Variant report

Variant	esv3357464
Chromosome Location	chr12:1099316-1101864
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:585)
CpG islands
(count:733)
Chromatin interactive
region (count:22)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:585 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:1099568-1100086	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:1099010-1099326	HepG2	liver:	n/a	n/a
3	ATF2	chr12:1099825-1100243	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF3	chr12:1099771-1100325	A549	lung:	n/a	n/a
5	ATF3	chr12:1099861-1100346	A549	lung:	n/a	n/a
6	BACH1	chr12:1100079-1100260	K562	blood:	n/a	n/a
7	BACH1	chr12:1099655-1100263	H1-hESC	embryonic stem cell:	n/a	n/a
8	BACH1	chr12:1100584-1100760	H1-hESC	embryonic stem cell:	n/a	n/a
9	BCL3	chr12:1099507-1100374	A549	lung:	n/a	chr12:1099902-1099915 chr12:1099641-1099649
10	BCL3	chr12:1099362-1100200	A549	lung:	n/a	chr12:1099902-1099915 chr12:1099641-1099649
11	BHLHE40	chr12:1099463-1100555	GM12878	blood:	n/a	n/a
12	BHLHE40	chr12:1099463-1100651	HepG2	liver:	n/a	n/a
13	BHLHE40	chr12:1099502-1100360	K562	blood:	n/a	n/a
14	BRCA1	chr12:1100483-1100679	H1-hESC	embryonic stem cell:	n/a	n/a
15	BRCA1	chr12:1099918-1100248	HepG2	liver:	n/a	n/a
16	BRCA1	chr12:1099854-1100555	Hela-S3	cervix:	n/a	n/a
17	BRCA1	chr12:1098735-1099563	Hela-S3	cervix:	n/a	n/a
18	CBX3	chr12:1099408-1100104	K562	blood:	n/a	n/a
19	CCNT2	chr12:1099598-1100750	K562	blood:	n/a	chr12:1099952-1099961 chr12:1100669-1100678 chr12:1100693-1100702
20	CEBPB	chr12:1098999-1100341	Hela-S3	cervix:	n/a	n/a
21	CEBPB	chr12:1101784-1101984	IMR90	lung:	n/a	n/a
22	CEBPB	chr12:1100911-1101211	Hela-S3	cervix:	n/a	n/a
23	CEBPB	chr12:1099894-1100077	H1-hESC	embryonic stem cell:	n/a	n/a
24	CEBPD	chr12:1099766-1100782	HepG2	liver:	n/a	n/a
25	CHD1	chr12:1098198-1102295	IMR90	lung:	n/a	chr12:1100770-1100780 chr12:1100805-1100815
26	CHD1	chr12:1099785-1099892	H1-hESC	embryonic stem cell:	n/a	n/a
27	CHD1	chr12:1099769-1100297	GM12878	blood:	n/a	n/a
28	CHD1	chr12:1101194-1101477	H1-hESC	embryonic stem cell:	n/a	n/a
29	CHD2	chr12:1099742-1100171	H1-hESC	embryonic stem cell:	n/a	n/a
30	CHD2	chr12:1099661-1100195	K562	blood:	n/a	n/a
31	CHD2	chr12:1099634-1100833	HepG2	liver:	n/a	chr12:1100770-1100780 chr12:1100805-1100815
32	CHD2	chr12:1099037-1101094	Hela-S3	cervix:	n/a	chr12:1100770-1100780 chr12:1100805-1100815
33	CHD2	chr12:1100537-1100653	H1-hESC	embryonic stem cell:	n/a	n/a
34	CHD2	chr12:1099568-1100680	GM12878	blood:	n/a	n/a
35	CHD2	chr12:1100982-1101090	H1-hESC	embryonic stem cell:	n/a	n/a
36	CHD2	chr12:1100490-1100626	K562	blood:	n/a	n/a
37	CHD2	chr12:1099226-1099421	K562	blood:	n/a	n/a
38	CREB1	chr12:1099697-1100630	H1-hESC	embryonic stem cell:	n/a	n/a
39	CREB1	chr12:1099965-1100550	ECC-1	luminal epithelium:	n/a	n/a
40	CREB1	chr12:1099483-1100867	A549	lung:	n/a	n/a
41	CREB1	chr12:1099985-1100561	K562	blood:	n/a	n/a
42	CREB1	chr12:1099428-1101150	HepG2	liver:	n/a	n/a
43	CREB1	chr12:1099558-1100748	H1-hESC	embryonic stem cell:	n/a	n/a
44	CREB1	chr12:1099720-1100828	HepG2	liver:	n/a	n/a
45	CREB1	chr12:1099887-1100441	A549	lung:	n/a	n/a
46	CTBP2	chr12:1099590-1100287	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chr12:1099980-1100130	BE2_C	brain:	n/a	n/a
48	CTCF	chr12:1100090-1100152	GM19239	blood:	n/a	n/a
49	CTCF	chr12:1100000-1100150	GM12873	blood:	n/a	n/a
50	CTCF	chr12:1099961-1100171	Fibrobl	skin:	n/a	n/a

(count:733 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:1099985-1100035	HEEpiC	esophagus:	n/a
2	chr12:1099985-1100035	HEEpiC	esophagus:	n/a
3	chr12:1100385-1100435	HUVEC	blood vessel:	n/a
4	chr12:1100388-1100438	U87	brain:	n/a
5	chr12:1100385-1100435	Hepatocyte	liver:	n/a
6	chr12:1099985-1100035	GM06990	blood:	n/a
