Variant report

Variant	esv1840625
Chromosome Location	chr12:40497095-40499908
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:378)
CpG islands
(count:245)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:378 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:40498119-40498288	K562	blood:	n/a	n/a
2	ARID3A	chr12:40498779-40498912	K562	blood:	n/a	n/a
3	ATF3	chr12:40499744-40499987	K562	blood:	n/a	chr12:40499976-40499985
4	BACH1	chr12:40499710-40499852	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr12:40498672-40498821	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr12:40498670-40498870	K562	blood:	n/a	n/a
7	BHLHE40	chr12:40498650-40500176	HepG2	liver:	n/a	chr12:40499900-40499909
8	BHLHE40	chr12:40499733-40500047	A549	lung:	n/a	chr12:40499900-40499909
9	BHLHE40	chr12:40499729-40500060	HepG2	liver:	n/a	chr12:40499900-40499909
10	BHLHE40	chr12:40499148-40500152	GM12878	blood:	n/a	chr12:40499900-40499909
11	BHLHE40	chr12:40498581-40500322	K562	blood:	n/a	chr12:40499900-40499909
12	CBX3	chr12:40498540-40498991	K562	blood:	n/a	n/a
13	CCNT2	chr12:40498953-40500070	K562	blood:	n/a	n/a
14	CEBPB	chr12:40499734-40500440	Hela-S3	cervix:	n/a	n/a
15	CEBPD	chr12:40499709-40499945	HepG2	liver:	n/a	n/a
16	CHD1	chr12:40499504-40499654	H1-hESC	embryonic stem cell:	n/a	n/a
17	CHD1	chr12:40499382-40499523	GM12878	blood:	n/a	n/a
18	CHD2	chr12:40499657-40499819	HepG2	liver:	n/a	n/a
19	CHD2	chr12:40498723-40498889	K562	blood:	n/a	chr12:40498850-40498860
20	CHD2	chr12:40498606-40499137	GM12878	blood:	n/a	chr12:40498850-40498860
21	CHD2	chr12:40499445-40499943	GM12878	blood:	n/a	chr12:40499881-40499891 chr12:40499847-40499857
22	CHD2	chr12:40498701-40500266	Hela-S3	cervix:	n/a	chr12:40498850-40498860 chr12:40499881-40499891 chr12:40499847-40499857
23	CHD2	chr12:40499108-40499848	K562	blood:	n/a	n/a
24	CREB1	chr12:40499023-40499614	A549	lung:	n/a	n/a
25	CREB1	chr12:40499618-40500115	A549	lung:	n/a	n/a
26	CREB1	chr12:40499005-40500250	HepG2	liver:	n/a	n/a
27	CTCF	chr12:40499229-40499247	MCF-7	breast:	n/a	n/a
28	CTCF	chr12:40499284-40499352	Spleen_OC	spleen:	n/a	n/a
29	CTCF	chr12:40499380-40499530	GM12871	blood:	n/a	n/a
30	CTCF	chr12:40499550-40499560	Spleen_OC	spleen:	n/a	n/a
31	CTCF	chr12:40499740-40499890	GM12872	blood:	n/a	n/a
32	CTCF	chr12:40499740-40499890	SK-N-SH_RA	brain:	n/a	n/a
33	CTCF	chr12:40499380-40499530	GM12866	blood:	n/a	n/a
34	CTCF	chr12:40499560-40499710	HUVEC	blood vessel:	n/a	n/a
35	CTCF	chr12:40499180-40499330	Caco-2	colon:	n/a	n/a
36	CTCF	chr12:40499486-40499524	LNCaP	prostate:	n/a	n/a
37	CTCF	chr12:40499200-40499350	AG09319	gingival:	n/a	n/a
38	CTCF	chr12:40499360-40499510	Hela-S3	cervix:	n/a	n/a
39	CTCF	chr12:40499040-40499190	SAEC	small airway:	n/a	n/a
40	CTCF	chr12:40499480-40499630	GM12867	blood:	n/a	n/a
41	CTCF	chr12:40499040-40499190	HepG2	liver:	n/a	n/a
42	CTCF	chr12:40499560-40499710	AG04450	lung:	n/a	n/a
43	CTCF	chr12:40499779-40499961	Spleen_OC	spleen:	n/a	n/a
44	CTCF	chr12:40499829-40499870	GM19239	blood:	n/a	n/a
45	CTCF	chr12:40499176-40499179	MCF-7	breast:	n/a	n/a
46	CTCF	chr12:40499680-40499830	GM12869	blood:	n/a	n/a
47	CTCF	chr12:40499483-40499484	LNCaP	prostate:	n/a	n/a
48	CTCF	chr12:40499740-40499890	AG04449	skin:	n/a	n/a
49	CTCF	chr12:40499340-40499490	SK-N-SH_RA	brain:	n/a	n/a
50	CTCF	chr12:40499761-40499948	K562	blood:	n/a	n/a

