Variant report

Variant	esv2754509
Chromosome Location	chr12:83133090-83203742
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:420)
CpG islands
(count:183)
Chromatin interactive
region (count:33)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:420 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BRCA1	chr12:83135545-83135595	Hela-S3	cervix:	n/a	n/a
2	CBX3	chr12:83133940-83134745	HCT-116	colon:	n/a	n/a
3	CBX3	chr12:83134036-83134678	HCT-116	colon:	n/a	n/a
4	CBX3	chr12:83146181-83146525	HCT-116	colon:	n/a	n/a
5	CEBPB	chr12:83150939-83151111	H1-hESC	embryonic stem cell:	n/a	chr12:83151078-83151089
6	CEBPB	chr12:83151027-83151139	HepG2	liver:	n/a	chr12:83151078-83151089 chr12:83151103-83151116
7	CEBPB	chr12:83190246-83190494	HepG2	liver:	n/a	chr12:83190395-83190408 chr12:83190395-83190406 chr12:83190397-83190408 chr12:83190392-83190409 chr12:83190395-83190408 chr12:83190395-83190408
8	CHD2	chr12:83187792-83187999	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTCF	chr12:83146260-83146410	HFF-Myc	foreskin:	n/a	n/a
10	CTCF	chr12:83152677-83152776	NHEK	skin:	n/a	n/a
11	CTCF	chr12:83146620-83146770	GM06990	blood:	n/a	n/a
12	CTCF	chr12:83165863-83165948	Lung_OC	lung:	n/a	n/a
13	CTCF	chr12:83146220-83146370	GM12875	blood:	n/a	n/a
14	CTCF	chr12:83146220-83146370	AG09319	gingival:	n/a	n/a
15	CTCF	chr12:83146280-83146430	HBMEC	blood vessel:	n/a	n/a
16	CTCF	chr12:83146236-83146382	MCF-7	breast:	n/a	n/a
17	CTCF	chr12:83146320-83146470	HVMF	connective:	n/a	n/a
18	CTCF	chr12:83146232-83146425	HepG2	liver:	n/a	n/a
19	CTCF	chr12:83146220-83146370	GM12878	blood:	n/a	n/a
20	CTCF	chr12:83146277-83146380	Fibrobl	skin:	n/a	n/a
21	CTCF	chr12:83152646-83152795	MCF-7	breast:	n/a	n/a
22	CTCF	chr12:83146240-83146390	GM12867	blood:	n/a	n/a
23	CTCF	chr12:83146289-83146366	GM13977	blood:	n/a	n/a
24	CTCF	chr12:83146260-83146410	HUVEC	blood vessel:	n/a	n/a
25	CTCF	chr12:83146280-83146430	K562	blood:	n/a	n/a
26	CTCF	chr12:83146260-83146410	HPF	lung:	n/a	n/a
27	CTCF	chr12:83146260-83146410	MCF-7	breast:	n/a	n/a
28	CTCF	chr12:83164920-83165070	AoAF	blood vessel:	n/a	n/a
29	CTCF	chr12:83164900-83164939	LNCaP	prostate:	n/a	n/a
30	CTCF	chr12:83152560-83152710	HPAF	blood vessel:	n/a	n/a
31	CTCF	chr12:83146300-83146450	GM06990	blood:	n/a	n/a
32	CTCF	chr12:83146280-83146430	GM12864	blood:	n/a	n/a
33	CTCF	chr12:83146240-83146390	BJ	skin:	n/a	n/a
34	CTCF	chr12:83146280-83146430	HRPEpiC	eye:	n/a	n/a
35	CTCF	chr12:83146300-83146450	AG10803	skin:	n/a	n/a
36	CTCF	chr12:83146220-83146370	HAc	cerebellar:	n/a	n/a
37	CTCF	chr12:83152500-83152650	HMEC	breast:	n/a	n/a
38	CTCF	chr12:83146213-83146437	MCF-7	breast:	n/a	n/a
39	CTCF	chr12:83146276-83146438	K562	blood:	n/a	n/a
40	CTCF	chr12:83146620-83146719	MCF-7	breast:	n/a	n/a
41	CTCF	chr12:83146299-83146844	GM12878	blood:	n/a	n/a
42	CTCF	chr12:83146287-83146370	GM20000	blood:	n/a	n/a