7	chr12:1100472-1100522	HAEpiC	amniotic membrane:	n/a
8	chr12:1099985-1100035	ProgFib	skin:	n/a
9	chr12:1100385-1100435	AG04450	lung:	fetal
10	chr12:1099823-1099873	H1-hESC	embryonic stem cell:	embryo
11	chr12:1100495-1100545	T-47D	breast:	n/a
12	chr12:1101044-1101094	AG04450	lung:	fetal
13	chr12:1100379-1100429	NB4	blood:	n/a
14	chr12:1101044-1101094	HRE	kidney:	n/a
15	chr12:1100495-1100545	Hepatocyte	liver:	n/a
16	chr12:1100009-1100059	GM19239	blood:	n/a
17	chr12:1100377-1100427	ovcar-3	ovarian:	n/a
18	chr12:1100472-1100522	NH-A	brain:	n/a
19	chr12:1100598-1100648	HRE	kidney:	n/a
20	chr12:1099985-1100035	HUVEC	blood vessel:	n/a
21	chr12:1100495-1100545	GM12891	blood:	n/a
22	chr12:1099998-1100048	HEEpiC	esophagus:	n/a
23	chr12:1100379-1100429	AG04450	lung:	fetal
24	chr12:1099985-1100035	RPTEC	kidney:	n/a
25	chr12:1099998-1100048	GM19239	blood:	n/a
26	chr12:1100009-1100059	SAEC	small airway:	n/a
27	chr12:1100009-1100059	HRPEpiC	eye:	n/a
28	chr12:1100379-1100429	AG09319	gingival:	n/a
29	chr12:1099823-1099873	NHBE	bronchial:	n/a
30	chr12:1099823-1099873	HCT-116	colon:	n/a
31	chr12:1100598-1100648	PANC-1	pancreas:	n/a
32	chr12:1099985-1100035	AG10803	skin:	n/a
33	chr12:1101044-1101094	HUVEC	blood vessel:	n/a
34	chr12:1100388-1100438	HEK293	kidney:	embryo
35	chr12:1100388-1100438	AG04449	skin:	fetal
36	chr12:1099823-1099873	SKMC	muscle:	n/a
37	chr12:1100495-1100545	HCT-116	colon:	n/a
38	chr12:1099823-1099873	AG09309	skin:	n/a
39	chr12:1100388-1100438	AG09309	skin:	n/a
40	chr12:1100495-1100545	AG09309	skin:	n/a
41	chr12:1100385-1100435	PFSK-1	brain:	n/a
42	chr12:1099998-1100048	H1-hESC	embryonic stem cell:	embryo
43	chr12:1100385-1100435	HEK293	kidney:	embryo
44	chr12:1101044-1101094	AG10803	skin:	n/a
45	chr12:1100495-1100545	SK-N-MC	brain:	n/a
46	chr12:1099998-1100048	HRE	kidney:	n/a
47	chr12:1100495-1100545	MCF10A-Er-Src	breast:	n/a
48	chr12:1099823-1099873	HPAEpiC	pulmonary alveolar:	n/a
49	chr12:1099998-1100048	AG04449	skin:	fetal
50	chr12:1100385-1100435	SK-N-SH_RA	brain:	n/a

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:1100048..1100689-chr2:47168066..47168566,2	HCT-116	colon:
2	chr1:46152739..46153727-chr12:1100153..1101024,2	NB4	blood:
3	chr12:1100504..1101231-chr17:26368491..26369260,2	Hela-S3	cervix:
4	chr12:1058754..1060950-chr12:1097741..1100141,2	MCF-7	breast:
5	chr10:91460746..91461718-chr12:1100060..1100607,2	HCT-116	colon:
6	chr12:1100265..1100782-chr2:47168046..47168566,2	MCF-7	breast:
7	chr1:149859365..149860018-chr12:1100150..1100668,2	Hela-S3	cervix:
8	chr1:28974934..28975528-chr12:1100894..1101513,2	Hela-S3	cervix:
9	chr12:1099319..1102192-chr19:46282612..46285259,2	MCF-7	breast:
10	chr12:1057369..1058961-chr12:1099742..1102215,2	K562	blood:
11	chr12:1056985..1060702-chr12:1098122..1101434,9	MCF-7	breast:
12	chr12:1099424..1099985-chr15:78857604..78858376,2	Hela-S3	cervix:
13	chr12:1100037..1100656-chr12:51442773..51443406,2	Hela-S3	cervix:
14	chr1:200638978..200639820-chr12:1099606..1100160,2	Hela-S3	cervix:
15	chr1:23885419..23886416-chr12:1099306..1100258,2	Hela-S3	cervix:
16	chr12:1100058..1100987-chr16:89119009..89119720,2	Hela-S3	cervix:
17	chr12:1099568..1100284-chr22:38597718..38598499,2	Hela-S3	cervix:
18	chr12:1097166..1102781-chr12:1103327..1109862,10	MCF-7	breast:
19	chr10:92617261..92617781-chr12:1100112..1100745,2	HCT-116	colon:
20	chr12:541135..544043-chr12:1097640..1100614,2	K562	blood:
21	chr12:1098483..1100095-chr12:1136049..1138258,2	K562	blood:
22	chr12:1099879..1100771-chr5:137673557..137674488,2	Hela-S3	cervix:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NINJ2-2	chr12:1100217-1100356	ENSG00000250132.2
2	lnc-NINJ2-2	chr12:1099453-1099774	ENSG00000250132.2
3	lnc-NINJ2-2	chr12:1099221-1100283	NONHSAT025381
4	lnc-NINJ2-2	chr12:1100217-1100288	ENSG00000250132.2

