Variant report

Variant	esv3409292
Chromosome Location	chr12:117613281-117638743
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:649)
CpG islands
(count:1220)
Chromatin interactive
region (count:29)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:649 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:117628068-117628388	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:117630143-117630332	HepG2	liver:	n/a	n/a
3	ATF2	chr12:117628317-117628658	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr12:117628211-117628505	H1-hESC	embryonic stem cell:	n/a	n/a
5	BATF	chr12:117618562-117618817	GM12878	blood:	n/a	chr12:117618709-117618720
6	BCL3	chr12:117627961-117628653	A549	lung:	n/a	chr12:117628275-117628288
7	BCLAF1	chr12:117628016-117628465	GM12878	blood:	n/a	chr12:117628275-117628288
8	BHLHE40	chr12:117628020-117628510	HepG2	liver:	n/a	chr12:117628396-117628412
9	BHLHE40	chr12:117628039-117628578	K562	blood:	n/a	chr12:117628396-117628412
10	BHLHE40	chr12:117628030-117628472	GM12878	blood:	n/a	chr12:117628396-117628412
11	BHLHE40	chr12:117627458-117627779	K562	blood:	n/a	n/a
12	BRCA1	chr12:117628223-117628451	Hela-S3	cervix:	n/a	n/a
13	BRCA1	chr12:117627274-117627501	H1-hESC	embryonic stem cell:	n/a	n/a
14	CBX3	chr12:117618880-117619218	K562	blood:	n/a	n/a
15	CBX3	chr12:117631749-117632109	K562	blood:	n/a	n/a
16	CCNT2	chr12:117627544-117628483	K562	blood:	n/a	n/a
17	CEBPB	chr12:117620656-117621106	A549	lung:	n/a	chr12:117620848-117620859
18	CEBPB	chr12:117620700-117621000	K562	blood:	n/a	chr12:117620848-117620859
19	CEBPB	chr12:117626218-117626460	K562	blood:	n/a	chr12:117626300-117626311
20	CEBPB	chr12:117626186-117626448	HepG2	liver:	n/a	chr12:117626300-117626311
21	CEBPB	chr12:117626152-117626350	A549	lung:	n/a	chr12:117626300-117626311
22	CEBPB	chr12:117620687-117621005	A549	lung:	n/a	chr12:117620848-117620859
23	CEBPB	chr12:117626207-117626466	H1-hESC	embryonic stem cell:	n/a	chr12:117626300-117626311
24	CEBPB	chr12:117626229-117626351	HepG2	liver:	n/a	chr12:117626300-117626311
25	CEBPB	chr12:117620766-117620950	HepG2	liver:	n/a	chr12:117620848-117620859
26	CEBPB	chr12:117626221-117626425	K562	blood:	n/a	chr12:117626300-117626311
27	CEBPB	chr12:117620653-117621035	MCF-7	breast:	n/a	chr12:117620848-117620859
28	CEBPB	chr12:117620646-117620990	HepG2	liver:	n/a	chr12:117620848-117620859
29	CEBPB	chr12:117620676-117621033	IMR90	lung:	n/a	chr12:117620848-117620859
30	CEBPB	chr12:117629135-117629224	HepG2	liver:	n/a	chr12:117629166-117629177
31	CEBPB	chr12:117626133-117626459	IMR90	lung:	n/a	chr12:117626300-117626311
32	CEBPB	chr12:117620671-117621045	HepG2	liver:	n/a	chr12:117620848-117620859
33	CEBPB	chr12:117620684-117620985	Hela-S3	cervix:	n/a	chr12:117620848-117620859
34	CEBPD	chr12:117628136-117628495	HepG2	liver:	n/a	n/a
35	CEBPD	chr12:117620689-117620920	HepG2	liver:	n/a	n/a
36	CEBPD	chr12:117628174-117628386	HepG2	liver:	n/a	n/a
37	CEBPD	chr12:117620752-117620954	HepG2	liver:	n/a	n/a
38	CHD1	chr12:117628014-117628223	H1-hESC	embryonic stem cell:	n/a	n/a
39	CHD1	chr12:117627356-117627699	H1-hESC	embryonic stem cell:	n/a	n/a
40	CHD2	chr12:117627690-117627800	HepG2	liver:	n/a	n/a
41	CHD2	chr12:117628027-117628237	K562	blood:	n/a	n/a
42	CHD2	chr12:117628045-117628427	H1-hESC	embryonic stem cell:	n/a	n/a
43	CHD2	chr12:117629767-117630160	H1-hESC	embryonic stem cell:	n/a	n/a
44	CHD2	chr12:117628034-117628487	Hela-S3	cervix:	n/a	n/a
45	CHD2	chr12:117628013-117628206	HepG2	liver:	n/a	n/a
46	CHD2	chr12:117627685-117627721	Hela-S3	cervix:	n/a	n/a
47	CREB1	chr12:117627413-117628637	HepG2	liver:	n/a	n/a
48	CREB1	chr12:117627970-117628529	A549	lung:	n/a	n/a
49	CREB1	chr12:117627539-117628532	GM12878	blood:	n/a	n/a
50	CREB1	chr12:117627976-117628492	H1-hESC	embryonic stem cell:	n/a	n/a

