Variant report

Variant	esv1837343
Chromosome Location	chr3:61546425-61550452
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	ARID3A	chr3:61546348-61547410	HepG2	liver:	n/a	n/a
2	ATF2	chr3:61546768-61547241	H1-hESC	embryonic stem cell:	n/a	n/a
3	ATF2	chr3:61546127-61546816	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr3:61550039-61550697	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr3:61546913-61546993	H1-hESC	embryonic stem cell:	n/a	n/a
6	BACH1	chr3:61546097-61546615	H1-hESC	embryonic stem cell:	n/a	n/a
7	BACH1	chr3:61549892-61550733	H1-hESC	embryonic stem cell:	n/a	n/a
8	BHLHE40	chr3:61548846-61548873	GM12878	blood:	n/a	n/a
9	BHLHE40	chr3:61550308-61550544	GM12878	blood:	n/a	n/a
10	BHLHE40	chr3:61547632-61547639	GM12878	blood:	n/a	n/a
11	BHLHE40	chr3:61546738-61547318	GM12878	blood:	n/a	n/a
12	BHLHE40	chr3:61546189-61546457	GM12878	blood:	n/a	n/a
13	BRCA1	chr3:61550375-61550474	H1-hESC	embryonic stem cell:	n/a	n/a
14	BRCA1	chr3:61547062-61547312	HepG2	liver:	n/a	n/a
15	BRCA1	chr3:61546481-61546734	H1-hESC	embryonic stem cell:	n/a	n/a
16	CEBPB	chr3:61546178-61546788	HepG2	liver:	n/a	chr3:61546567-61546576 chr3:61546565-61546576 chr3:61546567-61546576 chr3:61546567-61546576
17	CEBPB	chr3:61546170-61546878	HepG2	liver:	n/a	chr3:61546567-61546576 chr3:61546565-61546576 chr3:61546567-61546576 chr3:61546567-61546576
18	CEBPB	chr3:61546159-61546826	A549	lung:	n/a	chr3:61546567-61546576 chr3:61546565-61546576 chr3:61546567-61546576 chr3:61546567-61546576
19	CEBPB	chr3:61546378-61546759	K562	blood:	n/a	chr3:61546567-61546576 chr3:61546565-61546576 chr3:61546567-61546576 chr3:61546567-61546576
20	CEBPB	chr3:61546270-61546755	A549	lung:	n/a	chr3:61546567-61546576 chr3:61546565-61546576 chr3:61546567-61546576 chr3:61546567-61546576
21	CEBPB	chr3:61546154-61546860	ECC-1	luminal epithelium:	n/a	chr3:61546567-61546576 chr3:61546565-61546576 chr3:61546567-61546576 chr3:61546567-61546576
22	CEBPB	chr3:61546007-61547518	HCT-116	colon:	n/a	chr3:61546132-61546143 chr3:61546567-61546576 chr3:61546132-61546143 chr3:61546565-61546576 chr3:61546567-61546576 chr3:61546567-61546576
23	CEBPB	chr3:61546264-61546776	A549	lung:	n/a	chr3:61546567-61546576 chr3:61546565-61546576 chr3:61546567-61546576 chr3:61546567-61546576
24	CEBPB	chr3:61546277-61546711	HepG2	liver:	n/a	chr3:61546567-61546576 chr3:61546565-61546576 chr3:61546567-61546576 chr3:61546567-61546576
25	CEBPB	chr3:61546164-61547245	H1-hESC	embryonic stem cell:	n/a	chr3:61546567-61546576 chr3:61546565-61546576 chr3:61546567-61546576 chr3:61546567-61546576
26	CEBPB	chr3:61550157-61550557	H1-hESC	embryonic stem cell:	n/a	n/a
27	CEBPB	chr3:61546198-61546825	HepG2	liver:	n/a	chr3:61546567-61546576 chr3:61546565-61546576 chr3:61546567-61546576 chr3:61546567-61546576
28	CEBPB	chr3:61546222-61546801	MCF-7	breast:	n/a	chr3:61546567-61546576 chr3:61546565-61546576 chr3:61546567-61546576 chr3:61546567-61546576
29	CEBPB	chr3:61546258-61546839	MCF-7	breast:	n/a	chr3:61546567-61546576 chr3:61546565-61546576 chr3:61546567-61546576 chr3:61546567-61546576
30	CEBPB	chr3:61546168-61546882	IMR90	lung:	n/a	chr3:61546567-61546576 chr3:61546565-61546576 chr3:61546567-61546576 chr3:61546567-61546576
31	CEBPB	chr3:61545993-61546957	HCT-116	colon:	n/a	chr3:61546132-61546143 chr3:61546567-61546576 chr3:61546132-61546143 chr3:61546565-61546576 chr3:61546567-61546576 chr3:61546567-61546576
32	CEBPB	chr3:61546190-61547179	ECC-1	luminal epithelium:	n/a	chr3:61546567-61546576 chr3:61546565-61546576 chr3:61546567-61546576 chr3:61546567-61546576
33	CEBPD	chr3:61546483-61546729	HepG2	liver:	n/a	chr3:61546567-61546576
34	CEBPD	chr3:61546294-61546882	HepG2	liver:	n/a	chr3:61546567-61546576
35	CEBPD	chr3:61546972-61547424	HepG2	liver:	n/a	n/a
36	CHD1	chr3:61546237-61546894	GM12878	blood:	n/a	n/a
37	CHD1	chr3:61545613-61550962	IMR90	lung:	n/a	chr3:61550522-61550532
38	CHD1	chr3:61546000-61548206	H1-hESC	embryonic stem cell:	n/a	n/a
39	CHD1	chr3:61548445-61549415	H1-hESC	embryonic stem cell:	n/a	n/a
40	CHD2	chr3:61550071-61550600	GM12878	blood:	n/a	chr3:61550522-61550532
41	CHD2	chr3:61546327-61547452	HepG2	liver:	n/a	n/a
42	CHD2	chr3:61550169-61550581	H1-hESC	embryonic stem cell:	n/a	chr3:61550522-61550532
