Variant report

Variant	esv11944
Chromosome Location	chr6:32145042-32148107
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:590)
CpG islands
(count:2810)
Chromatin interactive
region (count:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 2)
miRNA target
sites (count:0)

(count:590 , 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	chr6:32144901-32146811	HepG2	liver:	n/a	n/a
2	ARID3A	chr6:32144728-32146323	K562	blood:	n/a	n/a
3	ATF1	chr6:32145320-32146791	K562	blood:	n/a	n/a
4	ATF2	chr6:32144789-32146215	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr6:32145759-32146315	GM12878	blood:	n/a	n/a
6	ATF2	chr6:32145207-32146069	H1-hESC	embryonic stem cell:	n/a	n/a
7	ATF2	chr6:32145040-32146482	GM12878	blood:	n/a	n/a
8	ATF3	chr6:32146519-32146755	K562	blood:	n/a	n/a
9	BACH1	chr6:32146210-32146340	H1-hESC	embryonic stem cell:	n/a	n/a
10	BCLAF1	chr6:32145138-32145984	GM12878	blood:	n/a	n/a
11	BHLHE40	chr6:32144831-32147233	K562	blood:	n/a	chr6:32146640-32146649 chr6:32146640-32146649 chr6:32146634-32146655 chr6:32146639-32146648
12	BHLHE40	chr6:32144728-32146872	HepG2	liver:	n/a	chr6:32146640-32146649 chr6:32146640-32146649 chr6:32146634-32146655 chr6:32146639-32146648
13	BHLHE40	chr6:32145483-32146830	GM12878	blood:	n/a	chr6:32146640-32146649 chr6:32146640-32146649 chr6:32146634-32146655 chr6:32146639-32146648
14	BRCA1	chr6:32145169-32146167	HepG2	liver:	n/a	n/a
15	BRCA1	chr6:32144605-32146322	Hela-S3	cervix:	n/a	n/a
16	BRCA1	chr6:32145239-32145349	GM12878	blood:	n/a	n/a
17	CBX3	chr6:32145138-32146913	K562	blood:	n/a	n/a
18	CCNT2	chr6:32144920-32145117	K562	blood:	n/a	n/a
19	CCNT2	chr6:32145576-32146691	K562	blood:	n/a	n/a
20	CEBPB	chr6:32145535-32146254	K562	blood:	n/a	chr6:32145804-32145812
21	CEBPB	chr6:32145419-32146322	K562	blood:	n/a	chr6:32145804-32145812
22	CEBPB	chr6:32144715-32146188	H1-hESC	embryonic stem cell:	n/a	chr6:32145804-32145812
23	CEBPB	chr6:32144689-32145096	K562	blood:	n/a	n/a
24	CEBPB	chr6:32144683-32145273	IMR90	lung:	n/a	n/a
25	CEBPB	chr6:32145553-32146225	IMR90	lung:	n/a	chr6:32145804-32145812
26	CEBPB	chr6:32144701-32146206	A549	lung:	n/a	chr6:32145804-32145812
27	CEBPB	chr6:32145590-32146730	HepG2	liver:	n/a	chr6:32145804-32145812
28	CEBPB	chr6:32144660-32146320	Hela-S3	cervix:	n/a	chr6:32145804-32145812
29	CEBPB	chr6:32145539-32146328	HepG2	liver:	n/a	chr6:32145804-32145812
30	CEBPD	chr6:32145018-32145680	HepG2	liver:	n/a	n/a
31	CEBPZ	chr6:32145059-32146337	HepG2	liver:	n/a	n/a
32	CHD1	chr6:32142297-32147280	IMR90	lung:	n/a	chr6:32146668-32146678 chr6:32142670-32142677 chr6:32146447-32146457
33	CHD1	chr6:32145080-32145628	GM12878	blood:	n/a	n/a
34	CHD1	chr6:32144061-32146049	H1-hESC	embryonic stem cell:	n/a	n/a
35	CHD1	chr6:32146956-32147088	GM12878	blood:	n/a	n/a
36	CHD2	chr6:32145016-32146348	HepG2	liver:	n/a	n/a
37	CHD2	chr6:32144718-32146700	K562	blood:	n/a	chr6:32146668-32146678 chr6:32146447-32146457
38	CHD2	chr6:32145107-32146501	GM12878	blood:	n/a	chr6:32146447-32146457
39	CHD2	chr6:32145014-32146632	H1-hESC	embryonic stem cell:	n/a	chr6:32146447-32146457
40	CHD2	chr6:32144774-32146667	Hela-S3	cervix:	n/a	chr6:32146447-32146457
41	CREB1	chr6:32145128-32146724	K562	blood:	n/a	n/a
42	CREB1	chr6:32145810-32146198	A549	lung:	n/a	n/a
43	CREB1	chr6:32145205-32146292	ECC-1	luminal epithelium:	n/a	n/a
44	CREB1	chr6:32145156-32146691	GM12878	blood:	n/a	n/a
45	CREB1	chr6:32145231-32146312	A549	lung:	n/a	n/a
46	CREB1	chr6:32144998-32146410	K562	blood:	n/a	n/a
47	CREB1	chr6:32143138-32146895	HepG2	liver:	n/a	n/a
48	CREB1	chr6:32144751-32146932	HepG2	liver:	n/a	n/a
49	CREB1	chr6:32145263-32145661	A549	lung:	n/a	n/a
50	CREB1	chr6:32144982-32146303	H1-hESC	embryonic stem cell:	n/a	n/a

