Variant report

Variant	rs2303696
Chromosome Location	chr19:18548884-18548885
allele	A/G
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	POLR2A	chr19:18548740-18549851	HepG2	liver:	n/a	n/a
2	TAF1	chr19:18548643-18549168	K562	blood:	n/a	n/a
3	ETS1	chr19:18548365-18548977	K562	blood:	n/a	n/a
4	HEY1	chr19:18548686-18549373	HepG2	liver:	n/a	chr19:18549156-18549171
5	POLR2A	chr19:18548777-18548965	HepG2	liver:	n/a	n/a
6	POLR2A	chr19:18548542-18549592	ProgFib	skin:	n/a	n/a
7	POLR2A	chr19:18548817-18548969	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr19:18538551-18551124	K562	blood:	n/a	n/a
9	MAZ	chr19:18548768-18548922	GM12878	blood:	n/a	n/a
10	MAX	chr19:18548309-18549109	A549	lung:	n/a	chr19:18549025-18549035 chr19:18548349-18548359 chr19:18548398-18548408
11	SIN3AK20	chr19:18548528-18548984	H1-hESC	embryonic stem cell:	n/a	n/a
12	MAX	chr19:18547277-18548980	H1-hESC	embryonic stem cell:	n/a	chr19:18548349-18548359 chr19:18548398-18548408
13	MAX	chr19:18548849-18549319	K562	blood:	n/a	chr19:18549025-18549035
14	POLR2A	chr19:18544696-18549949	PFSK-1	brain:	n/a	n/a
15	ETS1	chr19:18548346-18549208	K562	blood:	n/a	chr19:18548347-18548358 chr19:18549104-18549114 chr19:18549103-18549112 chr19:18548982-18548993
16	POLR2A	chr19:18548523-18549250	A549	lung:	n/a	n/a
17	E2F6	chr19:18548304-18549079	H1-hESC	embryonic stem cell:	n/a	chr19:18549011-18549023 chr19:18548341-18548353 chr19:18548350-18548359 chr19:18548327-18548336 chr19:18548993-18549002 chr19:18548394-18548406
18	POLR2A	chr19:18548374-18549006	A549	lung:	n/a	n/a
19	POLR2A	chr19:18548783-18549007	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr19:18534926-18553479	K562	blood:	n/a	n/a
21	GTF3C2	chr19:18548857-18549720	K562	blood:	n/a	n/a
22	E2F6	chr19:18548342-18548889	A549	lung:	n/a	chr19:18548350-18548359 chr19:18548394-18548406
23	GABPA	chr19:18547746-18548973	K562	blood:	n/a	chr19:18548350-18548359 chr19:18548327-18548336 chr19:18548174-18548183
24	TAF1	chr19:18548349-18549011	ECC-1	luminal epithelium:	n/a	n/a
25	REST	chr19:18548328-18549320	H1-neurons	neurons:	n/a	chr19:18548876-18548889 chr19:18549248-18549261
26	PBX3	chr19:18547535-18549107	SK-N-SH	brain:	n/a	n/a
27	YY1	chr19:18548308-18549111	K562	blood:	n/a	chr19:18548327-18548336 chr19:18548347-18548356 chr19:18548931-18548945 chr19:18548985-18548996 chr19:18548993-18549002 chr19:18548391-18548402
28	POLR2A	chr19:18548585-18549032	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr19:18548339-18549661	GM12878	blood:	n/a	n/a
30	POLR2A	chr19:18548567-18549095	HUVEC	blood vessel:	n/a	n/a
31	UBTF	chr19:18548352-18549933	K562	blood:	n/a	n/a
32	POLR2A	chr19:18548311-18548992	GM12878	blood:	n/a	n/a
33	POLR2A	chr19:18547157-18552159	K562	blood:	n/a	n/a
34	POLR2A	chr19:18543626-18552057	K562	blood:	n/a	n/a
35	POLR2A	chr19:18548756-18548977	HepG2	liver:	n/a	n/a
36	STAT5A	chr19:18548334-18548889	K562	blood:	n/a	chr19:18548393-18548405
37	PML	chr19:18548334-18548994	GM12878	blood:	n/a	n/a
38	MYC	chr19:18547470-18549827	K562	blood:	n/a	chr19:18549025-18549035 chr19:18548349-18548359 chr19:18548398-18548408
39	E2F6	chr19:18548346-18549047	A549	lung:	n/a	chr19:18549011-18549023 chr19:18548350-18548359 chr19:18548993-18549002 chr19:18548394-18548406
40	MTA3	chr19:18548344-18550400	GM12878	blood:	n/a	n/a
41	IRF1	chr19:18548770-18549229	K562	blood:	n/a	chr19:18548989-18549003 chr19:18548978-18548992
42	MAX	chr19:18547452-18548884	K562	blood:	n/a	chr19:18548349-18548359 chr19:18548398-18548408
43	POLR2A	chr19:18548562-18549723	HUVEC	blood vessel:	n/a	n/a
44	POLR2A	chr19:18548402-18549678	K562	blood:	n/a	n/a
45	POLR2A	chr19:18548422-18549587	K562	blood:	n/a	n/a
46	E2F6	chr19:18548359-18549128	K562	blood:	n/a	chr19:18549011-18549023 chr19:18548993-18549002 chr19:18548394-18548406
47	POLR2A	chr19:18548454-18548992	Gliobla	brain:	n/a	n/a
48	POLR2A	chr19:18548697-18549100	SK-N-MC	brain:	n/a	n/a
49	TBP	chr19:18548444-18549076	K562	blood:	n/a	n/a
50	ZBTB7A	chr19:18548629-18550323	K562	blood:	n/a	chr19:18548801-18548809

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:18548845-18548895	IMR90	lung:	fetal
2	chr19:18548845-18548895	NHDF-neo	bronchial:	n/a
3	chr19:18548845-18548895	SK-N-MC	brain:	n/a
4	chr19:18548845-18548895	HEK293	kidney:	embryo
5	chr19:18548845-18548895	PrEC	prostate:	n/a
6	chr19:18548845-18548895	CMK	blood:	n/a
7	chr19:18548845-18548895	Jurkat	blood:	n/a
8	chr19:18548845-18548895	NHBE	bronchial:	n/a