43	CTCF	chr12:83146214-83146506	HepG2	liver:	n/a	n/a
44	CTCF	chr12:83146675-83146713	Medullo	brain:	n/a	n/a
45	CTCF	chr12:83146280-83146430	HepG2	liver:	n/a	n/a
46	CTCF	chr12:83152640-83152790	MCF-7	breast:	n/a	n/a
47	CTCF	chr12:83146300-83146450	GM12870	blood:	n/a	n/a
48	CTCF	chr12:83152480-83152630	HEEpiC	esophagus:	n/a	n/a
49	CTCF	chr12:83146260-83146410	GM12875	blood:	n/a	n/a
50	CTCF	chr12:83146162-83146506	K562	blood:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:83150597-83150647	ECC-1	luminal epithelium:	n/a
2	chr12:83178545-83178595	HRPEpiC	eye:	n/a
3	chr12:83178545-83178595	HCF	heart:	n/a
4	chr12:83178545-83178595	Caco-2	colon:	n/a
5	chr12:83176430-83176480	GM12891	blood:	n/a
6	chr12:83176430-83176480	AG09319	gingival:	n/a
7	chr12:83178545-83178595	K562	blood:	n/a
8	chr12:83176430-83176480	HUVEC	blood vessel:	n/a
9	chr12:83150597-83150647	PANC-1	pancreas:	n/a
10	chr12:83150597-83150647	MCF-7	breast:	n/a
11	chr12:83178545-83178595	H1-hESC	embryonic stem cell:	embryo
12	chr12:83150597-83150647	HepG2	liver:	n/a
13	chr12:83178545-83178595	AG10803	skin:	n/a
14	chr12:83150597-83150647	BE2_C	brain:	n/a
15	chr12:83150597-83150647	MCF10A-Er-Src	breast:	n/a
16	chr12:83150597-83150647	NT2-D1	testis:	n/a
17	chr12:83150597-83150647	CMK	blood:	n/a
18	chr12:83176430-83176480	BJ	skin:	n/a
19	chr12:83176430-83176480	Caco-2	colon:	n/a
20	chr12:83176430-83176480	NHBE	bronchial:	n/a
21	chr12:83150597-83150647	AG04450	lung:	fetal
22	chr12:83150597-83150647	HUVEC	blood vessel:	n/a
23	chr12:83178545-83178595	HRCEpiC	kidney:	n/a
24	chr12:83178545-83178595	RPTEC	kidney:	n/a
25	chr12:83176430-83176480	MCF10A-Er-Src	breast:	n/a
26	chr12:83176430-83176480	SKMC	muscle:	n/a
27	chr12:83178545-83178595	AG09319	gingival:	n/a
28	chr12:83178545-83178595	SAEC	small airway:	n/a
29	chr12:83178545-83178595	Hepatocyte	liver:	n/a
30	chr12:83176430-83176480	HIPEpiC	eye:	n/a
31	chr12:83178545-83178595	SK-N-SH	brain:	n/a
32	chr12:83176430-83176480	HEK293	kidney:	embryo
33	chr12:83150597-83150647	Hela-S3	cervix:	n/a
34	chr12:83150597-83150647	NHDF-neo	bronchial:	n/a
35	chr12:83150597-83150647	HCPEpiC	choroid plexus:	n/a
36	chr12:83150597-83150647	A549	lung:	n/a
37	chr12:83150597-83150647	HRPEpiC	eye:	n/a
38	chr12:83178545-83178595	AG04450	lung:	fetal
39	chr12:83176430-83176480	HL-60	blood:	n/a
40	chr12:83150597-83150647	AoSMC	blood vessel:	n/a
41	chr12:83150597-83150647	PFSK-1	brain:	n/a
42	chr12:83150597-83150647	HCM	heart:	n/a
43	chr12:83176430-83176480	IMR90	lung:	fetal
44	chr12:83150597-83150647	SAEC	small airway:	n/a
45	chr12:83176430-83176480	PFSK-1	brain:	n/a
46	chr12:83176430-83176480	Hepatocyte	liver:	n/a
47	chr12:83150597-83150647	Jurkat	blood:	n/a
48	chr12:83178545-83178595	CMK	blood:	n/a
49	chr12:83176430-83176480	SAEC	small airway:	n/a
50	chr12:83176430-83176480	PANC-1	pancreas:	n/a