43	CHD2	chr3:61548674-61548809	GM12878	blood:	n/a	n/a
44	CHD2	chr3:61546341-61547417	H1-hESC	embryonic stem cell:	n/a	n/a
45	CHD2	chr3:61548503-61549006	HepG2	liver:	n/a	n/a
46	CHD2	chr3:61546078-61547299	GM12878	blood:	n/a	n/a
47	CREB1	chr3:61550142-61550726	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTBP2	chr3:61549719-61550590	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTBP2	chr3:61546260-61547603	H1-hESC	embryonic stem cell:	n/a	n/a
50	CTCF	chr3:61546340-61546490	HMEC	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:61547524-61547574	BE2_C	brain:	n/a
2	chr3:61547211-61547261	HPAEpiC	pulmonary alveolar:	n/a
3	chr3:61547285-61547335	HUVEC	blood vessel:	n/a
4	chr3:61547524-61547574	BE2_C	brain:	n/a
5	chr3:61547211-61547261	HPAEpiC	pulmonary alveolar:	n/a
6	chr3:61547285-61547335	HUVEC	blood vessel:	n/a
7	chr3:61547196-61547246	HepG2	liver:	n/a
8	chr3:61547285-61547335	AG09309	skin:	n/a
9	chr3:61547196-61547246	NHBE	bronchial:	n/a
10	chr3:61550379-61550429	ECC-1	luminal epithelium:	n/a
11	chr3:61550379-61550429	HRE	kidney:	n/a
12	chr3:61548172-61548222	NB4	blood:	n/a
13	chr3:61547196-61547246	BE2_C	brain:	n/a
14	chr3:61547287-61547337	HUVEC	blood vessel:	n/a
15	chr3:61547287-61547337	NB4	blood:	n/a
16	chr3:61547130-61547180	HPAEpiC	pulmonary alveolar:	n/a
17	chr3:61547208-61547258	NHDF-neo	bronchial:	n/a
18	chr3:61547944-61547994	BE2_C	brain:	n/a
19	chr3:61547285-61547335	ECC-1	luminal epithelium:	n/a
20	chr3:61546526-61546576	HIPEpiC	eye:	n/a
21	chr3:61547944-61547994	HNPCEpiC	eye:	n/a
22	chr3:61547196-61547246	MCF-7	breast:	n/a
23	chr3:61547211-61547261	PANC-1	pancreas:	n/a
24	chr3:61547196-61547246	AG09319	gingival:	n/a
25	chr3:61547524-61547574	NHDF-neo	bronchial:	n/a
26	chr3:61547130-61547180	ProgFib	skin:	n/a
27	chr3:61547287-61547337	HRCEpiC	kidney:	n/a
28	chr3:61547944-61547994	H1-hESC	embryonic stem cell:	embryo
29	chr3:61547208-61547258	A549	lung:	n/a
30	chr3:61547104-61547154	PrEC	prostate:	n/a
31	chr3:61548332-61548382	GM19239	blood:	n/a
32	chr3:61547944-61547994	HepG2	liver:	n/a
33	chr3:61547104-61547154	Jurkat	blood:	n/a
34	chr3:61546526-61546576	HUVEC	blood vessel:	n/a
35	chr3:61547524-61547574	HCPEpiC	choroid plexus:	n/a
36	chr3:61547104-61547154	NT2-D1	testis:	n/a
37	chr3:61547208-61547258	U87	brain:	n/a
38	chr3:61546526-61546576	NT2-D1	testis:	n/a
39	chr3:61547130-61547180	BJ	skin:	n/a
40	chr3:61548172-61548222	HMEC	breast:	n/a
41	chr3:61547130-61547180	MCF-7	breast:	n/a
42	chr3:61550379-61550429	HMEC	breast:	n/a
43	chr3:61547285-61547335	AG09319	gingival:	n/a
44	chr3:61547130-61547180	Hepatocyte	liver:	n/a
45	chr3:61547211-61547261	NHBE	bronchial:	n/a
46	chr3:61547285-61547335	SAEC	small airway:	n/a
47	chr3:61547285-61547335	Caco-2	colon:	n/a
48	chr3:61547211-61547261	HCT-116	colon:	n/a
49	chr3:61547944-61547994	SKMC	muscle:	n/a
50	chr3:61547524-61547574	Jurkat	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:61538544..61540472-chr3:61544545..61547220,2	K562	blood:
2	chr3:61547884..61549685-chr3:61773585..61775750,2	MCF-7	breast:
3	chr1:234744695..234746368-chr3:61546699..61548508,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PTPRG-2	chr3:61547525-61548046	NONHSAT090170

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	PTPRG	hsa-miR-193b-3p	chr3:61547255-61547276

Variant related genes	Relation type
PTPRG	TF binding region
PTPRG	CpG island
ENSG00000168264	chromatin interactions

Extended variants
information (count: 194 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:194 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9840322	chr3:61546425-61546426	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs573266630	chr3:61546430-61546431	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs62243009	chr3:61546460-61546461	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs565297412	chr3:61546471-61546472	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs532375931	chr3:61546513-61546514	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
6	rs545327161	chr3:61546549-61546550	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
7	rs139082063	chr3:61546553-61546554	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