9	chr19:18548845-18548895	NB4	blood:	n/a
10	chr19:18548845-18548895	GM12878	blood:	n/a
11	chr19:18548845-18548895	SK-N-SH	brain:	n/a
12	chr19:18548845-18548895	T-47D	breast:	n/a
13	chr19:18548845-18548895	HAEpiC	amniotic membrane:	n/a
14	chr19:18548845-18548895	HL-60	blood:	n/a
15	chr19:18548845-18548895	HUVEC	blood vessel:	n/a
16	chr19:18548845-18548895	SAEC	small airway:	n/a
17	chr19:18548845-18548895	HIPEpiC	eye:	n/a
18	chr19:18548845-18548895	MCF-7	breast:	n/a
19	chr19:18548845-18548895	HCT-116	colon:	n/a
20	chr19:18548845-18548895	AoSMC	blood vessel:	n/a
21	chr19:18548845-18548895	Caco-2	colon:	n/a
22	chr19:18548845-18548895	HCM	heart:	n/a
23	chr19:18548845-18548895	HRPEpiC	eye:	n/a
24	chr19:18548845-18548895	A549	lung:	n/a
25	chr19:18548845-18548895	NT2-D1	testis:	n/a
26	chr19:18548845-18548895	PANC-1	pancreas:	n/a
27	chr19:18548845-18548895	AG04450	lung:	fetal
28	chr19:18548845-18548895	HNPCEpiC	eye:	n/a
29	chr19:18548845-18548895	H1-hESC	embryonic stem cell:	embryo
30	chr19:18548845-18548895	NH-A	brain:	n/a
31	chr19:18548845-18548895	HPAEpiC	pulmonary alveolar:	n/a
32	chr19:18548845-18548895	BE2_C	brain:	n/a
33	chr19:18548845-18548895	AG10803	skin:	n/a
34	chr19:18548845-18548895	SKMC	muscle:	n/a
35	chr19:18548845-18548895	ovcar-3	ovarian:	n/a
36	chr19:18548845-18548895	HCPEpiC	choroid plexus:	n/a
37	chr19:18548845-18548895	GM06990	blood:	n/a
38	chr19:18548845-18548895	HRE	kidney:	n/a
39	chr19:18548845-18548895	BJ	skin:	n/a
40	chr19:18548845-18548895	GM19239	blood:	n/a
41	chr19:18548845-18548895	HRCEpiC	kidney:	n/a
42	chr19:18548845-18548895	ECC-1	luminal epithelium:	n/a
43	chr19:18548845-18548895	HMEC	breast:	n/a
44	chr19:18548845-18548895	Hepatocyte	liver:	n/a
45	chr19:18548845-18548895	HCF	heart:	n/a
46	chr19:18548845-18548895	GM12891	blood:	n/a
47	chr19:18548845-18548895	RPTEC	kidney:	n/a
48	chr19:18548845-18548895	U87	brain:	n/a
49	chr19:18548845-18548895	PFSK-1	brain:	n/a
50	chr19:18548845-18548895	HepG2	liver:	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:18391389..18392894-chr19:18547544..18549932,2	MCF-7	breast:
2	chr19:18546792..18548978-chr19:18667741..18669982,2	K562	blood:
3	chr19:18548448..18551673-chr19:18681148..18684161,3	K562	blood:
4	chr19:18314746..18317215-chr19:18546753..18549806,3	K562	blood:
5	chr19:18302931..18304464-chr19:18547111..18549483,2	K562	blood:
6	chr19:18534646..18537206-chr19:18547129..18549034,2	MCF-7	breast:
7	chr19:18546771..18549506-chr19:18943551..18946783,3	K562	blood:
8	chr19:18388807..18393519-chr19:18545945..18551144,10	K562	blood:
9	chr19:18495466..18501669-chr19:18543275..18549976,8	K562	blood:
10	chr19:18548281..18548923-chr3:134204312..134205255,2	HCT-116	colon:
11	chr19:18546603..18548898-chr19:18631485..18634393,2	MCF-7	breast:
12	chr19:18495538..18497928-chr19:18546871..18549099,2	MCF-7	breast:
13	chr19:18388462..18393408-chr19:18545945..18551144,14	K562	blood:
14	chr19:18526882..18530762-chr19:18548138..18550714,4	MCF-7	breast:
15	chr19:18547378..18549702-chr19:18699788..18702900,3	K562	blood:
16	chr19:18451193..18453522-chr19:18547468..18550080,2	K562	blood:
17	chr19:18547268..18549412-chr19:18631404..18632910,2	K562	blood:

Variant related genes	Relation type
ISYNA1	TF binding region
ENSG00000268199	TF binding region
ISYNA1	CpG island
ENSG00000268199	CpG island
ENSG00000254858	Chromatin interaction
ENSG00000006015	Chromatin interaction
ENSG00000221983	Chromatin interaction
ENSG00000182923	Chromatin interaction
ENSG00000130517	Chromatin interaction
ENSG00000005007	Chromatin interaction
ENSG00000130511	Chromatin interaction
ENSG00000105649	Chromatin interaction
ENSG00000130522	Chromatin interaction
ENSG00000105700	Chromatin interaction
ENSG00000268650	Chromatin interaction
ENSG00000105656	Chromatin interaction
ENSG00000267959	Chromatin interaction
ENSG00000129055	Chromatin interaction
ENSG00000264175	Chromatin interaction
ENSG00000130513	Chromatin interaction

Extended variants
information (count: 85 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:70)

rs_ID	r²[population]
rs10164319	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10403249	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10405479	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs10405636	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10408290	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10409003	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10409483	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10409505	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10411009	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10413237	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10419404	0.81[ASN][1000 genomes]
