Variant report

Variant	esv3427892
Chromosome Location	chr17:46114053-46116401
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:288)
CpG islands
(count:610)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 2)
miRNA target
sites (count:0)

(count:288 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr17:46114345-46114614	HepG2	liver:	n/a	n/a
2	BACH1	chr17:46114337-46114821	H1-hESC	embryonic stem cell:	n/a	n/a
3	BCL3	chr17:46114232-46114956	A549	lung:	n/a	chr17:46114501-46114509
4	BRCA1	chr17:46114589-46114677	HepG2	liver:	n/a	n/a
5	CHD1	chr17:46114475-46114657	GM12878	blood:	n/a	n/a
6	CHD2	chr17:46114450-46114846	GM12878	blood:	n/a	n/a
7	CHD2	chr17:46114466-46114594	H1-hESC	embryonic stem cell:	n/a	n/a
8	CREB1	chr17:46115271-46115723	A549	lung:	n/a	n/a
9	CREB1	chr17:46114387-46115048	A549	lung:	n/a	n/a
10	CTCF	chr17:46114460-46114610	NHLF	lung:	n/a	n/a
11	CTCF	chr17:46113649-46115069	SK-N-SH	brain:	n/a	n/a
12	CTCF	chr17:46114420-46114570	HMF	breast:	n/a	n/a
13	CTCF	chr17:46115117-46115186	GM19239	blood:	n/a	n/a
14	CTCF	chr17:46114362-46114580	SK-N-SH_RA	brain:	n/a	n/a
15	CTCF	chr17:46114420-46114570	Caco-2	colon:	n/a	n/a
16	CTCF	chr17:46114400-46114550	SK-N-SH_RA	brain:	n/a	n/a
17	CTCF	chr17:46114367-46114664	A549	lung:	n/a	n/a
18	CTCF	chr17:46114400-46114550	HA-sp	spinal cord:	n/a	n/a
19	CTCF	chr17:46114420-46114570	HCFaa	heart:	n/a	n/a
20	CTCF	chr17:46114420-46114570	AG04449	skin:	n/a	n/a
21	CTCF	chr17:46114420-46114570	GM12871	blood:	n/a	n/a
22	CTCF	chr17:46114420-46114570	GM12875	blood:	n/a	n/a
23	CTCF	chr17:46114440-46114590	BJ	skin:	n/a	n/a
24	CTCF	chr17:46114420-46114570	MCF-7	breast:	n/a	n/a
25	CTCF	chr17:46114440-46114590	GM12873	blood:	n/a	n/a
26	CTCF	chr17:46114420-46114570	HUVEC	blood vessel:	n/a	n/a
27	CTCF	chr17:46115134-46115153	MCF-7	breast:	n/a	n/a
28	CTCF	chr17:46114353-46114635	Gliobla	brain:	n/a	n/a
29	CTCF	chr17:46114348-46114769	GM12891	blood:	n/a	n/a
30	CTCF	chr17:46114420-46114570	AoAF	blood vessel:	n/a	n/a
31	CTCF	chr17:46114398-46114617	GM20000	blood:	n/a	n/a
32	CTCF	chr17:46114400-46114550	RPTEC	kidney:	n/a	n/a
33	CTCF	chr17:46114440-46114590	HBMEC	blood vessel:	n/a	n/a
34	CTCF	chr17:46114400-46114550	HL-60	blood:	n/a	n/a
35	CTCF	chr17:46114420-46114570	AG09309	skin:	n/a	n/a
36	CTCF	chr17:46115107-46115176	GM12891	blood:	n/a	n/a
37	CTCF	chr17:46114460-46114610	BE2_C	brain:	n/a	n/a
38	CTCF	chr17:46114420-46114570	AG04450	lung:	n/a	n/a
39	CTCF	chr17:46114355-46114649	MCF-7	breast:	n/a	n/a
40	CTCF	chr17:46114292-46114608	H1-hESC	embryonic stem cell:	n/a	n/a
41	CTCF	chr17:46114140-46114290	K562	blood:	n/a	n/a
42	CTCF	chr17:46114420-46114570	GM12870	blood:	n/a	n/a
43	CTCF	chr17:46114420-46114570	HEEpiC	esophagus:	n/a	n/a
44	CTCF	chr17:46114400-46114550	GM12874	blood:	n/a	n/a
45	CTCF	chr17:46114440-46114590	HUVEC	blood vessel:	n/a	n/a
46	CTCF	chr17:46114380-46114530	HFF-Myc	foreskin:	n/a	n/a
47	CTCF	chr17:46114040-46114190	HPF	lung:	n/a	n/a
48	CTCF	chr17:46114400-46114550	AG10803	skin:	n/a	n/a
49	CTCF	chr17:46113960-46114110	GM12878	blood:	n/a	n/a
50	CTCF	chr17:46114400-46114550	MCF-7	breast:	n/a	n/a

