Variant report

Variant	esv3392935
Chromosome Location	chr6:119668878-119671426
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:739)
CpG islands
(count:671)
Chromatin interactive
region (count:16)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:739 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr6:119668177-119669765	HepG2	liver:	n/a	n/a
2	ARID3A	chr6:119670406-119670612	K562	blood:	n/a	n/a
3	ARID3A	chr6:119670438-119671236	HepG2	liver:	n/a	n/a
4	ATF2	chr6:119669008-119669549	GM12878	blood:	n/a	n/a
5	ATF2	chr6:119671419-119672459	GM12878	blood:	n/a	n/a
6	ATF2	chr6:119669000-119669435	GM12878	blood:	n/a	n/a
7	ATF2	chr6:119670627-119671043	GM12878	blood:	n/a	n/a
8	ATF2	chr6:119671405-119672000	GM12878	blood:	n/a	n/a
9	ATF3	chr6:119668529-119669160	K562	blood:	n/a	n/a
10	BACH1	chr6:119670532-119670933	K562	blood:	n/a	n/a
11	BACH1	chr6:119670037-119670044	H1-hESC	embryonic stem cell:	n/a	n/a
12	BACH1	chr6:119670545-119671258	H1-hESC	embryonic stem cell:	n/a	n/a
13	BACH1	chr6:119668585-119669010	K562	blood:	n/a	chr6:119668768-119668782
14	BCLAF1	chr6:119670594-119671308	GM12878	blood:	n/a	chr6:119670825-119670838 chr6:119670905-119670914 chr6:119670906-119670919 chr6:119670859-119670872 chr6:119670987-119671000
15	BCLAF1	chr6:119671404-119671922	GM12878	blood:	n/a	chr6:119671460-119671469
16	BCLAF1	chr6:119670426-119672073	GM12878	blood:	n/a	chr6:119670825-119670838 chr6:119670905-119670914 chr6:119671460-119671469 chr6:119670444-119670457 chr6:119670906-119670919 chr6:119670859-119670872 chr6:119670987-119671000
17	BHLHE40	chr6:119671422-119671438	K562	blood:	n/a	n/a
18	BHLHE40	chr6:119670357-119672411	GM12878	blood:	n/a	n/a
19	BHLHE40	chr6:119668394-119668895	GM12878	blood:	n/a	n/a
20	BHLHE40	chr6:119668594-119669894	HepG2	liver:	n/a	n/a
21	BHLHE40	chr6:119669183-119669560	GM12878	blood:	n/a	n/a
22	BHLHE40	chr6:119670269-119671213	K562	blood:	n/a	chr6:119670283-119670299
23	BRCA1	chr6:119670686-119671468	GM12878	blood:	n/a	n/a
24	BRCA1	chr6:119669288-119669473	GM12878	blood:	n/a	n/a
25	BRCA1	chr6:119670700-119670963	HepG2	liver:	n/a	n/a
26	CBX3	chr6:119670242-119671087	K562	blood:	n/a	n/a
27	CCNT2	chr6:119668430-119671911	K562	blood:	n/a	chr6:119671217-119671226 chr6:119670638-119670647 chr6:119671027-119671036
28	CEBPB	chr6:119668592-119669144	K562	blood:	n/a	chr6:119669001-119669012
29	CEBPB	chr6:119668823-119669188	K562	blood:	n/a	chr6:119669001-119669012
30	CEBPB	chr6:119668658-119669412	HepG2	liver:	n/a	chr6:119669001-119669012
31	CEBPB	chr6:119668788-119669222	MCF-7	breast:	n/a	chr6:119669001-119669012
32	CEBPB	chr6:119671369-119672182	GM12878	blood:	n/a	n/a
33	CEBPB	chr6:119668796-119669126	HepG2	liver:	n/a	chr6:119669001-119669012
34	CEBPB	chr6:119668690-119669783	HepG2	liver:	n/a	chr6:119669001-119669012
35	CEBPB	chr6:119670710-119670927	HepG2	liver:	n/a	n/a
36	CEBPB	chr6:119668212-119669680	HepG2	liver:	n/a	chr6:119669001-119669012
37	CEBPD	chr6:119669447-119670091	HepG2	liver:	n/a	n/a
38	CEBPD	chr6:119669121-119669397	HepG2	liver:	n/a	n/a
39	CEBPD	chr6:119670430-119671323	HepG2	liver:	n/a	n/a
40	CEBPD	chr6:119670351-119671173	K562	blood:	n/a	n/a
41	CEBPD	chr6:119669529-119669895	HepG2	liver:	n/a	n/a
42	CEBPD	chr6:119670735-119671025	HepG2	liver:	n/a	n/a
43	CEBPD	chr6:119668769-119669144	HepG2	liver:	n/a	n/a
44	CEBPD	chr6:119668598-119669094	HepG2	liver:	n/a	n/a
45	CHD1	chr6:119668589-119669997	GM12878	blood:	n/a	n/a
46	CHD1	chr6:119671134-119671267	H1-hESC	embryonic stem cell:	n/a	chr6:119671143-119671153
47	CHD1	chr6:119670735-119672402	GM12878	blood:	n/a	chr6:119671060-119671070 chr6:119671143-119671153
48	CHD2	chr6:119670866-119671242	H1-hESC	embryonic stem cell:	n/a	chr6:119671060-119671070 chr6:119671143-119671153
49	CHD2	chr6:119670023-119670303	GM12878	blood:	n/a	n/a
50	CHD2	chr6:119670540-119671284	K562	blood:	n/a	chr6:119671060-119671070 chr6:119671143-119671153