(count:245 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:40499623-40499673	AG10803	skin:	n/a
2	chr12:40499623-40499673	AG10803	skin:	n/a
3	chr12:40499262-40499312	HEK293	kidney:	embryo
4	chr12:40499262-40499312	SK-N-SH_RA	brain:	n/a
5	chr12:40497575-40497625	SAEC	small airway:	n/a
6	chr12:40499811-40499861	HEK293	kidney:	embryo
7	chr12:40497575-40497625	MCF-7	breast:	n/a
8	chr12:40499623-40499673	HPAEpiC	pulmonary alveolar:	n/a
9	chr12:40497575-40497625	GM19239	blood:	n/a
10	chr12:40499623-40499673	AG04449	skin:	fetal
11	chr12:40499623-40499673	T-47D	breast:	n/a
12	chr12:40499811-40499861	GM12878	blood:	n/a
13	chr12:40499623-40499673	NH-A	brain:	n/a
14	chr12:40499262-40499312	NH-A	brain:	n/a
15	chr12:40499262-40499312	HCT-116	colon:	n/a
16	chr12:40499623-40499673	Hepatocyte	liver:	n/a
17	chr12:40497575-40497625	PFSK-1	brain:	n/a
18	chr12:40497575-40497625	HCT-116	colon:	n/a
19	chr12:40499623-40499673	BJ	skin:	n/a
20	chr12:40499811-40499861	ovcar-3	ovarian:	n/a
21	chr12:40499262-40499312	ECC-1	luminal epithelium:	n/a
22	chr12:40499811-40499861	T-47D	breast:	n/a
23	chr12:40497575-40497625	HNPCEpiC	eye:	n/a
24	chr12:40497575-40497625	ProgFib	skin:	n/a
25	chr12:40499262-40499312	HMEC	breast:	n/a
26	chr12:40499811-40499861	CMK	blood:	n/a
27	chr12:40499811-40499861	HCT-116	colon:	n/a
28	chr12:40499623-40499673	AG04450	lung:	fetal
29	chr12:40499262-40499312	HepG2	liver:	n/a
30	chr12:40499262-40499312	SAEC	small airway:	n/a
31	chr12:40499623-40499673	SKMC	muscle:	n/a
32	chr12:40499623-40499673	HCM	heart:	n/a
33	chr12:40499262-40499312	U87	brain:	n/a
34	chr12:40497575-40497625	BE2_C	brain:	n/a
35	chr12:40499262-40499312	AG04449	skin:	fetal
36	chr12:40499262-40499312	A549	lung:	n/a
37	chr12:40499623-40499673	H1-hESC	embryonic stem cell:	embryo
38	chr12:40499623-40499673	ovcar-3	ovarian:	n/a
39	chr12:40499811-40499861	MCF-7	breast:	n/a
40	chr12:40499811-40499861	SK-N-MC	brain:	n/a
41	chr12:40499811-40499861	GM12892	blood:	n/a
42	chr12:40499623-40499673	Hela-S3	cervix:	n/a
43	chr12:40499811-40499861	HIPEpiC	eye:	n/a
44	chr12:40497575-40497625	SK-N-SH	brain:	n/a
45	chr12:40499623-40499673	HMEC	breast:	n/a
46	chr12:40499262-40499312	HL-60	blood:	n/a
47	chr12:40499623-40499673	HepG2	liver:	n/a
48	chr12:40499623-40499673	HUVEC	blood vessel:	n/a
49	chr12:40497575-40497625	GM12878	blood:	n/a
50	chr12:40499623-40499673	ProgFib	skin:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:39835235..39837376-chr12:40497652..40499874,2	K562	blood:
2	chr12:40494859..40496427-chr12:40496570..40499467,2	MCF-7	breast:
3	chr11:62607295..62609623-chr12:40497021..40499693,2	MCF-7	breast:
4	chr12:40495644..40497821-chr12:40498343..40500336,2	MCF-7	breast:

No data

Variant related genes	Relation type
SLC2A13	TF binding region
SLC2A13	CpG island
ENSG00000133316	chromatin interactions
ENSG00000252974	chromatin interactions
ENSG00000151229	chromatin interactions
ENSG00000139116	chromatin interactions

