Variant report

Variant	esv3442423
Chromosome Location	chr15:40582485-40585033
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BACH1	chr15:40583322-40583631	H1-hESC	embryonic stem cell:	n/a	n/a
2	BHLHE40	chr15:40583254-40583763	K562	blood:	n/a	n/a
3	BRCA1	chr15:40583557-40583611	Hela-S3	cervix:	n/a	n/a
4	CBX3	chr15:40583507-40583799	K562	blood:	n/a	n/a
5	CBX3	chr15:40583181-40583494	K562	blood:	n/a	n/a
6	CCNT2	chr15:40583326-40583732	K562	blood:	n/a	n/a
7	CEBPB	chr15:40583465-40583593	Hela-S3	cervix:	n/a	n/a
8	CHD1	chr15:40583706-40583728	H1-hESC	embryonic stem cell:	n/a	n/a
9	CHD2	chr15:40583343-40583777	H1-hESC	embryonic stem cell:	n/a	n/a
10	CHD2	chr15:40583375-40583757	K562	blood:	n/a	n/a
11	CHD2	chr15:40583393-40583826	Hela-S3	cervix:	n/a	n/a
12	CHD2	chr15:40583520-40583692	HepG2	liver:	n/a	n/a
13	CTCF	chr15:40583320-40583470	NHEK	skin:	n/a	chr15:40583432-40583445
14	CTCF	chr15:40583320-40583470	SAEC	small airway:	n/a	chr15:40583432-40583445
15	CTCF	chr15:40583220-40583370	HMEC	breast:	n/a	n/a
16	CTCF	chr15:40583893-40583969	H1-hESC	embryonic stem cell:	n/a	chr15:40583944-40583957 chr15:40583922-40583932
17	CTCF	chr15:40583697-40584154	H1-hESC	embryonic stem cell:	n/a	chr15:40583944-40583957 chr15:40583922-40583932
18	CTCF	chr15:40583340-40583490	SAEC	small airway:	n/a	chr15:40583432-40583445
19	CTCF	chr15:40583860-40584010	Caco-2	colon:	n/a	chr15:40583944-40583957 chr15:40583922-40583932
20	CTCF	chr15:40583760-40583910	HEK293	kidney:	n/a	n/a
21	CTCF	chr15:40583880-40584030	Hela-S3	cervix:	n/a	chr15:40583944-40583957 chr15:40583922-40583932
22	CTCF	chr15:40583600-40583750	AoAF	blood vessel:	n/a	n/a
23	CTCF	chr15:40583280-40583430	AG04449	skin:	n/a	n/a
24	CTCF	chr15:40583560-40583710	AG04449	skin:	n/a	n/a
25	CTCF	chr15:40583407-40583444	Kidney_OC	kidney:	n/a	n/a
26	CTCF	chr15:40583860-40584010	HUVEC	blood vessel:	n/a	chr15:40583944-40583957 chr15:40583922-40583932
27	E2F6	chr15:40583131-40583809	K562	blood:	n/a	n/a
28	E2F6	chr15:40582744-40583907	H1-hESC	embryonic stem cell:	n/a	chr15:40583096-40583105
29	E2F6	chr15:40583237-40583712	K562	blood:	n/a	n/a
30	E2F6	chr15:40582665-40584123	H1-hESC	embryonic stem cell:	n/a	chr15:40583096-40583105
31	E2F6	chr15:40583184-40583753	A549	lung:	n/a	n/a
32	E2F6	chr15:40583194-40583626	A549	lung:	n/a	n/a
33	E2F6	chr15:40583146-40583736	K562	blood:	n/a	n/a
34	GABPA	chr15:40583254-40583745	H1-hESC	embryonic stem cell:	n/a	n/a
35	GABPA	chr15:40583152-40583802	H1-hESC	embryonic stem cell:	n/a	n/a
36	HEY1	chr15:40583438-40583665	K562	blood:	n/a	n/a
37	HMGN3	chr15:40583342-40583764	K562	blood:	n/a	n/a
38	MAX	chr15:40583177-40583785	SK-N-SH	brain:	n/a	chr15:40583392-40583402 chr15:40583393-40583402 chr15:40583393-40583402 chr15:40583393-40583402
39	MAX	chr15:40582747-40583526	H1-hESC	embryonic stem cell:	n/a	chr15:40583392-40583402 chr15:40583393-40583402 chr15:40583393-40583402 chr15:40583393-40583402
40	MAX	chr15:40583141-40583733	MCF-7	breast:	n/a	chr15:40583392-40583402 chr15:40583393-40583402 chr15:40583393-40583402 chr15:40583393-40583402
41	MAX	chr15:40582722-40583855	H1-hESC	embryonic stem cell:	n/a	chr15:40583392-40583402 chr15:40583393-40583402 chr15:40583393-40583402 chr15:40583393-40583402
42	MAX	chr15:40583282-40583510	HepG2	liver:	n/a	chr15:40583392-40583402 chr15:40583393-40583402 chr15:40583393-40583402 chr15:40583393-40583402
43	MAX	chr15:40583147-40583704	K562	blood:	n/a	chr15:40583392-40583402 chr15:40583393-40583402 chr15:40583393-40583402 chr15:40583393-40583402
44	MAX	chr15:40583115-40583729	A549	lung:	n/a	chr15:40583392-40583402 chr15:40583393-40583402 chr15:40583393-40583402 chr15:40583393-40583402
45	MAX	chr15:40583240-40583790	Hela-S3	cervix:	n/a	chr15:40583392-40583402 chr15:40583393-40583402 chr15:40583393-40583402 chr15:40583393-40583402
46	MAX	chr15:40583102-40583962	HCT-116	colon:	n/a	chr15:40583392-40583402 chr15:40583393-40583402 chr15:40583393-40583402 chr15:40583393-40583402
47	MAX	chr15:40583095-40583873	A549	lung:	n/a	chr15:40583392-40583402 chr15:40583393-40583402 chr15:40583393-40583402 chr15:40583393-40583402
48	MAX	chr15:40583150-40583884	ECC-1	luminal epithelium:	n/a	chr15:40583392-40583402 chr15:40583393-40583402 chr15:40583393-40583402 chr15:40583393-40583402
49	MAX	chr15:40583262-40583505	A549	lung:	n/a	chr15:40583392-40583402 chr15:40583393-40583402 chr15:40583393-40583402 chr15:40583393-40583402