(count:1220 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:117630719-117630769	NHDF-neo	bronchial:	n/a
2	chr12:117627464-117627514	HPAEpiC	pulmonary alveolar:	n/a
3	chr12:117628347-117628397	NB4	blood:	n/a
4	chr12:117628463-117628513	HRE	kidney:	n/a
5	chr12:117626777-117626827	PFSK-1	brain:	n/a
6	chr12:117628187-117628237	AG09309	skin:	n/a
7	chr12:117628187-117628237	HEEpiC	esophagus:	n/a
8	chr12:117628520-117628570	HepG2	liver:	n/a
9	chr12:117628463-117628513	GM12878	blood:	n/a
10	chr12:117627651-117627701	RPTEC	kidney:	n/a
11	chr12:117628469-117628519	Jurkat	blood:	n/a
12	chr12:117627286-117627336	HUVEC	blood vessel:	n/a
13	chr12:117626777-117626827	NHBE	bronchial:	n/a
14	chr12:117627464-117627514	HMEC	breast:	n/a
15	chr12:117628578-117628628	PANC-1	pancreas:	n/a
16	chr12:117628469-117628519	AG04450	lung:	fetal
17	chr12:117624653-117624703	HCPEpiC	choroid plexus:	n/a
18	chr12:117627286-117627336	GM12891	blood:	n/a
19	chr12:117630719-117630769	A549	lung:	n/a
20	chr12:117627651-117627701	HCPEpiC	choroid plexus:	n/a
21	chr12:117628487-117628537	GM12878	blood:	n/a
22	chr12:117627478-117627528	AG09309	skin:	n/a
23	chr12:117628520-117628570	AoSMC	blood vessel:	n/a
24	chr12:117627897-117627947	BE2_C	brain:	n/a
25	chr12:117628578-117628628	H1-hESC	embryonic stem cell:	embryo
26	chr12:117627133-117627183	HNPCEpiC	eye:	n/a
27	chr12:117628589-117628639	GM12891	blood:	n/a
28	chr12:117627223-117627273	HEEpiC	esophagus:	n/a
29	chr12:117628589-117628639	PFSK-1	brain:	n/a
30	chr12:117628578-117628628	AoSMC	blood vessel:	n/a
31	chr12:117627450-117627500	NHBE	bronchial:	n/a
32	chr12:117628463-117628513	GM19239	blood:	n/a
33	chr12:117613954-117614004	NHDF-neo	bronchial:	n/a
34	chr12:117628578-117628628	CMK	blood:	n/a
35	chr12:117627223-117627273	SK-N-SH_RA	brain:	n/a
36	chr12:117630719-117630769	HL-60	blood:	n/a
37	chr12:117613954-117614004	LNCaP	prostate:	n/a
38	chr12:117628578-117628628	Jurkat	blood:	n/a
39	chr12:117626777-117626827	Jurkat	blood:	n/a
40	chr12:117624653-117624703	K562	blood:	n/a
41	chr12:117627464-117627514	AG04450	lung:	fetal
42	chr12:117628487-117628537	HCPEpiC	choroid plexus:	n/a
43	chr12:117628187-117628237	HL-60	blood:	n/a
44	chr12:117626777-117626827	IMR90	lung:	fetal
45	chr12:117627478-117627528	K562	blood:	n/a
46	chr12:117628187-117628237	NHBE	bronchial:	n/a
47	chr12:117627478-117627528	ProgFib	skin:	n/a
48	chr12:117628578-117628628	HAEpiC	amniotic membrane:	n/a
49	chr12:117627133-117627183	HEK293	kidney:	embryo
50	chr12:117627286-117627336	HEEpiC	esophagus:	n/a