8	rs143095750	chr3:61546555-61546556	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
9	rs549199123	chr3:61546591-61546592	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs567400134	chr3:61546620-61546621	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs76702984	chr3:61546647-61546648	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs142960338	chr3:61546648-61546649	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs78409563	chr3:61546661-61546662	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs62243010	chr3:61546663-61546664	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs528202731	chr3:61546707-61546708	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs546348277	chr3:61546722-61546723	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs558606804	chr3:61546727-61546728	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs571223650	chr3:61546745-61546746	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs538213507	chr3:61546751-61546752	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs1574016	chr3:61546765-61546766	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs569204767	chr3:61546768-61546769	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs536475434	chr3:61546800-61546801	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs368528850	chr3:61546830-61546831	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs554727640	chr3:61546857-61546858	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs111922104	chr3:61546866-61546867	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs148539233	chr3:61546872-61546873	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs544169195	chr3:61546905-61546906	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs11130848	chr3:61546916-61546917	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs141925306	chr3:61546926-61546927	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs577178770	chr3:61546935-61546936	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs375438784	chr3:61546968-61546969	Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs563623681	chr3:61547065-61547066	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs575591698	chr3:61547088-61547089	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs542906602	chr3:61547092-61547093	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs561156134	chr3:61547097-61547098	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs528224864	chr3:61547124-61547125	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs546682125	chr3:61547145-61547146	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs75342462	chr3:61547164-61547165	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs532025133	chr3:61547192-61547193	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs73093079	chr3:61547274-61547275	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region miRNA target site	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs561295042	chr3:61547327-61547328	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs569243911	chr3:61547328-61547329	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs536564658	chr3:61547329-61547330	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs528676997	chr3:61547331-61547332	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs114544579	chr3:61547350-61547351	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs115840886	chr3:61547366-61547367	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs559051224	chr3:61547377-61547378	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs183961563	chr3:61547439-61547440	Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs538273138	chr3:61547473-61547474	Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs556585519	chr3:61547487-61547488	Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:91)

Disease	PMID	Source
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
Acute myeloid leukemia	20729466	CNVD
Glioblastoma multiforme	21080181	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Acute myeloid leukemia	21251322	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	16608533	CNVD