rs10425982	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10427083	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1043327	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10442	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11673604	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1560118	0.92[ASN][1000 genomes]
rs1560119	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1806980	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2007981	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs2288428	0.91[ASN][1000 genomes]
rs2303695	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2303697	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2385088	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2385089	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs271621	0.81[EUR][1000 genomes]
rs271622	0.80[EUR][1000 genomes]
rs271623	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs271624	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs271626	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs271628	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs271629	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28572537	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34010330	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34053595	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34171762	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34256197	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34509804	0.80[ASN][1000 genomes]
rs34746918	0.92[ASN][1000 genomes]
rs3810429	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4595905	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4808133	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4808134	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4808136	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4808801	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4808804	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7249020	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7251653	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7252707	0.86[ASN][1000 genomes]
rs7252848	0.86[ASN][1000 genomes]
rs7253990	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7254249	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7256534	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7257932	0.86[ASN][1000 genomes]
rs7258465	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs748609	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs76194	0.81[EUR][1000 genomes]
rs76195	0.81[EUR][1000 genomes]
rs8100767	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8103622	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs8103660	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8105994	0.88[ASN][1000 genomes]
rs8106096	0.93[ASN][1000 genomes]
rs8107347	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8107351	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8107367	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs8107743	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8109573	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8111708	0.92[ASN][1000 genomes]
rs875396	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532614	chr19:18033043-18573963	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	204 gene(s)	inside rSNPs	diseases
2	esv3323899	chr19:18343484-18620429	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	162 gene(s)	inside rSNPs	diseases
3	nsv911274	chr19:18440942-18691942	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
4	nsv1057795	chr19:18453362-18883844	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
5	nsv543925	chr19:18453362-18883844	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
6	nsv428018	chr19:18454891-18663981	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
7	nsv911275	chr19:18484922-18586759	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
8	nsv911276	chr19:18497141-18554972	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
9	nsv911277	chr19:18520231-18552139	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