(count:2810 , 50 per page) page: 1 2 3 4 5 6 7 ... 57

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:32147670-32147720	NHBE	bronchial:	n/a
2	chr6:32145558-32145608	SAEC	small airway:	n/a
3	chr6:32147670-32147720	GM19239	blood:	n/a
4	chr6:32145626-32145676	HEK293	kidney:	embryo
5	chr6:32147670-32147720	NHBE	bronchial:	n/a
6	chr6:32145558-32145608	SAEC	small airway:	n/a
7	chr6:32147670-32147720	GM19239	blood:	n/a
8	chr6:32145626-32145676	HEK293	kidney:	embryo
9	chr6:32146099-32146149	BE2_C	brain:	n/a
10	chr6:32147753-32147803	HAEpiC	amniotic membrane:	n/a
11	chr6:32146006-32146056	NH-A	brain:	n/a
12	chr6:32146466-32146516	A549	lung:	n/a
13	chr6:32145373-32145423	AG04449	skin:	fetal
14	chr6:32145470-32145520	GM12892	blood:	n/a
15	chr6:32145342-32145392	HCT-116	colon:	n/a
16	chr6:32146232-32146282	NB4	blood:	n/a
17	chr6:32145165-32145215	AG09319	gingival:	n/a
18	chr6:32146779-32146829	Hela-S3	cervix:	n/a
19	chr6:32147753-32147803	H1-hESC	embryonic stem cell:	embryo
20	chr6:32146006-32146056	U87	brain:	n/a
21	chr6:32145745-32145795	HL-60	blood:	n/a
22	chr6:32147440-32147490	SK-N-SH_RA	brain:	n/a
23	chr6:32145755-32145805	AG09319	gingival:	n/a
24	chr6:32145236-32145286	HL-60	blood:	n/a
25	chr6:32145830-32145880	HUVEC	blood vessel:	n/a
26	chr6:32147891-32147941	GM12878	blood:	n/a
27	chr6:32146099-32146149	MCF10A-Er-Src	breast:	n/a
28	chr6:32145376-32145426	CMK	blood:	n/a
29	chr6:32145853-32145903	HIPEpiC	eye:	n/a
30	chr6:32145923-32145973	NHBE	bronchial:	n/a
31	chr6:32145236-32145286	HepG2	liver:	n/a
32	chr6:32145853-32145903	Hepatocyte	liver:	n/a
33	chr6:32145342-32145392	NHBE	bronchial:	n/a
34	chr6:32146548-32146598	ProgFib	skin:	n/a
35	chr6:32145342-32145392	PFSK-1	brain:	n/a
36	chr6:32147894-32147944	BJ	skin:	n/a
37	chr6:32147501-32147551	MCF-7	breast:	n/a
38	chr6:32145745-32145795	RPTEC	kidney:	n/a
39	chr6:32145969-32146019	AG10803	skin:	n/a
40	chr6:32146595-32146645	SK-N-SH_RA	brain:	n/a
41	chr6:32146071-32146121	GM12891	blood:	n/a
42	chr6:32145543-32145593	Jurkat	blood:	n/a
43	chr6:32145383-32145433	GM19239	blood:	n/a
44	chr6:32145904-32145954	PANC-1	pancreas:	n/a
45	chr6:32146520-32146570	GM06990	blood:	n/a
46	chr6:32147891-32147941	NT2-D1	testis:	n/a
47	chr6:32145350-32145400	HCPEpiC	choroid plexus:	n/a
48	chr6:32145793-32145843	AG09319	gingival:	n/a
49	chr6:32147809-32147859	HMEC	breast:	n/a
50	chr6:32147809-32147859	HNPCEpiC	eye:	n/a