Extended variants
information (count: 116 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:116 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10784370	chr12:40497095-40497096	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs535491295	chr12:40497122-40497123	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs189417620	chr12:40497131-40497132	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs550600795	chr12:40497176-40497177	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs565501024	chr12:40497179-40497180	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs539420197	chr12:40497181-40497182	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs114611401	chr12:40497209-40497210	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs575919050	chr12:40497265-40497266	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs543344122	chr12:40497287-40497288	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs193047568	chr12:40497368-40497369	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs573800913	chr12:40497376-40497377	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs55689602	chr12:40497415-40497416	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs115355693	chr12:40497469-40497470	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs28365178	chr12:40497497-40497498	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs76157149	chr12:40497508-40497509	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs79605372	chr12:40497510-40497511	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs545412582	chr12:40497513-40497514	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs563708869	chr12:40497535-40497536	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs185219609	chr12:40497536-40497537	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs531209804	chr12:40497576-40497577	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs144076260	chr12:40497603-40497604	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs374646975	chr12:40497615-40497616	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs189669457	chr12:40497643-40497644	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs12371122	chr12:40497719-40497720	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs17489652	chr12:40497731-40497732	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs539762656	chr12:40497732-40497733	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs547133070	chr12:40497756-40497757	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs201151994	chr12:40497781-40497782	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs139423348	chr12:40497782-40497783	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs181268610	chr12:40497788-40497789	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs557312001	chr12:40497833-40497834	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs186731710	chr12:40497842-40497843	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs931207	chr12:40497883-40497884	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs200987311	chr12:40497943-40497944	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs188229909	chr12:40497954-40497955	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs573712067	chr12:40497976-40497977	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs145041881	chr12:40498049-40498050	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs552933647	chr12:40498156-40498157	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs180968986	chr12:40498173-40498174	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs545547971	chr12:40498186-40498187	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs17483628	chr12:40498190-40498191	Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs530946514	chr12:40498223-40498224	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs111283106	chr12:40498228-40498229	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs534012194	chr12:40498240-40498241	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs555479531	chr12:40498268-40498269	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs1472118	chr12:40498326-40498327	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs544152193	chr12:40498428-40498429	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs562747931	chr12:40498448-40498449	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs552409998	chr12:40498488-40498489	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
50	rs564138847	chr12:40498489-40498490	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Cancer	20164919	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
Autism	20858243	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Cancer	20164920	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:403 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:40466400-40498200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:40475400-40497200	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr12:40476400-40497400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:40476600-40498400	Weak transcription	Fetal Stomach	stomach
5	chr12:40476800-40497800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:40482000-40497800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr12:40487000-40497400	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr12:40488200-40498600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr12:40492400-40498600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr12:40492800-40497600	Weak transcription	Left Ventricle	heart
11	chr12:40492800-40498000	Weak transcription	Gastric	stomach
12	chr12:40492800-40498600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr12:40492800-40498600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr12:40492800-40498600	Weak transcription	Lung	lung
15	chr12:40493800-40497400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr12:40493800-40497400	Weak transcription	Fetal Heart	heart
17	chr12:40494200-40498000	Weak transcription	Fetal Lung	lung
18	chr12:40494200-40498200	Weak transcription	A549	lung
19	chr12:40494600-40498000	Weak transcription	NHLF	lung
20	chr12:40495200-40497400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr12:40495400-40498000	Enhancers	Small Intestine	intestine
22	chr12:40495800-40497600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr12:40495800-40497600	Enhancers	Colon Smooth Muscle	Colon
24	chr12:40496400-40497200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr12:40496400-40497800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr12:40496600-40497800	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr12:40496800-40497200	Enhancers	Pancreas	Pancrea
28	chr12:40496800-40497200	Active TSS	Rectal Mucosa Donor 29	rectum
29	chr12:40496800-40497200	Flanking Active TSS	K562	blood
30	chr12:40496800-40497400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr12:40496800-40497400	Enhancers	Fetal Intestine Small	intestine
32	chr12:40496800-40497600	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr12:40496800-40497600	Enhancers	Fetal Intestine Large	intestine
34	chr12:40496800-40497800	Enhancers	HepG2	liver
35	chr12:40496800-40498400	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr12:40496800-40498600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr12:40496800-40498600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr12:40496800-40499000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
39	chr12:40496800-40500400	Active TSS	Stomach Smooth Muscle	stomach
40	chr12:40496800-40501600	Active TSS	Brain Cingulate Gyrus	brain
41	chr12:40496800-40501600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr12:40496800-40501600	Active TSS	Pancreatic Islets	Pancreatic Islet
43	chr12:40497000-40497200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr12:40497000-40497200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr12:40497000-40497200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr12:40497000-40497200	Flanking Active TSS	Duodenum Mucosa	Duodenum
47	chr12:40497000-40497200	Enhancers	Ovary	ovary
48	chr12:40497000-40497200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
49	chr12:40497000-40497400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr12:40497000-40497400	Flanking Active TSS	Brain Anterior Caudate	brain

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