No data

Variant related genes	Relation type
ENSG00000250132	TF binding region
ERC1	TF binding region
RAD52	TF binding region
ENSG00000250132	CpG island
ERC1	CpG island
RAD52	CpG island
ENSG00000118197	chromatin interactions
ENSG00000185022	chromatin interactions
ENSG00000158402	chromatin interactions
ENSG00000117318	chromatin interactions
ENSG00000159592	chromatin interactions
ENSG00000256982	chromatin interactions
ENSG00000120647	chromatin interactions
ENSG00000087095	chromatin interactions
ENSG00000068724	chromatin interactions
ENSG00000159596	chromatin interactions
ENSG00000050426	chromatin interactions
ENSG00000104936	chromatin interactions
ENSG00000082805	chromatin interactions
ENSG00000270103	chromatin interactions
ENSG00000169684	chromatin interactions
ENSG00000148680	chromatin interactions
ENSG00000002016	chromatin interactions
ENSG00000184270	chromatin interactions
ENSG00000178096	chromatin interactions
ENSG00000120709	chromatin interactions
ENSG00000138182	chromatin interactions

Extended variants
information (count: 112 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:112 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs182473380	chr12:1099354-1099355	Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
2	rs187043712	chr12:1099392-1099393	Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	Overlapped CNVs	n/a
3	rs372827777	chr12:1099439-1099440	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
4	rs372908169	chr12:1099459-1099460	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
5	rs559207425	chr12:1099466-1099467	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
6	rs562527494	chr12:1099476-1099477	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
7	rs115729762	chr12:1099490-1099491	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
8	rs115631591	chr12:1099497-1099498	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
9	rs571003380	chr12:1099500-1099501	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
10	rs34154699	chr12:1099521-1099522	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
11	rs552215238	chr12:1099526-1099527	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
12	rs562495613	chr12:1099531-1099532	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
13	rs190630068	chr12:1099533-1099534	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
14	rs182803284	chr12:1099535-1099536	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
15	rs568366591	chr12:1099557-1099558	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
16	rs535802410	chr12:1099559-1099560	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	9 gene(s)	Overlapped CNVs	n/a
17	rs549994802	chr12:1099634-1099635	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
18	rs550554767	chr12:1099645-1099646	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
19	rs569057947	chr12:1099647-1099648	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
20	rs539527642	chr12:1099660-1099661	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
21	rs577428437	chr12:1099664-1099665	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
22	rs544611734	chr12:1099668-1099669	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
23	rs535706284	chr12:1099689-1099690	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
24	rs572955802	chr12:1099692-1099693	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
25	rs565705117	chr12:1099695-1099696	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
26	rs533863401	chr12:1099712-1099713	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
27	rs187177628	chr12:1099722-1099723	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
28	rs573563630	chr12:1099749-1099750	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