(count:671 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:119670533-119670583	HMEC	breast:	n/a
2	chr6:119671238-119671288	HRE	kidney:	n/a
3	chr6:119669112-119669162	U87	brain:	n/a
4	chr6:119671423-119671473	Hepatocyte	liver:	n/a
5	chr6:119669372-119669422	HL-60	blood:	n/a
6	chr6:119670533-119670583	HEK293	kidney:	embryo
7	chr6:119671238-119671288	PrEC	prostate:	n/a
8	chr6:119669372-119669422	HCPEpiC	choroid plexus:	n/a
9	chr6:119671238-119671288	GM06990	blood:	n/a
10	chr6:119669801-119669851	HEK293	kidney:	embryo
11	chr6:119671176-119671226	HepG2	liver:	n/a
12	chr6:119671238-119671288	IMR90	lung:	fetal
13	chr6:119671423-119671473	U87	brain:	n/a
14	chr6:119671260-119671310	HepG2	liver:	n/a
15	chr6:119671423-119671473	HL-60	blood:	n/a
16	chr6:119671176-119671226	HCM	heart:	n/a
17	chr6:119669112-119669162	PANC-1	pancreas:	n/a
18	chr6:119671260-119671310	BJ	skin:	n/a
19	chr6:119669305-119669355	GM06990	blood:	n/a
20	chr6:119670882-119670932	SK-N-SH_RA	brain:	n/a
21	chr6:119669112-119669162	AG04449	skin:	fetal
22	chr6:119671423-119671473	SAEC	small airway:	n/a
23	chr6:119669372-119669422	GM19239	blood:	n/a
24	chr6:119671176-119671226	RPTEC	kidney:	n/a
25	chr6:119670533-119670583	Hepatocyte	liver:	n/a
26	chr6:119669801-119669851	A549	lung:	n/a
27	chr6:119671260-119671310	NHBE	bronchial:	n/a
28	chr6:119669372-119669422	K562	blood:	n/a
29	chr6:119671423-119671473	A549	lung:	n/a
30	chr6:119671238-119671288	SK-N-MC	brain:	n/a
31	chr6:119671238-119671288	SAEC	small airway:	n/a
32	chr6:119669305-119669355	HepG2	liver:	n/a
33	chr6:119669112-119669162	SKMC	muscle:	n/a
34	chr6:119671260-119671310	T-47D	breast:	n/a
35	chr6:119669801-119669851	AoSMC	blood vessel:	n/a
36	chr6:119671238-119671288	NHBE	bronchial:	n/a
37	chr6:119671238-119671288	HepG2	liver:	n/a
38	chr6:119671423-119671473	SK-N-MC	brain:	n/a
39	chr6:119671176-119671226	BJ	skin:	n/a
40	chr6:119669305-119669355	SK-N-SH	brain:	n/a
41	chr6:119669372-119669422	HRPEpiC	eye:	n/a
42	chr6:119669801-119669851	HCM	heart:	n/a
43	chr6:119669801-119669851	BE2_C	brain:	n/a
44	chr6:119669801-119669851	NB4	blood:	n/a
45	chr6:119669305-119669355	PFSK-1	brain:	n/a
46	chr6:119669801-119669851	NH-A	brain:	n/a
47	chr6:119671423-119671473	AoSMC	blood vessel:	n/a
48	chr6:119669372-119669422	IMR90	lung:	fetal
49	chr6:119670882-119670932	GM06990	blood:	n/a
50	chr6:119669801-119669851	AG09309	skin:	n/a