50	MAX	chr15:40583156-40583839	SK-N-SH	brain:	n/a	chr15:40583392-40583402 chr15:40583393-40583402 chr15:40583393-40583402 chr15:40583393-40583402

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr15:40583241-40583291	AoSMC	blood vessel:	n/a
2	chr15:40583241-40583291	ProgFib	skin:	n/a
3	chr15:40583227-40583277	AG09319	gingival:	n/a
4	chr15:40583422-40583472	PANC-1	pancreas:	n/a
5	chr15:40583227-40583277	GM12892	blood:	n/a
6	chr15:40583422-40583472	SK-N-SH	brain:	n/a
7	chr15:40583241-40583291	SAEC	small airway:	n/a
8	chr15:40583227-40583277	AG10803	skin:	n/a
9	chr15:40583422-40583472	AoSMC	blood vessel:	n/a
10	chr15:40583227-40583277	ECC-1	luminal epithelium:	n/a
11	chr15:40583422-40583472	HRCEpiC	kidney:	n/a
12	chr15:40583227-40583277	PFSK-1	brain:	n/a
13	chr15:40583227-40583277	T-47D	breast:	n/a
14	chr15:40583241-40583291	SK-N-SH	brain:	n/a
15	chr15:40583422-40583472	HAEpiC	amniotic membrane:	n/a
16	chr15:40583227-40583277	AG04450	lung:	fetal
17	chr15:40583227-40583277	HL-60	blood:	n/a
18	chr15:40583422-40583472	Hepatocyte	liver:	n/a
19	chr15:40583227-40583277	U87	brain:	n/a
20	chr15:40583241-40583291	BJ	skin:	n/a
21	chr15:40583241-40583291	T-47D	breast:	n/a
22	chr15:40583241-40583291	HCF	heart:	n/a
23	chr15:40583422-40583472	U87	brain:	n/a
24	chr15:40583227-40583277	SK-N-SH_RA	brain:	n/a
25	chr15:40583241-40583291	HCT-116	colon:	n/a
26	chr15:40583241-40583291	HRE	kidney:	n/a
27	chr15:40583227-40583277	HIPEpiC	eye:	n/a
28	chr15:40583241-40583291	AG04449	skin:	fetal
29	chr15:40583227-40583277	PrEC	prostate:	n/a
30	chr15:40583241-40583291	LNCaP	prostate:	n/a
31	chr15:40583422-40583472	K562	blood:	n/a
32	chr15:40583241-40583291	IMR90	lung:	fetal
33	chr15:40583422-40583472	HL-60	blood:	n/a
34	chr15:40583241-40583291	NHBE	bronchial:	n/a
35	chr15:40583422-40583472	CMK	blood:	n/a
36	chr15:40583227-40583277	HCPEpiC	choroid plexus:	n/a
37	chr15:40583241-40583291	HMEC	breast:	n/a
38	chr15:40583241-40583291	HPAEpiC	pulmonary alveolar:	n/a
39	chr15:40583422-40583472	SK-N-SH_RA	brain:	n/a
40	chr15:40583241-40583291	SK-N-MC	brain:	n/a
41	chr15:40583227-40583277	GM12891	blood:	n/a
42	chr15:40583422-40583472	SK-N-MC	brain:	n/a
43	chr15:40583241-40583291	HIPEpiC	eye:	n/a
44	chr15:40583422-40583472	T-47D	breast:	n/a
45	chr15:40583227-40583277	HMEC	breast:	n/a
46	chr15:40583422-40583472	HRPEpiC	eye:	n/a
47	chr15:40583422-40583472	NB4	blood:	n/a
48	chr15:40583227-40583277	HCM	heart:	n/a
49	chr15:40583227-40583277	GM12878	blood:	n/a
50	chr15:40583227-40583277	AoSMC	blood vessel:	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:40580757..40582494-chr15:40588755..40591598,2	K562	blood:
2	chr15:40582955..40585204-chr15:40588565..40592686,6	K562	blood:
3	chr15:40583616..40585723-chr15:40614548..40617090,2	K562	blood:
4	chr15:40582955..40584944-chr15:40588565..40590383,2	K562	blood:
5	chr15:40581027..40584497-chr15:40588911..40592089,3	MCF-7	breast:
6	chr15:40581743..40583725-chr15:40632082..40634284,2	MCF-7	breast:
7	chr15:40580563..40582571-chr15:40659855..40662035,2	K562	blood:
8	chr15:40583247..40584804-chr15:40630582..40632469,2	MCF-7	breast:

Variant related genes	Relation type
PLCB2	TF binding region
PLCB2	CpG island
ENSG00000137841	chromatin interactions
ENSG00000259368	chromatin interactions
ENSG00000188549	chromatin interactions

Extended variants
information (count: 105 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:105 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs936211	chr15:40582499-40582500	Bivalent Enhancer Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs547059936	chr15:40582514-40582515	Bivalent Enhancer Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs533055593	chr15:40582528-40582529	Bivalent Enhancer Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs142460261	chr15:40582551-40582552	Bivalent Enhancer Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs72731484	chr15:40582598-40582599	Bivalent Enhancer Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs144701413	chr15:40582605-40582606	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs549180575	chr15:40582613-40582614	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs936210	chr15:40582647-40582648	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs535151179	chr15:40582672-40582673	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs551461844	chr15:40582683-40582684	