10	nsv1060687	chr19:18522527-18643218	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
11	nsv911278	chr19:18526536-18550276	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	39 gene(s)	inside rSNPs	diseases
12	nsv911279	chr19:18533642-18550276	Flanking Active TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases
13	nsv911280	chr19:18533642-18552139	Genic enhancers Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
14	nsv532615	chr19:18534867-18796031	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
15	nsv482217	chr19:18545625-18548943	Transcr. at gene 5' and 3' Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2303696	SSBP4	cis	Esophagus Mucosa	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18545200-18570000	Weak transcription	Small Intestine	intestine
2	chr19:18547200-18549400	Active TSS	iPS-18 Cell Line	embryonic stem cell
3	chr19:18547200-18549600	Enhancers	Fetal Brain Male	brain
4	chr19:18547400-18549000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr19:18547400-18549000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr19:18547400-18549200	Active TSS	H9 Cell Line	embryonic stem cell
7	chr19:18547400-18549200	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr19:18547400-18549200	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr19:18547400-18549200	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr19:18547400-18549200	Active TSS	Fetal Brain Female	brain
11	chr19:18547400-18549400	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr19:18547400-18549400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
13	chr19:18547400-18549400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
14	chr19:18547400-18549600	Flanking Active TSS	Fetal Muscle Leg	muscle
15	chr19:18547400-18549800	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr19:18547400-18549800	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr19:18547400-18549800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr19:18547600-18549000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr19:18547600-18549000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr19:18547600-18549000	Active TSS	HepG2	liver
21	chr19:18547600-18549200	Active TSS	H1 Cell Line	embryonic stem cell
22	chr19:18547600-18549200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr19:18547600-18549200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr19:18547600-18549200	Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr19:18547600-18549200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr19:18547600-18549200	Active TSS	Rectal Smooth Muscle	rectum
27	chr19:18547600-18549200	Active TSS	A549	lung
28	chr19:18547600-18549200	Active TSS	K562	blood
29	chr19:18547600-18549400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
30	chr19:18547600-18549400	Transcr. at gene 5' and 3'	Right Atrium	heart
31	chr19:18547600-18550000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr19:18547800-18549000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
33	chr19:18547800-18549000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr19:18547800-18549000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr19:18547800-18549000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
36	chr19:18547800-18549000	Active TSS	Primary T helper naive cells from peripheral blood	blood
37	chr19:18547800-18549000	Active TSS	Colon Smooth Muscle	Colon
38	chr19:18547800-18549000	Active TSS	Duodenum Smooth Muscle	Duodenum
39	chr19:18547800-18549000	Active TSS	Fetal Intestine Small	intestine
40	chr19:18547800-18549200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
41	chr19:18547800-18549200	Active TSS	Brain Anterior Caudate	brain
42	chr19:18547800-18549200	Active TSS	Fetal Lung	lung
43	chr19:18547800-18549400	Active TSS	Aorta	Aorta
44	chr19:18547800-18549400	Active TSS	Pancreatic Islets	Pancreatic Islet
45	chr19:18548000-18549000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr19:18548000-18549000	Weak transcription	Fetal Heart	heart
47	chr19:18548000-18549200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr19:18548000-18549200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr19:18548000-18549200	Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr19:18548000-18549200	Active TSS	Primary T helper cells PMA-I stimulated	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links