(count:610 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr17:46115450-46115500	GM12891	blood:	n/a
2	chr17:46114615-46114665	HEEpiC	esophagus:	n/a
3	chr17:46114933-46114983	HAEpiC	amniotic membrane:	n/a
4	chr17:46114672-46114722	LNCaP	prostate:	n/a
5	chr17:46114811-46114861	Hela-S3	cervix:	n/a
6	chr17:46115450-46115500	BJ	skin:	n/a
7	chr17:46114933-46114983	NT2-D1	testis:	n/a
8	chr17:46115450-46115500	CMK	blood:	n/a
9	chr17:46114615-46114665	HCM	heart:	n/a
10	chr17:46114811-46114861	AG09309	skin:	n/a
11	chr17:46114615-46114665	AG10803	skin:	n/a
12	chr17:46114620-46114670	SK-N-SH_RA	brain:	n/a
13	chr17:46114674-46114724	SAEC	small airway:	n/a
14	chr17:46114615-46114665	AG09309	skin:	n/a
15	chr17:46114574-46114624	NH-A	brain:	n/a
16	chr17:46114615-46114665	H1-hESC	embryonic stem cell:	embryo
17	chr17:46114574-46114624	SKMC	muscle:	n/a
18	chr17:46115450-46115500	ProgFib	skin:	n/a
19	chr17:46114674-46114724	AoSMC	blood vessel:	n/a
20	chr17:46115450-46115500	SK-N-SH	brain:	n/a
21	chr17:46115450-46115500	HepG2	liver:	n/a
22	chr17:46115407-46115457	K562	blood:	n/a
23	chr17:46114811-46114861	NHDF-neo	bronchial:	n/a
24	chr17:46114933-46114983	U87	brain:	n/a
25	chr17:46115407-46115457	AG04450	lung:	fetal
26	chr17:46114237-46114287	HUVEC	blood vessel:	n/a
27	chr17:46115407-46115457	LNCaP	prostate:	n/a
28	chr17:46114933-46114983	AG09309	skin:	n/a
29	chr17:46114615-46114665	PFSK-1	brain:	n/a
30	chr17:46114237-46114287	K562	blood:	n/a
31	chr17:46114574-46114624	NHDF-neo	bronchial:	n/a
32	chr17:46114674-46114724	HEEpiC	esophagus:	n/a
33	chr17:46114674-46114724	HepG2	liver:	n/a
34	chr17:46114615-46114665	GM12892	blood:	n/a
35	chr17:46114620-46114670	NH-A	brain:	n/a
36	chr17:46114672-46114722	AG10803	skin:	n/a
37	chr17:46115407-46115457	HEK293	kidney:	embryo
38	chr17:46114620-46114670	ProgFib	skin:	n/a
39	chr17:46114620-46114670	Jurkat	blood:	n/a
40	chr17:46114574-46114624	U87	brain:	n/a
41	chr17:46114933-46114983	K562	blood:	n/a
42	chr17:46114615-46114665	SKMC	muscle:	n/a
43	chr17:46115407-46115457	T-47D	breast:	n/a
44	chr17:46114811-46114861	T-47D	breast:	n/a
45	chr17:46114237-46114287	MCF-7	breast:	n/a
46	chr17:46114811-46114861	Caco-2	colon:	n/a
47	chr17:46114811-46114861	HPAEpiC	pulmonary alveolar:	n/a
48	chr17:46114674-46114724	HRE	kidney:	n/a
49	chr17:46114933-46114983	HMEC	breast:	n/a
50	chr17:46114811-46114861	SAEC	small airway:	n/a

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:46114300..46116159-chr17:46124838..46126678,3	K562	blood:
2	chr16:67063760..67064283-chr17:46114502..46115278,2	MCF-7	breast:

No data

miRNA name	Chromosome Location	mirBase accession
hsa-miR-152-3p	chr17:46114540-46114560	MIMAT0000438
hsa-miR-152-5p	chr17:46114576-46114598	MIMAT0026479