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs34370826	chr15:40582714-40582715	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs375020097	chr15:40582728-40582729	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs571660582	chr15:40582759-40582760	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs367672248	chr15:40582762-40582763	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs78490614	chr15:40582767-40582768	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs35092098	chr15:40582804-40582805	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs374741707	chr15:40582816-40582817	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs201513540	chr15:40582819-40582820	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs200542440	chr15:40582841-40582842	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs574409813	chr15:40582849-40582850	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs373461445	chr15:40582872-40582873	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs376364567	chr15:40582906-40582907	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs147940268	chr15:40582909-40582910	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs374781926	chr15:40582939-40582940	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs199741833	chr15:40582952-40582953	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs373682139	chr15:40582961-40582962	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs267604173	chr15:40582964-40582965	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs201270122	chr15:40582967-40582968	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs370298493	chr15:40582983-40582984	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs373007934	chr15:40582997-40582998	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs562330280	chr15:40583014-40583015	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs376204317	chr15:40583069-40583070	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs371406089	chr15:40583085-40583086	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs2412506	chr15:40583093-40583094	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs117658605	chr15:40583107-40583108	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs543015771	chr15:40583156-40583157	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs370853127	chr15:40583201-40583202	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs140547653	chr15:40583223-40583224	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs367877099	chr15:40583242-40583243	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs533090413	chr15:40583251-40583252	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs34256638	chr15:40583261-40583262	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs371644992	chr15:40583271-40583272	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs559524517	chr15:40583343-40583344	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs528571316	chr15:40583360-40583361	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs373627471	chr15:40583408-40583409	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs936209	chr15:40583458-40583459	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs372712586	chr15:40583475-40583476	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs571777565	chr15:40583552-40583553	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
49	rs62021888	chr15:40583560-40583561	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs10400833	chr15:40583566-40583567	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:70)

Disease	PMID	Source
HDAC8	0	CNVD
NIPBL	0	CNVD
RAD21	0	CNVD
SMC1A	0	CNVD
SMC3	0	CNVD
Ewing''s sarcoma	21437220	CNVD
Schizophrenia	19415332	CNVD
Breast cancer	22522925	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Angelman syndrome	16183798	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Testicular germ cell tumor	18059402	CNVD
cataract	16735990	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	21979893	CNVD
spastic paraplegia with thinning of corpus callosum	19105190	CNVD
Schizophrenia	21324950	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Disease	21824424	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16774939	CNVD
Gastric cancer	17167181	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Colorectal cancer	16272173	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Multiple myeloma	17550852	CNVD