(count:33 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:83180286..83182818-chr12:83185863..83187878,2	MCF-7	breast:
2	chr12:83193010..83196119-chr12:83198103..83200087,3	MCF-7	breast:
3	chr12:83193010..83196119-chr12:83198103..83200087,3	MCF-7	breast:
4	chr12:83168957..83170901-chr12:83176146..83179018,2	K562	blood:
5	chr12:83079969..83082469-chr12:83197012..83198643,2	MCF-7	breast:
6	chr12:83138681..83143794-chr12:83143962..83149750,5	MCF-7	breast:
7	chr12:83138681..83143794-chr12:83143962..83149750,5	MCF-7	breast:
8	chr12:83168957..83170901-chr12:83176146..83179018,2	K562	blood:
9	chr12:83179690..83182386-chr12:83183697..83186402,3	K562	blood:
10	chr12:83180286..83182818-chr12:83185863..83187878,2	MCF-7	breast:
11	chr12:83079676..83081707-chr12:83150851..83153057,2	MCF-7	breast:
12	chr12:83079098..83081818-chr12:83144882..83148217,3	MCF-7	breast:
13	chr12:83080433..83082853-chr12:83131817..83133597,2	MCF-7	breast:
14	chr12:83179690..83182386-chr12:83184682..83186402,2	K562	blood:
15	chr12:83079933..83081685-chr12:83149199..83150778,2	MCF-7	breast:
16	chr12:83126623..83129163-chr12:83131668..83133523,2	K562	blood:
17	chr12:83133232..83134776-chr12:83139267..83141061,2	MCF-7	breast:
18	chr12:83149723..83152212-chr12:83167569..83170218,2	MCF-7	breast:
19	chr12:83079314..83080074-chr12:83165496..83166214,2	MCF-7	breast:
20	chr12:83140733..83141444-chr9:105581833..105582602,2	MCF-7	breast:
21	chr12:83149723..83152212-chr12:83167569..83170218,2	MCF-7	breast:
22	chr12:83087444..83089633-chr12:83144729..83146613,2	MCF-7	breast:
23	chr12:83078866..83080454-chr12:83132820..83134992,2	MCF-7	breast:
24	chr12:83179690..83182386-chr12:83183697..83186402,3	K562	blood:
25	chr12:83077789..83082139-chr12:83143986..83148057,5	MCF-7	breast:
26	chr12:83147722..83149348-chr12:83154033..83155757,2	K562	blood:
27	chr12:83179690..83182386-chr12:83184682..83186402,2	K562	blood:
28	chr12:83163920..83166046-chr12:83167573..83169394,2	MCF-7	breast:
29	chr12:83161002..83162566-chr12:83300658..83302592,2	MCF-7	breast:
30	chr12:83133232..83134776-chr12:83139267..83141061,2	MCF-7	breast:
31	chr12:83147722..83149348-chr12:83154033..83155757,2	K562	blood:
32	chr12:83163920..83166046-chr12:83167573..83169394,2	MCF-7	breast:
33	chr12:83080290..83082934-chr12:83176093..83178642,2	MCF-7	breast:

No data

Variant related genes	Relation type
TMTC2	TF binding region
TMTC2	CpG island
ENSG00000179104	chromatin interactions

Extended variants
information (count: 2724 )
Associated
traits (count: 67 )

Variant overlapped rSNPs/rCNVs (count:2724 , 50 per page) page: 1 2 3 4 5 6 7 ... 55