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:183353059..183353568-chr6:32145156..32145724,2	Hela-S3	cervix:
2	chr6:32077116..32081057-chr6:32145946..32147600,3	K562	blood:
3	chr6:32093550..32095637-chr6:32144069..32145904,2	MCF-7	breast:
4	chr6:32087451..32089617-chr6:32145273..32147612,2	K562	blood:
5	chr6:32086106..32088129-chr6:32144055..32145773,2	MCF-7	breast:
6	chr6:32096431..32099984-chr6:32142713..32147644,5	MCF-7	breast:
7	chr16:23652493..23653132-chr6:32144901..32145414,2	Hela-S3	cervix:
8	chr6:32124310..32127187-chr6:32144126..32145927,3	MCF-7	breast:
9	chr6:32142678..32147635-chr6:32160639..32166698,10	MCF-7	breast:
10	chr6:32116953..32128256-chr6:32128373..32148325,54	K562	blood:
11	chr6:31762749..31764673-chr6:32143789..32146313,2	K562	blood:
12	chr6:31939077..31941209-chr6:32144185..32146901,2	MCF-7	breast:
13	chr6:32119236..32123483-chr6:32143856..32148114,6	MCF-7	breast:
14	chr6:32144165..32146051-chr6:32937722..32940120,2	MCF-7	breast:
15	chr6:32092992..32099796-chr6:32141629..32147303,15	K562	blood:
16	chr6:32093794..32098047-chr6:32142723..32149394,11	MCF-7	breast:
17	chr6:32117996..32123374-chr6:32143500..32146983,4	MCF-7	breast:
18	chr6:32088117..32090245-chr6:32144940..32147612,2	K562	blood:
19	chr1:9352923..9353490-chr6:32144929..32145668,2	Hela-S3	cervix:
20	chr6:32096229..32099751-chr6:32142407..32148684,10	K562	blood:
21	chr6:26158085..26158907-chr6:32146033..32146770,2	Hela-S3	cervix:
22	chr6:31863902..31865476-chr6:32142561..32145148,2	K562	blood:
23	chr6:32093752..32096112-chr6:32146107..32148004,2	MCF-7	breast:
24	chr6:32147131..32149143-chr6:32937219..32939716,2	K562	blood:

No data

miRNA name	Chromosome Location	mirBase accession
hsa-miR-6833-5p	chr6:32147598-32147619	MIMAT0027566
hsa-miR-6833-3p	chr6:32147633-32147653	MIMAT0027567

