	n/a
18	chr12:120880522-120880572	ProgFib	skin:	n/a
19	chr12:120880522-120880572	SAEC	small airway:	n/a
20	chr12:120880522-120880572	HNPCEpiC	eye:	n/a
21	chr12:120882378-120882428	SK-N-SH_RA	brain:	n/a
22	chr12:120880522-120880572	HRCEpiC	kidney:	n/a
23	chr12:120880522-120880572	SKMC	muscle:	n/a
24	chr12:120880522-120880572	GM19239	blood:	n/a
25	chr12:120880522-120880572	U87	brain:	n/a
26	chr12:120880522-120880572	NHDF-neo	bronchial:	n/a
27	chr12:120882378-120882428	AG04450	lung:	fetal
28	chr12:120882378-120882428	HUVEC	blood vessel:	n/a
29	chr12:120882378-120882428	BE2_C	brain:	n/a
30	chr12:120882378-120882428	HL-60	blood:	n/a
31	chr12:120880522-120880572	HRE	kidney:	n/a
32	chr12:120882378-120882428	ECC-1	luminal epithelium:	n/a
33	chr12:120880522-120880572	AG09319	gingival:	n/a
34	chr12:120882378-120882428	PANC-1	pancreas:	n/a
35	chr12:120882378-120882428	AG04449	skin:	fetal
36	chr12:120880522-120880572	A549	lung:	n/a
37	chr12:120880522-120880572	HCPEpiC	choroid plexus:	n/a
38	chr12:120882378-120882428	Hepatocyte	liver:	n/a
39	chr12:120882378-120882428	Hela-S3	cervix:	n/a
40	chr12:120880522-120880572	NHBE	bronchial:	n/a
41	chr12:120880522-120880572	PFSK-1	brain:	n/a
42	chr12:120880522-120880572	BJ	skin:	n/a
43	chr12:120880522-120880572	CMK	blood:	n/a
44	chr12:120880522-120880572	K562	blood:	n/a
45	chr12:120882378-120882428	HEK293	kidney:	embryo
46	chr12:120880522-120880572	HIPEpiC	eye:	n/a
47	chr12:120882378-120882428	LNCaP	prostate:	n/a
48	chr12:120882378-120882428	HRCEpiC	kidney:	n/a
49	chr12:120882378-120882428	SK-N-SH	brain:	n/a
50	chr12:120882378-120882428	NHBE	bronchial:	n/a

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:120728088..120729982-chr12:120880353..120882117,2	K562	blood:
2	chr12:120881273..120884035-chr12:120898335..120900526,2	K562	blood:
3	chr12:120769968..120772533-chr12:120880637..120882245,2	MCF-7	breast:
4	chr12:120882042..120885526-chr12:120971268..120975128,6	K562	blood:
5	chr12:120881121..120885738-chr12:120933710..120938677,7	MCF-7	breast:
6	chr12:120877548..120880154-chr12:120905733..120907532,2	MCF-7	breast:
7	chr12:120879789..120885007-chr12:120906681..120910772,6	K562	blood:
8	chr12:120880538..120882085-chr12:120906058..120908502,2	MCF-7	breast:
9	chr12:120881316..120885805-chr12:120906046..120909209,6	MCF-7	breast:
10	chr12:120794486..120796567-chr12:120881836..120883706,2	MCF-7	breast:
11	chr12:120754074..120755627-chr12:120881986..120884098,2	K562	blood:
12	chr12:120879804..120882085-chr12:120900465..120903221,2	K562	blood:
13	chr12:120880785..120883723-chr12:120932657..120934399,2	K562	blood:
14	chr12:120882311..120884725-chr12:120900864..120902535,2	K562	blood:
15	chr12:120882311..120884900-chr12:120901035..120902974,2	K562	blood:
16	chr12:120836022..120837604-chr12:120880612..120883429,2	MCF-7	breast:
17	chr12:120761952..120764940-chr12:120881221..120882781,2	K562	blood:
18	chr12:120761038..120763452-chr12:120881221..120883807,2	K562	blood:
19	chr12:120882261..120885066-chr12:120932076..120935293,3	K562	blood:
20	chr12:120880802..120886804-chr12:120903895..120909908,12	K562	blood:
21	chr12:120871367..120873867-chr12:120881238..120883410,2	K562	blood:
22	chr12:120635810..120640156-chr12:120882395..120885946,4	K562	blood:
23	chr12:120728284..120732232-chr12:120880260..120886911,13	MCF-7	breast:

No data

Variant related genes	Relation type
GATC	TF binding region
GATC	CpG island
ENSG00000022840	chromatin interactions
ENSG00000111786	chromatin interactions
ENSG00000255857	chromatin interactions
ENSG00000110871	chromatin interactions
ENSG00000170890	chromatin interactions
ENSG00000202538	chromatin interactions
ENSG00000200795	chromatin interactions
ENSG00000089157	chromatin interactions
ENSG00000248008	chromatin interactions
ENSG00000088986	chromatin interactions