No data

Variant related genes	Relation type
MIR152	TF binding region
COPZ2	TF binding region
MIR152	CpG island
COPZ2	CpG island
ENSG00000082641	chromatin interactions
ENSG00000263412	chromatin interactions
ENSG00000067955	chromatin interactions
DNMT1	Mature miRNA region
IRS1	Mature miRNA region
R3HCC1L	Mature miRNA region
HS6ST2	Mature miRNA region
TGFA	Mature miRNA region
IGF1R	Mature miRNA region
ECHS1	Mature miRNA region
SETDB1	Mature miRNA region
HLA-G	Mature miRNA region

Extended variants
information (count: 90 )
Associated
traits (count: 119 )

Variant overlapped rSNPs/rCNVs (count:90 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190658448	chr17:46114061-46114062	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs548886148	chr17:46114069-46114070	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs183206424	chr17:46114086-46114087	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs148534009	chr17:46114200-46114201	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs531503373	chr17:46114214-46114215	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs551656537	chr17:46114250-46114251	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
7	rs570241677	chr17:46114285-46114286	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
8	rs376962013	chr17:46114299-46114300	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs571221222	chr17:46114301-46114302	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs370080194	chr17:46114336-46114337	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs527297874	chr17:46114484-46114485	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs373358902	chr17:46114494-46114495	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs547445418	chr17:46114518-46114519	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs200114569	chr17:46114572-46114573	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs536388023	chr17:46114580-46114581	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Enhancers	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	Overlapped CNVs	n/a
16	rs556478061	chr17:46114610-46114611	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs12940701	chr17:46114620-46114621	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs547642798	chr17:46114630-46114631	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
19	rs41280120	chr17:46114692-46114693	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs559221467	chr17:46114705-46114706	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
21	rs150019992	chr17:46114725-46114726	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
22	rs572082035	chr17:46114729-46114730	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
23	rs113427913	chr17:46114747-46114748	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
24	rs554574584	chr17:46114750-46114751	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs574580753	chr17:46114791-46114792	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs145389929	chr17:46114822-46114823	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs575497678	chr17:46114938-46114939	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs546081838	chr17:46114954-46114955	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs191560950	chr17:46114956-46114957	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs182901120	chr17:46114967-46114968	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region CpG island Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs531541556	chr17:46114997-46114998	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs566093515	chr17:46115010-46115011	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs544940144	chr17:46115024-46115025	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs372375586	chr17:46115045-46115046	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs199699704	chr17:46115072-46115073	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs375483731	chr17:46115075-46115076	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
37	rs201261614	chr17:46115084-46115085	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs565199605	chr17:46115105-46115106	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs587693257	chr17:46115122-46115123	Bivalent/Poised TSS Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs138768923	chr17:46115200-46115201	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs142880760	chr17:46115206-46115207	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs113121507	chr17:46115216-46115217	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs187959271	chr17:46115222-46115223	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
44	rs117213528	chr17:46115278-46115279	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs191141052	chr17:46115307-46115308	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs547406808	chr17:46115331-46115332	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs567318730	chr17:46115333-46115334	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs529709687	chr17:46115368-46115369	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
49	rs115610453	chr17:46115372-46115373	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs570119111	chr17:46115388-46115389	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:119)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Ovarian cancer	22174824	CNVD
Melanoma	18172304	CNVD
Moyamoya disease	22323933	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ovarian cancer	21781307	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Medulloblastoma	21979893	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell lymphomas	19863542	CNVD
Cancer	16751803	CNVD
Chordoma	21602918	CNVD
Neurofibromatosis	20686819	CNVD
Peripheral nerve sheath tumors	20686819	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Cancer	21499728	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Medulloblastoma	21292688	CNVD
Neuroblastoma	18923524	CNVD
Neuroblastoma	17897457	CNVD
Neuroblastoma	17327916	CNVD
Breast cancer	21264507	CNVD
Endometrial cancer	22040021	CNVD
Neuroblastoma	21484798	CNVD
Breast cancer	22028636	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute myeloid leukemia	20724749	CNVD
Breast cancer	21858162	CNVD
lymphocytic leukemia	21291569	CNVD
Gastric cancer	17167181	CNVD
Breast cancer	19287154	CNVD
Leukemia	20874852	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Neuroblastoma	18664255	CNVD
Neuroblastoma	17533364	CNVD
Human rectal carcinomas	16397240	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Breast cancer	17457667	CNVD
Breast cancer	16951389	CNVD
Basal cell lymphoma	17053054	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22048815	CNVD
Breast cancer	17603634	CNVD
Follicular lymphoma	20505157	CNVD
Non-small cell lung cancer	20864512	CNVD
Cancer	21183584	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	20953835	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
TAR Syndrome	17847015	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17850661	CNVD
Breast cancer	19261255	CNVD
Lung cancer	16773561	CNVD
Neurocytoma	17123091	CNVD
Central neurocytomas	17123091	CNVD
Basal-like breast cancer	18066063	CNVD
Breast cancer	20031965	CNVD
Colorectal cancer	19287155	CNVD
Hereditary breast	19566914	CNVD
Ovarian cancer	19047089	CNVD
Ovarian cancer	19566914	CNVD
Triple-negative breast cancer	18950515	CNVD
Breast cancer	16846527	CNVD
Bladder cancer	21909424	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
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Acute myeloid leukemia	21251322	CNVD
Ewing''s sarcoma	22429812	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	16397240	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Myelofibrosis	22110671	CNVD
Prostate cancer	17217626	CNVD
Non-syndromic sensorineural hearing loss	21084979	CNVD
Autism	22817714	CNVD
Breast cancer	20409316	CNVD
Cancer	17160897	CNVD
Frontotemporal lobar degeneration	19640594	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Anaplastic thyroid cancer	18753363	CNVD
small cell lung cancer	17426248	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Chronic lymphocytic leukemia	21546498	CNVD

