Variant report

Variant	rs274167
Chromosome Location	chr19:56686756-56686757
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	USF1	chr19:56686686-56686821	HepG2	liver:	n/a	chr19:56686733-56686744

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:56686707-56686757	MCF-7	breast:	n/a
2	chr19:56686707-56686757	SK-N-MC	brain:	n/a
3	chr19:56686707-56686757	HCM	heart:	n/a
4	chr19:56686707-56686757	BE2_C	brain:	n/a
5	chr19:56686707-56686757	A549	lung:	n/a
6	chr19:56686707-56686757	IMR90	lung:	fetal
7	chr19:56686707-56686757	HMEC	breast:	n/a
8	chr19:56686707-56686757	AG09309	skin:	n/a
9	chr19:56686707-56686757	NHDF-neo	bronchial:	n/a
10	chr19:56686707-56686757	T-47D	breast:	n/a
11	chr19:56686707-56686757	PFSK-1	brain:	n/a
12	chr19:56686707-56686757	AoSMC	blood vessel:	n/a
13	chr19:56686707-56686757	GM06990	blood:	n/a
14	chr19:56686707-56686757	HNPCEpiC	eye:	n/a
15	chr19:56686707-56686757	U87	brain:	n/a
16	chr19:56686707-56686757	NT2-D1	testis:	n/a
17	chr19:56686707-56686757	GM12878	blood:	n/a
18	chr19:56686707-56686757	K562	blood:	n/a
19	chr19:56686707-56686757	HIPEpiC	eye:	n/a
20	chr19:56686707-56686757	AG09319	gingival:	n/a
21	chr19:56686707-56686757	HCT-116	colon:	n/a
22	chr19:56686707-56686757	CMK	blood:	n/a
23	chr19:56686707-56686757	SK-N-SH_RA	brain:	n/a
24	chr19:56686707-56686757	GM12891	blood:	n/a
25	chr19:56686707-56686757	PANC-1	pancreas:	n/a
26	chr19:56686707-56686757	GM12892	blood:	n/a
27	chr19:56686707-56686757	HCPEpiC	choroid plexus:	n/a
28	chr19:56686707-56686757	HRE	kidney:	n/a
29	chr19:56686707-56686757	GM19239	blood:	n/a
30	chr19:56686707-56686757	HL-60	blood:	n/a
31	chr19:56686707-56686757	HEEpiC	esophagus:	n/a
32	chr19:56686707-56686757	Hepatocyte	liver:	n/a
33	chr19:56686707-56686757	LNCaP	prostate:	n/a
34	chr19:56686707-56686757	ProgFib	skin:	n/a
35	chr19:56686707-56686757	Caco-2	colon:	n/a
36	chr19:56686707-56686757	HEK293	kidney:	embryo
37	chr19:56686707-56686757	NHBE	bronchial:	n/a
38	chr19:56686707-56686757	MCF10A-Er-Src	breast:	n/a
39	chr19:56686707-56686757	HRCEpiC	kidney:	n/a
40	chr19:56686707-56686757	HCF	heart:	n/a
41	chr19:56686707-56686757	AG10803	skin:	n/a
42	chr19:56686707-56686757	HAEpiC	amniotic membrane:	n/a
43	chr19:56686707-56686757	HRPEpiC	eye:	n/a
44	chr19:56686707-56686757	Hela-S3	cervix:	n/a
45	chr19:56686707-56686757	NB4	blood:	n/a
46	chr19:56686707-56686757	AG04449	skin:	fetal
47	chr19:56686707-56686757	Jurkat	blood:	n/a
48	chr19:56686707-56686757	ovcar-3	ovarian:	n/a
49	chr19:56686707-56686757	HPAEpiC	pulmonary alveolar:	n/a
50	chr19:56686707-56686757	ECC-1	luminal epithelium:	n/a

No data

Variant related genes	Relation type
GALP	TF binding region
GALP	CpG island

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs2631642	0.83[EUR][1000 genomes]
rs2631652	0.89[EUR][1000 genomes]
rs274141	0.87[EUR][1000 genomes]
rs274144	0.87[EUR][1000 genomes]
rs274145	0.87[EUR][1000 genomes]
rs274146	0.84[EUR][1000 genomes]
rs274151	0.83[EUR][1000 genomes]
rs274154	0.83[EUR][1000 genomes]
rs274156	0.93[EUR][1000 genomes]
rs274159	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs274163	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs274164	0.81[EUR][1000 genomes]
rs274165	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs274168	0.92[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs274169	0.93[ASN][1000 genomes]
rs3103059	0.87[EUR][1000 genomes]
rs3103060	0.87[EUR][1000 genomes]
rs480528	0.89[EUR][1000 genomes]
rs481291	0.89[EUR][1000 genomes]
rs487922	0.87[EUR][1000 genomes]
rs488196	0.87[EUR][1000 genomes]
rs565171	0.89[EUR][1000 genomes]
rs581486	0.83[EUR][1000 genomes]
rs61283021	0.89[EUR][1000 genomes]
rs650832	0.87[EUR][1000 genomes]
rs652204	0.88[EUR][1000 genomes]
rs671061	0.89[EUR][1000 genomes]
rs679082	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1056598	chr19:56331762-56703428	Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
2	nsv1064371	chr19:56418215-56842450	ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
3	nsv1057316	chr19:56418215-56849458	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
4	nsv580354	chr19:56505685-56723492	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
5	nsv523651	chr19:56537528-56707048	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
6	nsv1057820	chr19:56555942-56720262	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
7	nsv528998	chr19:56578238-56707048	Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
8	nsv521744	chr19:56592286-56686953	Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
9	nsv912516	chr19:56601298-56981382	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	93 gene(s)	inside rSNPs	diseases
10	nsv528361	chr19:56638845-56688570	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
11	esv3319234	chr19:56686205-56689036	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	esv3319235	chr19:56686205-56689036	Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	esv20520	chr19:56686719-56688658	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56673000-56690000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr19:56682000-56687000	Weak transcription	Spleen	Spleen
3	chr19:56685400-56687200	Enhancers	K562	blood
4	chr19:56685600-56687400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
5	chr19:56685600-56687600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr19:56685600-56688600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr19:56685800-56686800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr19:56685800-56688000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr19:56686400-56687000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr19:56686400-56687200	Bivalent Enhancer	HepG2	liver
11	chr19:56686600-56688200	Enhancers	Liver	Liver
12	chr19:56686600-56688400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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