Intellectual disability	22102821	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Multiple myeloma	20724749	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21785460	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	17053054	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Myelofibrosis	22110671	CNVD
Cancer	21129771	CNVD
Breast cancer	21045282	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	22032731	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Multiple myeloma	16616336	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
early-passage human iPS cells	21368824	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:328 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40572000-40592800	Weak transcription	Dnd41	blood
2	chr15:40575600-40582800	Weak transcription	Right Atrium	heart
3	chr15:40575800-40584400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr15:40575800-40592600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr15:40576000-40590800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr15:40576200-40592600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr15:40577400-40593200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr15:40577600-40582800	Weak transcription	Brain Hippocampus Middle	brain
9	chr15:40577800-40593000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr15:40578000-40596000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr15:40578200-40582600	Weak transcription	Colon Smooth Muscle	Colon
12	chr15:40578200-40583200	Weak transcription	HUVEC	blood vessel
13	chr15:40578200-40585400	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr15:40578400-40587600	Enhancers	Fetal Heart	heart
15	chr15:40578600-40587200	Strong transcription	Spleen	Spleen
16	chr15:40578800-40583200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr15:40578800-40585600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr15:40578800-40592600	Strong transcription	Primary T cells from cord blood	blood
19	chr15:40579000-40583200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr15:40579000-40583200	Weak transcription	Left Ventricle	heart
21	chr15:40579000-40585400	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr15:40579000-40591600	Strong transcription	Thymus	Thymus
23	chr15:40579000-40592800	Strong transcription	Primary T helper cells PMA-I stimulated	--
24	chr15:40579000-40592800	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr15:40579000-40595200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr15:40579000-40595600	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr15:40579200-40582600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr15:40579200-40582800	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr15:40579200-40597000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr15:40579400-40585400	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr15:40579600-40583200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr15:40579800-40582600	Weak transcription	Fetal Lung	lung
33	chr15:40579800-40583000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr15:40579800-40592800	Strong transcription	Primary B cells from peripheral blood	blood
35	chr15:40580400-40582800	Strong transcription	Fetal Thymus	thymus
36	chr15:40580400-40582800	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr15:40580400-40583200	Weak transcription	Psoas Muscle	Psoas
38	chr15:40580600-40582800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr15:40580800-40583400	Weak transcription	A549	lung
40	chr15:40581200-40582600	Enhancers	Pancreas	Pancrea
41	chr15:40581200-40582800	Bivalent Enhancer	Fetal Stomach	stomach
42	chr15:40581200-40582800	Weak transcription	Lung	lung
43	chr15:40581200-40583200	Weak transcription	Right Ventricle	heart
44	chr15:40581400-40582600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr15:40581400-40592000	Strong transcription	Primary B cells from cord blood	blood
46	chr15:40581600-40582800	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr15:40581600-40583000	Bivalent Enhancer	Stomach Mucosa	stomach
48	chr15:40581600-40583200	Bivalent Enhancer	Fetal Muscle Leg	muscle
49	chr15:40581600-40592200	Strong transcription	Primary hematopoietic stem cells	blood
50	chr15:40581800-40582600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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