No data

Variant related genes	Relation type
AGPAT1	TF binding region
RNF5	TF binding region
AGPAT1	CpG island
RNF5	CpG island
ENSG00000166847	chromatin interactions
ENSG00000204394	chromatin interactions
ENSG00000204315	chromatin interactions
ENSG00000158373	chromatin interactions
ENSG00000114796	chromatin interactions
ENSG00000213676	chromatin interactions
ENSG00000213654	chromatin interactions
ENSG00000168477	chromatin interactions
ENSG00000204314	chromatin interactions
ENSG00000258388	chromatin interactions
ENSG00000083093	chromatin interactions
ENSG00000223837	chromatin interactions
ENSG00000204301	chromatin interactions
ENSG00000171621	chromatin interactions
ENSG00000204348	chromatin interactions
ENSG00000221988	chromatin interactions
ENSG00000204344	chromatin interactions
ENSG00000204256	chromatin interactions
ENSG00000204371	chromatin interactions

Extended variants
information (count: 95 )
Associated
traits (count: 131 )

Variant overlapped rSNPs/rCNVs (count:95 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532698141	chr6:32145053-32145054	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
2	rs191766949	chr6:32145055-32145056	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
3	rs565977501	chr6:32145109-32145110	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
4	rs536841413	chr6:32145172-32145173	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
5	rs3134947	chr6:32145205-32145206	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	18 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs567328186	chr6:32145355-32145356	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	18 gene(s)	Overlapped CNVs	n/a
7	rs17493811	chr6:32145399-32145400	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	18 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs556232978	chr6:32145501-32145502	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
9	rs577690908	chr6:32145506-32145507	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	16 gene(s)	Overlapped CNVs	n/a
10	rs545368482	chr6:32145685-32145686	Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
11	rs554099349	chr6:32145700-32145701	Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	15 gene(s)	Overlapped CNVs	n/a
12	rs2269423	chr6:32145707-32145708	Active TSS Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	15 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs542758753	chr6:32145778-32145779	Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
14	rs184315351	chr6:32145854-32145855	Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
15	rs141920214	chr6:32145865-32145866	Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
16	rs59564381	chr6:32145866-32145867	Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs531796614	chr6:32145880-32145881	Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
18	rs543495442	chr6:32145894-32145895	Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
19	rs564964384	chr6:32145937-32145938	Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
20	rs3134946	chr6:32145993-32145994	Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	15 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs3096689	chr6:32145999-32146000	Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	15 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
22	rs187465580	chr6:32146100-32146101	Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
23	rs530254587	chr6:32146121-32146122	Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
24	rs74395371	chr6:32146133-32146134	Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
25	rs570137390	chr6:32146138-32146139	Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
26	rs9380283	chr6:32146195-32146196	Active TSS Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
27	rs556290117	chr6:32146203-32146204	Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
28	rs201615677	chr6:32146249-32146250	Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
29	rs192954285	chr6:32146250-32146251	Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	Overlapped CNVs	n/a
30	rs538599868	chr6:32146290-32146291	Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	13 gene(s)	Overlapped CNVs	n/a
31	rs377192058	chr6:32146334-32146335	Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
32	rs370126800	chr6:32146344-32146345	Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
33	rs138854481	chr6:32146426-32146427	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
34	rs554113438	chr6:32146444-32146445	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
35	rs372344349	chr6:32146446-32146447	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
36	rs374932399	chr6:32146449-32146450	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
37	rs3134945	chr6:32146492-32146493	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
38	rs542472306	chr6:32146513-32146514	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
39	rs112124640	chr6:32146514-32146515	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
40	rs139977264	chr6:32146548-32146549	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
41	rs57301060	chr6:32146559-32146560	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
42	rs543554669	chr6:32146615-32146616	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
43	rs3134944	chr6:32146644-32146645	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs144014361	chr6:32146652-32146653	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
45	rs9469089	chr6:32146657-32146658	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs530461784	chr6:32146700-32146701	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
47	rs528000552	chr6:32146735-32146736	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
48	rs146416475	chr6:32146763-32146764	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	12 gene(s)	Overlapped CNVs	n/a
49	rs185565399	chr6:32146873-32146874	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
50	rs190444026	chr6:32146968-32146969	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:131)