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:117619225..117621566-chr12:117623434..117626120,2	MCF-7	breast:
2	chr12:117620005..117621839-chr12:117627991..117629764,2	MCF-7	breast:
3	chr12:117594472..117596198-chr12:117621574..117623321,2	K562	blood:
4	chr12:117611828..117614265-chr12:117616763..117619473,3	K562	blood:
5	chr12:117616880..117620516-chr12:117626730..117630376,5	K562	blood:
6	chr12:117604447..117607084-chr12:117615834..117618486,2	MCF-7	breast:
7	chr12:117606578..117609339-chr12:117613213..117615452,2	K562	blood:
8	chr12:117611249..117613740-chr12:117613939..117616846,3	MCF-7	breast:
9	chr12:117618719..117620255-chr12:117621421..117622933,2	MCF-7	breast:
10	chr12:117615421..117617257-chr12:117618416..117620789,2	MCF-7	breast:
11	chr12:117627165..117629540-chr12:118540302..118543294,2	MCF-7	breast:
12	chr12:117592833..117593531-chr12:117627067..117627588,2	MCF-7	breast:
13	chr12:117611828..117614265-chr12:117616763..117619473,3	K562	blood:
14	chr12:117619225..117621566-chr12:117623434..117626120,2	MCF-7	breast:
15	chr12:117618719..117620255-chr12:117621421..117622933,2	MCF-7	breast:
16	chr12:117621580..117624392-chr12:117625961..117628023,2	K562	blood:
17	chr12:117612768..117619869-chr12:117625654..117629590,13	MCF-7	breast:
18	chr12:117600913..117606514-chr12:117609706..117614136,6	MCF-7	breast:
19	chr12:117603513..117606038-chr12:117617594..117619506,2	K562	blood:
20	chr12:117608161..117610702-chr12:117612350..117614705,2	K562	blood:
21	chr12:117624519..117626038-chr12:117626822..117628477,2	MCF-7	breast:
22	chr12:117616960..117620689-chr12:117621446..117624982,5	K562	blood:
23	chr12:117611249..117613740-chr12:117613939..117616846,3	MCF-7	breast:
24	chr12:117616960..117620689-chr12:117621446..117624982,5	K562	blood:
25	chr12:117621447..117623322-chr12:117627669..117629286,2	MCF-7	breast:
26	chr1:40723245..40724204-chr12:117627875..117628424,2	HCT-116	colon:
27	chr12:117606727..117609238-chr12:117612177..117615270,4	MCF-7	breast:
28	chr12:117615421..117617257-chr12:117618416..117620789,2	MCF-7	breast:
29	chr12:117610469..117613124-chr12:117617825..117619883,2	MCF-7	breast:

No data

Variant related genes	Relation type
FBXO21	TF binding region
FBXO21	CpG island
ENSG00000135108	chromatin interactions
ENSG00000084073	chromatin interactions
ENSG00000176834	chromatin interactions
ENSG00000259943	chromatin interactions

Extended variants
information (count: 1085 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:1085 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10850789	chr12:117613312-117613313	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs529265555	chr12:117613333-117613334	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs142097303	chr12:117613339-117613340	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs146396350	chr12:117613354-117613355	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs562871309	chr12:117613362-117613363	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs576072395	chr12:117613402-117613403	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs544745168	chr12:117613422-117613423	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs10850790	chr12:117613440-117613441	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs572026455	chr12:117613448-117613449	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs113150713	chr12:117613497-117613498	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs35008462	chr12:117613499-117613500	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs115707843	chr12:117613522-117613523	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs561552365	chr12:117613540-117613541	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs530375286	chr12:117613546-117613547	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs138460158	chr12:117613567-117613568	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs12161811	chr12:117613583-117613584	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs11611445	chr12:117613683-117613684	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs183012382	chr12:117613689-117613690	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs11068387	chr12:117613706-117613707	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs188666517	chr12:117613767-117613768	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs147794039	chr12:117613771-117613772	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs565840009	chr12:117613847-117613848	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs549111471	chr12:117613851-117613852	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs149568721	chr12:117613883-117613884	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs548218959	chr12:117613884-117613885	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs567530290	chr12:117613907-117613908	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs144223383	chr12:117613955-117613956	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs200184688	chr12:117613994-117613995	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs372684208	chr12:117613997-117613998	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs4766833	chr12:117614077-117614078	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs115815202	chr12:117614140-117614141	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs558642669	chr12:117614208-117614209	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs572208739	chr12:117614246-117614247	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs549363825	chr12:117614273-117614274	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs560897796	chr12:117614322-117614323	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs575064022	chr12:117614330-117614331	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs543725921	chr12:117614348-117614349	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs558966244	chr12:117614408-117614409	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs59583452	chr12:117614410-117614411	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs556171836	chr12:117614412-117614413	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs184943482	chr12:117614414-117614415	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs368839359	chr12:117614449-117614450	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs559412546	chr12:117614492-117614493	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs61626101	chr12:117614498-117614499	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
45	rs188114730	chr12:117614526-117614527	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs7133234	chr12:117614531-117614532	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs558439185	chr12:117614552-117614553	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs530955968	chr12:117614565-117614566	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs549760541	chr12:117614583-117614584	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs200793699	chr12:117614645-117614646	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