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:119646815..119653075-chr6:119668578..119671016,6	K562	blood:
2	chr6:119671114..119673053-chr6:119674972..119676830,3	K562	blood:
3	chr6:119646382..119648660-chr6:119668105..119670795,4	K562	blood:
4	chr6:119658599..119660724-chr6:119666324..119670101,4	K562	blood:
5	chr6:119668823..119671516-chr8:145162966..145165568,2	MCF-7	breast:
6	chr6:119669555..119672250-chr9:133998872..134001645,2	MCF-7	breast:
7	chr6:119668779..119670859-chr6:120052634..120055044,2	MCF-7	breast:
8	chr6:119467858..119470789-chr6:119668770..119672252,3	K562	blood:
9	chr6:119606943..119609052-chr6:119667352..119668942,2	K562	blood:
10	chr6:119398174..119401168-chr6:119668507..119671059,2	K562	blood:
11	chr1:11779444..11779992-chr6:119671388..119671888,2	NB4	blood:
12	chr17:80250403..80251168-chr6:119670864..119671464,2	HCT-116	colon:
13	chr6:119460572..119463135-chr6:119668179..119670876,2	K562	blood:
14	chr2:86421834..86422681-chr6:119670403..119671308,2	HCT-116	colon:
15	chr6:119671114..119672646-chr6:119674979..119676830,2	K562	blood:
16	chr6:119666964..119669354-chr6:119827597..119829582,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ASF1A-2	chr6:119671097-119671139	NONHSAT114713
2	lnc-ASF1A-2	chr6:119671082-119671139	XLOC_005448
3	lnc-ASF1A-6	chr6:119671256-119673798	NONHSAT114714

No data

Variant related genes	Relation type
MAN1A1	TF binding region
MAN1A1	CpG island
ENSG00000126883	chromatin interactions
ENSG00000111879	chromatin interactions
ENSG00000179698	chromatin interactions
ENSG00000132305	chromatin interactions
ENSG00000265692	chromatin interactions
ENSG00000200732	chromatin interactions
ENSG00000179526	chromatin interactions
E2F3	miRNA target sites

Extended variants
information (count: 101 )
Associated
traits (count: 113 )