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11115373	chr12:83133090-83133091	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs151153404	chr12:83133126-83133127	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs551118705	chr12:83133136-83133137	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs12423439	chr12:83133147-83133148	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs79880098	chr12:83133149-83133150	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs527993051	chr12:83133151-83133152	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs549525985	chr12:83133202-83133203	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs140182536	chr12:83133203-83133204	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs10735458	chr12:83133204-83133205	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs192328968	chr12:83133220-83133221	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs114058282	chr12:83133254-83133255	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs571452647	chr12:83133293-83133294	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs368736213	chr12:83133312-83133313	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs553910946	chr12:83133316-83133317	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs573054960	chr12:83133334-83133335	Enhancers Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs533850471	chr12:83133443-83133444	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs555563174	chr12:83133462-83133463	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs116476079	chr12:83133467-83133468	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs146965323	chr12:83133494-83133495	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs12229521	chr12:83133530-83133531	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs138037233	chr12:83133532-83133533	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs544954987	chr12:83133546-83133547	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs559915413	chr12:83133679-83133680	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs527939088	chr12:83133732-83133733	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs76571259	chr12:83133777-83133778	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs143595724	chr12:83133800-83133801	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs370117649	chr12:83133844-83133845	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs7303918	chr12:83133890-83133891	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs549988560	chr12:83133895-83133896	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs571390381	chr12:83133931-83133932	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs145973137	chr12:83134081-83134082	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs538770018	chr12:83134125-83134126	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs184278598	chr12:83134147-83134148	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs565952327	chr12:83134188-83134189	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs7305216	chr12:83134190-83134191	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs138619186	chr12:83134228-83134229	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs187324623	chr12:83134243-83134244	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs369459894	chr12:83134266-83134267	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs115199994	chr12:83134267-83134268	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs535802605	chr12:83134320-83134321	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs577639583	chr12:83134331-83134332	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs149336672	chr12:83134365-83134366	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs144674723	chr12:83134366-83134367	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs148093967	chr12:83134411-83134412	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs191774565	chr12:83134457-83134458	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs561221773	chr12:83134471-83134472	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs367884314	chr12:83134505-83134506	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs546345695	chr12:83134506-83134507	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs184645663	chr12:83134508-83134509	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs565357573	chr12:83134542-83134543	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:67)

Disease	PMID	Source
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
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
Neurodevelopmental disorder	22521361	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
Breast cancer	17899364	CNVD
Cancer	16751803	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	22032731	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
Malignant peripheral nerve sheath tumor	18522746	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Renal cell carcinoma	18194544	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:949 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:83102400-83138800	Weak transcription	Fetal Kidney	kidney
2	chr12:83102600-83140600	Weak transcription	Pancreas	Pancrea
3	chr12:83102800-83134000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr12:83106800-83133800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr12:83113000-83138600	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr12:83115200-83138200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr12:83115400-83138800	Weak transcription	Brain Anterior Caudate	brain
8	chr12:83115800-83138000	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr12:83119800-83134200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr12:83122000-83138600	Weak transcription	Brain Hippocampus Middle	brain
11	chr12:83122000-83149000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr12:83122800-83140200	Weak transcription	Fetal Muscle Trunk	muscle
13	chr12:83122800-83143600	Weak transcription	Lung	lung
14	chr12:83123000-83134600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr12:83123000-83138000	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr12:83123000-83140400	Weak transcription	Gastric	stomach
17	chr12:83123000-83140600	Weak transcription	Esophagus	oesophagus
18	chr12:83124000-83134400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr12:83124200-83134200	Weak transcription	Fetal Stomach	stomach
20	chr12:83125200-83138800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:83125600-83137600	Weak transcription	Brain Substantia Nigra	brain
22	chr12:83125800-83133600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr12:83128600-83134000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr12:83128600-83134400	Weak transcription	Fetal Muscle Leg	muscle
25	chr12:83128600-83134800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr12:83128600-83137000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:83130000-83133200	Weak transcription	NH-A	brain
28	chr12:83130600-83138400	Weak transcription	Rectal Smooth Muscle	rectum
29	chr12:83131600-83133400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr12:83131800-83133800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr12:83132000-83133200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr12:83132400-83138600	Weak transcription	Colon Smooth Muscle	Colon
33	chr12:83132600-83133600	Weak transcription	NHEK	skin
34	chr12:83132800-83135000	Strong transcription	Fetal Lung	lung
35	chr12:83133000-83133400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr12:83133000-83136800	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr12:83133000-83137000	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr12:83133200-83133400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr12:83133200-83134200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr12:83133200-83134800	Enhancers	NH-A	brain
41	chr12:83133400-83133600	Enhancers	A549	lung
42	chr12:83133400-83134000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr12:83133400-83134400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr12:83133400-83134800	Enhancers	HSMMtube	muscle
45	chr12:83133400-83135000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr12:83133600-83134800	Flanking Active TSS	A549	lung
47	chr12:83133600-83135000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr12:83133600-83135000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr12:83133600-83135000	Enhancers	NHEK	skin
50	chr12:83133800-83134800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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