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	17603634	CNVD
Breast cancer	16397240	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Neuroblastoma	20406844	CNVD
Medulloblastoma	16783165	CNVD
mental retardation	16760730	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Lung adenocarcinoma	21045234	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD

Chromatin state (count:1024 , 50 per page) page: 1 2 3 4 5 6 7 ... 21

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117578200-117617200	Strong transcription	Fetal Stomach	stomach
2	chr12:117579000-117618200	Strong transcription	Thymus	Thymus
3	chr12:117579200-117623000	Strong transcription	Primary T cells from cord blood	blood
4	chr12:117579400-117616800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr12:117580000-117625000	Strong transcription	Primary T cells fromperipheralblood	blood
6	chr12:117580000-117626800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr12:117580400-117618800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr12:117580600-117625600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr12:117581200-117618400	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr12:117581200-117624600	Strong transcription	Duodenum Mucosa	Duodenum
11	chr12:117581400-117624200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr12:117581400-117625800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr12:117581600-117618800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr12:117582200-117623400	Strong transcription	Rectal Mucosa Donor 31	rectum
15	chr12:117582200-117625800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr12:117582400-117624400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr12:117585600-117619000	Strong transcription	Primary B cells from peripheral blood	blood
18	chr12:117585600-117619800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr12:117585800-117625600	Strong transcription	Primary T helper cells PMA-I stimulated	--
20	chr12:117588800-117618800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:117588800-117619000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr12:117589400-117623600	Strong transcription	Duodenum Smooth Muscle	Duodenum
23	chr12:117589600-117614600	Strong transcription	Lung	lung
24	chr12:117589600-117619400	Strong transcription	Brain Germinal Matrix	brain
25	chr12:117589800-117618800	Strong transcription	Fetal Brain Female	brain
26	chr12:117590000-117626200	Strong transcription	HUES48 Cell Line	embryonic stem cell
27	chr12:117590200-117618800	Strong transcription	Fetal Muscle Trunk	muscle
28	chr12:117590200-117626800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr12:117590600-117616600	Strong transcription	Fetal Muscle Leg	muscle
30	chr12:117590600-117618200	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr12:117590600-117618400	Strong transcription	Adipose Nuclei	Adipose
32	chr12:117590600-117619000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr12:117590600-117619400	Strong transcription	Fetal Lung	lung
34	chr12:117590600-117625400	Strong transcription	Sigmoid Colon	Sigmoid Colon
35	chr12:117590600-117625600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr12:117590600-117625600	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr12:117590600-117625800	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr12:117590800-117619600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr12:117590800-117623400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr12:117590800-117625200	Strong transcription	Brain Anterior Caudate	brain
41	chr12:117591000-117620200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
42	chr12:117591000-117624600	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr12:117593400-117619000	Strong transcription	Dnd41	blood
44	chr12:117593600-117619400	Strong transcription	Fetal Thymus	thymus
45	chr12:117593800-117625000	Strong transcription	H1 Cell Line	embryonic stem cell
46	chr12:117593800-117625600	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr12:117593800-117625600	Strong transcription	Placenta	Placenta
48	chr12:117593800-117625800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr12:117594000-117625800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
50	chr12:117597600-117624400	Strong transcription	Fetal Intestine Large	intestine

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links