Variant overlapped rSNPs/rCNVs (count:101 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs562644975	chr6:119668935-119668936	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs34274471	chr6:119668949-119668950	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs547324351	chr6:119668950-119668951	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs575945453	chr6:119668966-119668967	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs75773492	chr6:119668970-119668971	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs564996925	chr6:119668976-119668977	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs527605188	chr6:119669003-119669004	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs547741766	chr6:119669026-119669027	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs561047461	chr6:119669055-119669056	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs529952674	chr6:119669118-119669119	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs149326245	chr6:119669213-119669214	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs565823046	chr6:119669298-119669299	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs369587467	chr6:119669312-119669313	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs570136309	chr6:119669323-119669324	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs538613488	chr6:119669366-119669367	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs193071086	chr6:119669367-119669368	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs143420393	chr6:119669395-119669396	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs114468272	chr6:119669439-119669440	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs183726712	chr6:119669460-119669461	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs574682939	chr6:119669467-119669468	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs137905439	chr6:119669490-119669491	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs555939522	chr6:119669491-119669492	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs576098690	chr6:119669501-119669502	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs143461048	chr6:119669519-119669520	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs564874772	chr6:119669534-119669535	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs572104929	chr6:119669542-119669543	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs541324065	chr6:119669545-119669546	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs188152078	chr6:119669548-119669549	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs373202242	chr6:119669556-119669557	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs529865729	chr6:119669591-119669592	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs201606937	chr6:119669605-119669606	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs147162446	chr6:119669641-119669642	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs377001439	chr6:119669654-119669655	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs143029484	chr6:119669683-119669684	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs146157763	chr6:119669693-119669694	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs148806304	chr6:119669706-119669707	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs552420715	chr6:119669713-119669714	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs369850457	chr6:119669723-119669724	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs200812405	chr6:119669741-119669742	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs373209991	chr6:119669769-119669770	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs548432519	chr6:119669773-119669774	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs562573495	chr6:119669799-119669800	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs376141318	chr6:119669801-119669802	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs141402861	chr6:119669826-119669827	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs370273743	chr6:119669827-119669828	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs183842104	chr6:119669839-119669840	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs3734385	chr6:119669877-119669878	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs200860304	chr6:119669889-119669890	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
49	rs370650175	chr6:119669898-119669899	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
50	rs537208761	chr6:119669956-119669957	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:113)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Gastric cancer	17908304	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
Acute lymphoblastic leukemia	22237106	CNVD
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
T-cell lymphomas	19863542	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	19242612	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Mental retardation	17621639	CNVD
Hypoplastic	20877625	CNVD
Hypotonia	20877625	CNVD
Mental retardation	20877625	CNVD
Microcephaly	20877625	CNVD
brachycephaly	20877625	CNVD
epicanthic folds	20877625	CNVD
micrognathia	20877625	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Metastatic melanoma	18483359	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	18698023	CNVD
Mental retardation	18854857	CNVD
Leukemia	18688285	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Liver carcinoma	19366792	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:312 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119662200-119669200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:119664800-119672400	Active TSS	Brain Anterior Caudate	brain
3	chr6:119665000-119669200	Weak transcription	Spleen	Spleen
4	chr6:119665200-119672800	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr6:119666200-119672600	Active TSS	NHDF-Ad	bronchial
6	chr6:119666600-119672400	Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr6:119666800-119669000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr6:119666800-119669000	Flanking Active TSS	GM12878-XiMat	blood
9	chr6:119667000-119669400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr6:119667000-119672400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr6:119667000-119672400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr6:119667000-119672800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr6:119667200-119669200	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr6:119667200-119672200	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr6:119667200-119672400	Active TSS	Right Atrium	heart
16	chr6:119667400-119669000	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr6:119667400-119670400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr6:119667400-119670400	Active TSS	Placenta	Placenta
19	chr6:119667400-119670600	Flanking Active TSS	Primary B cells from cord blood	blood
20	chr6:119667600-119669200	Active TSS	Brain Cingulate Gyrus	brain
21	chr6:119667600-119669200	Enhancers	HUVEC	blood vessel
22	chr6:119667600-119669400	Active TSS	Colonic Mucosa	Colon
23	chr6:119667600-119669600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
24	chr6:119667600-119669600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
25	chr6:119667600-119669800	Flanking Active TSS	NHEK	skin
26	chr6:119667600-119670000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr6:119667600-119670200	Active TSS	Fetal Brain Male	brain
28	chr6:119667600-119670400	Active TSS	Brain Hippocampus Middle	brain
29	chr6:119667600-119672000	Active TSS	Lung	lung
30	chr6:119667600-119672000	Active TSS	Pancreas	Pancrea
31	chr6:119667600-119672200	Active TSS	Brain Angular Gyrus	brain
32	chr6:119667600-119672200	Active TSS	Left Ventricle	heart
33	chr6:119667600-119672200	Active TSS	Rectal Smooth Muscle	rectum
34	chr6:119667800-119669600	Bivalent/Poised TSS	HepG2	liver
35	chr6:119667800-119670000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
36	chr6:119667800-119672200	Active TSS	Right Ventricle	heart
37	chr6:119668000-119669000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
38	chr6:119668000-119669000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr6:119668000-119669000	Flanking Active TSS	Osteobl	bone
40	chr6:119668000-119669200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr6:119668000-119669200	Active TSS	Esophagus	oesophagus
42	chr6:119668000-119669200	Active TSS	Fetal Brain Female	brain
43	chr6:119668000-119669200	Flanking Active TSS	Fetal Muscle Leg	muscle
44	chr6:119668000-119669600	Flanking Active TSS	Primary B cells from peripheral blood	blood
45	chr6:119668000-119669600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
46	chr6:119668000-119669800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
47	chr6:119668000-119669800	Flanking Active TSS	Primary hematopoietic stem cells	blood
48	chr6:119668000-119671600	Active TSS	Liver	Liver
49	chr6:119668000-119672000	Active TSS	Gastric	stomach
50	chr6:119668000-119672200	Active TSS	Psoas Muscle	Psoas

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links