29	rs544264147	chr12:1099764-1099765	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
30	rs562464025	chr12:1099778-1099779	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
31	rs147631619	chr12:1099824-1099825	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	Overlapped CNVs	n/a
32	rs545091668	chr12:1099898-1099899	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
33	rs564546665	chr12:1099921-1099922	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
34	rs528639796	chr12:1099943-1099944	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
35	rs78547938	chr12:1099944-1099945	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
36	rs79824915	chr12:1099949-1099950	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
37	rs550591872	chr12:1099953-1099954	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
38	rs568898662	chr12:1099957-1099958	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
39	rs539559509	chr12:1099971-1099972	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
40	rs367711587	chr12:1099984-1099985	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	13 gene(s)	Overlapped CNVs	n/a
41	rs551430413	chr12:1099989-1099990	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
42	rs566550293	chr12:1099996-1099997	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
43	rs190060815	chr12:1100014-1100015	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	Overlapped CNVs	n/a
44	rs555262194	chr12:1100063-1100064	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	16 gene(s)	Overlapped CNVs	n/a
45	rs148536385	chr12:1100116-1100117	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
46	rs138094397	chr12:1100118-1100119	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
47	rs3077821	chr12:1100133-1100134	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	17 gene(s)	Overlapped CNVs	n/a
48	rs573923602	chr12:1100177-1100178	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	20 gene(s)	Overlapped CNVs	n/a
49	rs150127605	chr12:1100259-1100260	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	19 gene(s)	Overlapped CNVs	n/a
50	rs138466662	chr12:1100291-1100292	Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	18 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Glaucoma	21310917	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Malignant peripheral nerve sheath tumor	19844265	CNVD
Squamous cell cancer	19607727	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Mental retardation	17847001	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
abnormal development	18461090	CNVD
Ovarian cancer	20844748	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Medulloblastoma	16968546	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Breast cancer	22032731	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	21965145	CNVD
Acute myeloid leukemia	16864856	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Disorders of sex development	21048976	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Prostate cancer	19156837	CNVD
Emphysema	19352772	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Malignant germ cell tumour	17285132	CNVD
Melanoma	18172304	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Wilms tumour	21544195	CNVD
Squamous cell cancer	21044232	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Endometrial cancer	22040021	CNVD
Colorectal cancer	20709793	CNVD
Breast cancer	21264507	CNVD
Cancer	16751803	CNVD
Testicular cancer	18059402	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Seminomas	18059402	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
Testicular germ cell tumor	18059402	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21509527	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21785460	CNVD