Extended variants
information (count: 79 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:79 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs561891749	chr12:120880115-120880116	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs7308053	chr12:120880133-120880134	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs372560109	chr12:120880197-120880198	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs543714626	chr12:120880199-120880200	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs188403823	chr12:120880254-120880255	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs532611766	chr12:120880261-120880262	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs180869161	chr12:120880313-120880314	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
8	rs572366946	chr12:120880321-120880322	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
9	rs374220562	chr12:120880332-120880333	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
10	rs528610665	chr12:120880384-120880385	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs184880568	chr12:120880394-120880395	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs147114822	chr12:120880396-120880397	Weak transcription Strong transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs138522696	chr12:120880420-120880421	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs1151878	chr12:120880424-120880425	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs17431357	chr12:120880434-120880435	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
16	rs539679007	chr12:120880441-120880442	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs1151879	chr12:120880478-120880479	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs368952172	chr12:120880528-120880529	Strong transcription Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs80129810	chr12:120880558-120880559	Strong transcription Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
20	rs190562423	chr12:120880560-120880561	Strong transcription Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs541375384	chr12:120880561-120880562	Strong transcription Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs57281538	chr12:120880566-120880567	Strong transcription Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs12310837	chr12:120880572-120880573	Strong transcription Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs543702261	chr12:120880583-120880584	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs1151846	chr12:120880606-120880607	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs182332404	chr12:120880620-120880621	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs186901453	chr12:120880621-120880622	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs11065126	chr12:120880707-120880708	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs371562246	chr12:120880734-120880735	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs75778144	chr12:120880891-120880892	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs144006433	chr12:120880892-120880893	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs78823597	chr12:120880893-120880894	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs79069641	chr12:120880894-120880895	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs542314357	chr12:120881036-120881037	Strong transcription Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs191973791	chr12:120881049-120881050	Strong transcription Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs530969119	chr12:120881069-120881070	Strong transcription Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs559766547	chr12:120881070-120881071	Strong transcription Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs570788069	chr12:120881165-120881166	Strong transcription Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs182920492	chr12:120881193-120881194	Strong transcription Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs376021313	chr12:120881199-120881200	Strong transcription Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs528489836	chr12:120881241-120881242	Strong transcription Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
42	rs546442521	chr12:120881281-120881282	Strong transcription Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
43	rs1151845	chr12:120881288-120881289	Strong transcription Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs535156000	chr12:120881291-120881292	Strong transcription Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
45	rs185743419	chr12:120881329-120881330	Strong transcription Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
46	rs116122632	chr12:120881348-120881349	Strong transcription Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
47	rs537479197	chr12:120881502-120881503	Strong transcription Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
48	rs557356734	chr12:120881545-120881546	Strong transcription Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
49	rs577091054	chr12:120881549-120881550	Strong transcription Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
50	rs539756740	chr12:120881550-120881551	Strong transcription Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:72)

Disease	PMID	Source
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
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
T-cell prolymphocytic leukemia	19278963	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
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16397240	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Urothelial carcinoma	21177765	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chordoma	18071362	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:251 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120876400-120883400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:120876800-120881800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:120876800-120883400	Weak transcription	Esophagus	oesophagus
4	chr12:120877000-120880400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr12:120877000-120880600	Weak transcription	Aorta	Aorta
6	chr12:120877000-120881200	Weak transcription	Psoas Muscle	Psoas
7	chr12:120877000-120883000	Weak transcription	Pancreas	Pancrea
8	chr12:120877000-120883200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr12:120877200-120881000	Weak transcription	Gastric	stomach
10	chr12:120877200-120882000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:120877200-120882000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr12:120877200-120883000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr12:120877200-120883200	Weak transcription	Rectal Smooth Muscle	rectum
14	chr12:120877400-120880600	Weak transcription	Right Ventricle	heart
15	chr12:120877400-120882800	Strong transcription	Fetal Muscle Trunk	muscle
16	chr12:120877600-120880400	Weak transcription	Fetal Kidney	kidney
17	chr12:120877600-120880600	Weak transcription	NHLF	lung
18	chr12:120877800-120882000	Strong transcription	Fetal Stomach	stomach
19	chr12:120877800-120882200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr12:120877800-120882600	Strong transcription	Left Ventricle	heart
21	chr12:120877800-120883400	Weak transcription	Stomach Mucosa	stomach
22	chr12:120878000-120880200	Weak transcription	Colonic Mucosa	Colon
23	chr12:120878000-120881800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr12:120878000-120881800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr12:120878000-120882000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr12:120878000-120882000	Weak transcription	NH-A	brain
27	chr12:120878000-120882200	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr12:120878000-120882400	Strong transcription	Primary B cells from peripheral blood	blood
29	chr12:120878000-120882600	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr12:120878000-120882600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
31	chr12:120878000-120882600	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr12:120878000-120882600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr12:120878000-120882600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr12:120878000-120882600	Strong transcription	Placenta	Placenta
35	chr12:120878000-120882600	Strong transcription	Rectal Mucosa Donor 31	rectum
36	chr12:120878000-120882600	Strong transcription	Sigmoid Colon	Sigmoid Colon
37	chr12:120878000-120882800	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr12:120878000-120882800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr12:120878000-120882800	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr12:120878000-120882800	Strong transcription	Fetal Thymus	thymus
41	chr12:120878000-120883000	Strong transcription	Fetal Muscle Leg	muscle
42	chr12:120878000-120883200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr12:120878000-120883200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr12:120878000-120883200	Weak transcription	Fetal Brain Male	brain
45	chr12:120878000-120883200	Weak transcription	Right Atrium	heart
46	chr12:120878000-120883400	Weak transcription	Small Intestine	intestine
47	chr12:120878200-120880400	Weak transcription	Primary hematopoietic stem cells	blood
48	chr12:120878200-120880400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr12:120878200-120880400	Weak transcription	Brain Angular Gyrus	brain
50	chr12:120878200-120880600	Weak transcription	Primary B cells from cord blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links