Chromatin state (count:505 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46104400-46114200	Weak transcription	Brain Substantia Nigra	brain
2	chr17:46108400-46114200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr17:46108400-46114200	Weak transcription	Brain Anterior Caudate	brain
4	chr17:46108400-46114200	Weak transcription	Brain Cingulate Gyrus	brain
5	chr17:46108400-46114200	Weak transcription	Esophagus	oesophagus
6	chr17:46111200-46114200	Weak transcription	Aorta	Aorta
7	chr17:46111400-46114200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr17:46111400-46114200	Weak transcription	Spleen	Spleen
9	chr17:46113800-46114200	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr17:46113800-46114200	Enhancers	Colon Smooth Muscle	Colon
11	chr17:46113800-46114200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
12	chr17:46113800-46114200	Enhancers	Right Atrium	heart
13	chr17:46113800-46114200	Enhancers	HSMM	muscle
14	chr17:46113800-46114400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr17:46113800-46114400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr17:46113800-46114400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr17:46113800-46114400	Bivalent Enhancer	Fetal Intestine Small	intestine
18	chr17:46113800-46114400	Flanking Active TSS	NHDF-Ad	bronchial
19	chr17:46113800-46114600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
20	chr17:46113800-46114600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr17:46113800-46114600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
22	chr17:46114000-46114200	Flanking Bivalent TSS/Enh	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr17:46114000-46114200	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr17:46114000-46114200	Bivalent/Poised TSS	Primary B cells from cord blood	blood
25	chr17:46114000-46114200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
26	chr17:46114000-46114200	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
27	chr17:46114000-46114200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
28	chr17:46114000-46114200	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
29	chr17:46114000-46114200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr17:46114000-46114200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr17:46114000-46114200	Bivalent Enhancer	Brain Angular Gyrus	brain
32	chr17:46114000-46114200	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr17:46114000-46114200	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
34	chr17:46114000-46114200	Bivalent Enhancer	Colonic Mucosa	Colon
35	chr17:46114000-46114200	Bivalent Enhancer	Duodenum Mucosa	Duodenum
36	chr17:46114000-46114200	Flanking Active TSS	Fetal Muscle Trunk	muscle
37	chr17:46114000-46114200	Bivalent Enhancer	Placenta	Placenta
38	chr17:46114000-46114200	Flanking Active TSS	Fetal Stomach	stomach
39	chr17:46114000-46114200	Enhancers	Left Ventricle	heart
40	chr17:46114000-46114200	Enhancers	Placenta Amnion	Placenta Amnion
41	chr17:46114000-46114200	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
42	chr17:46114000-46114200	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
43	chr17:46114000-46114200	Enhancers	Right Ventricle	heart
44	chr17:46114000-46114200	Enhancers	A549	lung
45	chr17:46114000-46114200	Flanking Active TSS	HSMMtube	muscle
46	chr17:46114000-46114200	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
47	chr17:46114000-46114400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr17:46114000-46114400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr17:46114000-46114400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
50	chr17:46114000-46114400	Bivalent Enhancer	Primary B cells from peripheral blood	blood

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