Ovarian cancer	21720365	CNVD
Myelodysplastic syndrome	21251322	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Cancer	17440070	CNVD
Autism	22495311	CNVD
Pancreatic cancer	17952125	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:434 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1073200-1099600	Weak transcription	Gastric	stomach
2	chr12:1081600-1099600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:1097200-1099400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:1097400-1099400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr12:1097600-1099400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr12:1097600-1099400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr12:1097600-1099800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr12:1097600-1099800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr12:1097800-1099400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr12:1097800-1099400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr12:1097800-1099400	Flanking Active TSS	Brain Anterior Caudate	brain
12	chr12:1097800-1099400	Flanking Active TSS	Hela-S3	cervix
13	chr12:1097800-1099800	Flanking Active TSS	Dnd41	blood
14	chr12:1097800-1100000	Active TSS	Right Atrium	heart
15	chr12:1098000-1099400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
16	chr12:1098000-1099400	Flanking Active TSS	Fetal Heart	heart
17	chr12:1098000-1099400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
18	chr12:1098000-1099600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr12:1098000-1099800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr12:1098000-1099800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
21	chr12:1098000-1100000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
22	chr12:1098200-1099400	Flanking Active TSS	Rectal Smooth Muscle	rectum
23	chr12:1098200-1099400	Flanking Active TSS	A549	lung
24	chr12:1098400-1100000	Flanking Active TSS	Osteobl	bone
25	chr12:1098600-1099400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr12:1098600-1099600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr12:1098600-1099600	Flanking Active TSS	NHEK	skin
28	chr12:1098600-1100200	Flanking Active TSS	HMEC	breast
29	chr12:1098600-1101200	Active TSS	Psoas Muscle	Psoas
30	chr12:1098600-1101600	Active TSS	Aorta	Aorta
31	chr12:1098600-1101800	Active TSS	Fetal Brain Male	brain
32	chr12:1098800-1099400	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
33	chr12:1098800-1099400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr12:1098800-1099400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
35	chr12:1098800-1099400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr12:1098800-1099400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
37	chr12:1098800-1099400	Flanking Active TSS	Adipose Nuclei	Adipose
38	chr12:1098800-1099400	Flanking Active TSS	Liver	Liver
39	chr12:1098800-1099400	Flanking Active TSS	Brain Substantia Nigra	brain
40	chr12:1098800-1099400	Flanking Active TSS	Duodenum Mucosa	Duodenum
41	chr12:1098800-1099400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
42	chr12:1098800-1099400	Flanking Active TSS	Fetal Lung	lung
43	chr12:1098800-1099400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
44	chr12:1098800-1099400	Flanking Active TSS	HSMM	muscle
45	chr12:1098800-1099400	Flanking Active TSS	HSMMtube	muscle
46	chr12:1098800-1099600	Flanking Active TSS	Primary T cells from cord blood	blood
47	chr12:1098800-1099600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr12:1098800-1099600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr12:1098800-1099600	Flanking Active TSS	HUVEC	blood vessel
50	chr12:1098800-1099800	Flanking Active TSS	NH-A	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links