Prostate cancer	21965145	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	19490591	CNVD
Autism	18414403	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-small cell lung cancer	20864512	CNVD
Metastatic melanoma	17975146	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	21509527	CNVD
Myelofibrosis	22110671	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Myxofibrosarcoma	16751306	CNVD
Non-small cell lung cancer	21829676	CNVD
Urothelial cell carcinoma	18451213	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Colorectal cancer	16272173	CNVD
Mental retardation	17847001	CNVD
Neuroticism	17667963	CNVD
Squamous cell cancer	19047905	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Autism	22102821	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	20164919	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:393 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:61545000-61547800	Active TSS	Skeletal Muscle Female	skeletal muscle
2	chr3:61545000-61549600	Active TSS	NHEK	skin
3	chr3:61545000-61550800	Active TSS	Psoas Muscle	Psoas
4	chr3:61545200-61549400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr3:61545400-61546600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
6	chr3:61545400-61549000	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr3:61545400-61549600	Active TSS	Duodenum Mucosa	Duodenum
8	chr3:61545400-61550400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr3:61545400-61550800	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr3:61545400-61550800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr3:61545400-61550800	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr3:61545600-61547000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr3:61545600-61547000	Active TSS	Brain Hippocampus Middle	brain
14	chr3:61545600-61547800	Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr3:61545600-61548200	Active TSS	Fetal Brain Female	brain
16	chr3:61545600-61548400	Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr3:61545600-61548400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr3:61545600-61548400	Active TSS	Fetal Muscle Trunk	muscle
19	chr3:61545600-61548400	Active TSS	Placenta	Placenta
20	chr3:61545600-61548400	Active TSS	Skeletal Muscle Male	skeletal muscle
21	chr3:61545600-61549000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr3:61545600-61549000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr3:61545600-61549000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr3:61545600-61549000	Active TSS	Liver	Liver
25	chr3:61545600-61549200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr3:61545600-61549200	Active TSS	Fetal Lung	lung
27	chr3:61545600-61549400	Active TSS	H1 Cell Line	embryonic stem cell
28	chr3:61545600-61549400	Active TSS	Brain Angular Gyrus	brain
29	chr3:61545600-61549400	Active TSS	Fetal Brain Male	brain
30	chr3:61545600-61549600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
31	chr3:61545600-61549600	Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr3:61545600-61549800	Active TSS	HSMM	muscle
33	chr3:61545600-61550200	Active TSS	NHLF	lung
34	chr3:61545600-61550600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr3:61545600-61550600	Active TSS	Colon Smooth Muscle	Colon
36	chr3:61545600-61550600	Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr3:61545600-61550600	Active TSS	NHDF-Ad	bronchial
38	chr3:61545600-61550800	Active TSS	H9 Cell Line	embryonic stem cell
39	chr3:61545600-61550800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr3:61545600-61550800	Active TSS	Fetal Kidney	kidney
41	chr3:61545600-61550800	Active TSS	Left Ventricle	heart
42	chr3:61545600-61550800	Active TSS	HSMMtube	muscle
43	chr3:61545600-61551000	Active TSS	Aorta	Aorta
44	chr3:61545800-61546600	Active TSS	Adipose Nuclei	Adipose
45	chr3:61545800-61547000	Active TSS	Right Atrium	heart
46	chr3:61545800-61547400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr3:61545800-61547600	Active TSS	A549	lung
48	chr3:61545800-61547800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr3:61545800-61548000	Active TSS	Fetal Stomach	stomach
50	chr3:61545800-61548200	Active TSS	Brain Germinal Matrix	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links