Disease	PMID	Source
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ovarian cancer	21781307	CNVD
Ependymoma	19289631	CNVD
Breast cancer	22844521	CNVD
Gestational infection	22844521	CNVD
HIV/AIDS	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Renal cell carcinoma	18765545	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
abnormal development	18461090	CNVD
Melanoma	17363583	CNVD
Breast cancer	16397240	CNVD
Retinoblastoma	22278416	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Systemic lupus erythematosus	20877625	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Systemic lupus erythematosus	19279649	CNVD
Retinoblastoma	16790693	CNVD
Acute myocardial infarction	18032375	CNVD
Renal cell carcinoma	19150565	CNVD
Systemic lupus erythematosus	19591781	CNVD
Attention deficit hyperactivity disorder	19287146	CNVD
Autism	19287146	CNVD
Erythema nodosum in leprosy	19287146	CNVD
Henoch-schoenlein purpura	19287146	CNVD
Liver cirrhosis	19287146	CNVD
Systemic lupus erythematosus	19287146	CNVD
Autoimmune disease	19135723	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Systemic lupus erythematosus	19287147	CNVD
Osteosarcoma	16790693	CNVD
Acute lymphoblastic leukemia	22237106	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
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Myelofibrosis	22110671	CNVD
Incontinentia Pigmenti	22033527	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Encephalopathy	20692195	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Immune disease	17576883	CNVD
Multiple myeloma	16616336	CNVD

Chromatin state (count:602 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:32142600-32145600	Flanking Active TSS	Primary B cells from cord blood	blood
2	chr6:32142800-32147000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr6:32143000-32145400	Flanking Active TSS	Colonic Mucosa	Colon
4	chr6:32143000-32145600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
5	chr6:32143000-32145600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
6	chr6:32143000-32145600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
7	chr6:32143000-32147000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr6:32143000-32147000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr6:32143000-32147000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr6:32143200-32145600	Flanking Active TSS	Primary B cells from peripheral blood	blood
11	chr6:32143200-32145600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
12	chr6:32143200-32146600	Active TSS	H1 Cell Line	embryonic stem cell
13	chr6:32143200-32146600	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr6:32143200-32146600	Active TSS	Right Atrium	heart
15	chr6:32143200-32146800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr6:32143200-32146800	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr6:32143200-32147000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr6:32143200-32147000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr6:32143200-32147000	Active TSS	Ovary	ovary
20	chr6:32143200-32147200	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr6:32143200-32147200	Active TSS	H9 Cell Line	embryonic stem cell
22	chr6:32143200-32147200	Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr6:32143200-32147200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr6:32143200-32147200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
25	chr6:32143400-32145400	Active TSS	Aorta	Aorta
26	chr6:32143400-32146600	Active TSS	Left Ventricle	heart
27	chr6:32143400-32146800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr6:32143600-32146600	Active TSS	Psoas Muscle	Psoas
29	chr6:32143600-32146800	Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr6:32143800-32145200	Weak transcription	Lung	lung
31	chr6:32144000-32145200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr6:32144000-32145200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
33	chr6:32144000-32145200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
34	chr6:32144000-32145200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
35	chr6:32144000-32145200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
36	chr6:32144000-32145200	Flanking Active TSS	Brain Hippocampus Middle	brain
37	chr6:32144000-32145200	Flanking Active TSS	Fetal Heart	heart
38	chr6:32144000-32145200	Flanking Active TSS	Rectal Smooth Muscle	rectum
39	chr6:32144000-32145200	Flanking Active TSS	Stomach Smooth Muscle	stomach
40	chr6:32144000-32145400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr6:32144000-32145400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
42	chr6:32144000-32145400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
43	chr6:32144000-32145400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr6:32144000-32145400	Flanking Active TSS	Duodenum Mucosa	Duodenum
45	chr6:32144000-32145400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
46	chr6:32144000-32145400	Flanking Active TSS	Fetal Intestine Large	intestine
47	chr6:32144000-32145400	Flanking Active TSS	Fetal Intestine Small	intestine
48	chr6:32144000-32145400	Flanking Active TSS	Fetal Lung	lung
49	chr6:32144000-32145400	Enhancers	Spleen	Spleen
50	chr6:32144000-32145400	Flanking Active TSS	Hela-S3	cervix

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links