Variant report

Variant	rs10259618
Chromosome Location	chr7:27289855-27289856
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SUZ12	chr7:27288749-27293090	NT2-D1	testis:	n/a	n/a
2	SUZ12	chr7:27287695-27290307	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr7:27289817-27292504	H1-neurons	neurons:	n/a	n/a
4	POLR2A	chr7:27289692-27292600	H1-neurons	neurons:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:27289829-27289879	HCM	heart:	n/a
2	chr7:27289829-27289879	Hepatocyte	liver:	n/a
3	chr7:27289829-27289879	RPTEC	kidney:	n/a
4	chr7:27289829-27289879	AG09319	gingival:	n/a
5	chr7:27289829-27289879	BE2_C	brain:	n/a
6	chr7:27289829-27289879	GM19239	blood:	n/a
7	chr7:27289829-27289879	MCF10A-Er-Src	breast:	n/a
8	chr7:27289829-27289879	GM06990	blood:	n/a
9	chr7:27289829-27289879	H1-hESC	embryonic stem cell:	embryo
10	chr7:27289829-27289879	SK-N-MC	brain:	n/a
11	chr7:27289829-27289879	AoSMC	blood vessel:	n/a
12	chr7:27289829-27289879	HAEpiC	amniotic membrane:	n/a
13	chr7:27289829-27289879	NHDF-neo	bronchial:	n/a
14	chr7:27289829-27289879	SKMC	muscle:	n/a
15	chr7:27289829-27289879	AG09309	skin:	n/a
16	chr7:27289829-27289879	HPAEpiC	pulmonary alveolar:	n/a
17	chr7:27289829-27289879	Caco-2	colon:	n/a
18	chr7:27289829-27289879	HepG2	liver:	n/a
19	chr7:27289829-27289879	K562	blood:	n/a
20	chr7:27289829-27289879	NT2-D1	testis:	n/a
21	chr7:27289829-27289879	HEEpiC	esophagus:	n/a
22	chr7:27289829-27289879	GM12892	blood:	n/a
23	chr7:27289829-27289879	HRCEpiC	kidney:	n/a
24	chr7:27289829-27289879	IMR90	lung:	fetal
25	chr7:27289829-27289879	NH-A	brain:	n/a
26	chr7:27289829-27289879	NB4	blood:	n/a
27	chr7:27289829-27289879	U87	brain:	n/a
28	chr7:27289829-27289879	MCF-7	breast:	n/a
29	chr7:27289829-27289879	NHBE	bronchial:	n/a
30	chr7:27289829-27289879	SAEC	small airway:	n/a
31	chr7:27289829-27289879	AG04450	lung:	fetal
32	chr7:27289829-27289879	HMEC	breast:	n/a
33	chr7:27289829-27289879	SK-N-SH_RA	brain:	n/a
34	chr7:27289829-27289879	GM12891	blood:	n/a
35	chr7:27289829-27289879	HNPCEpiC	eye:	n/a
36	chr7:27289829-27289879	HCF	heart:	n/a
37	chr7:27289829-27289879	HRPEpiC	eye:	n/a
38	chr7:27289829-27289879	ECC-1	luminal epithelium:	n/a
39	chr7:27289829-27289879	HCPEpiC	choroid plexus:	n/a
40	chr7:27289829-27289879	PANC-1	pancreas:	n/a
41	chr7:27289829-27289879	LNCaP	prostate:	n/a
42	chr7:27289829-27289879	HUVEC	blood vessel:	n/a
43	chr7:27289829-27289879	HRE	kidney:	n/a
44	chr7:27289829-27289879	Hela-S3	cervix:	n/a
45	chr7:27289829-27289879	PrEC	prostate:	n/a
46	chr7:27289829-27289879	Jurkat	blood:	n/a
47	chr7:27289829-27289879	AG10803	skin:	n/a
48	chr7:27289829-27289879	HEK293	kidney:	embryo
49	chr7:27289829-27289879	A549	lung:	n/a
50	chr7:27289829-27289879	AG04449	skin:	fetal

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:27288720..27291227-chr7:27295247..27298125,2	K562	blood:
2	chr7:27287489..27291227-chr7:27295205..27298125,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EVX1-1	chr7:27289767-27290112	ENSG00000253324

No data

Variant related genes	Relation type
EVX1-AS	TF binding region
EVX1-AS	CpG island

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs17472927	0.82[AFR][1000 genomes]
rs28361569	1.00[AMR][1000 genomes]
rs28361570	1.00[AMR][1000 genomes]
rs28361571	1.00[AMR][1000 genomes]
rs28361572	1.00[AMR][1000 genomes]
rs28361573	1.00[AMR][1000 genomes]
rs28361574	1.00[AMR][1000 genomes]
rs28361575	1.00[AMR][1000 genomes]
rs28361578	1.00[AMR][1000 genomes]
rs28361580	1.00[AMR][1000 genomes]
rs28398560	1.00[AMR][1000 genomes]
rs6945712	1.00[AMR][1000 genomes]
rs6945853	1.00[AMR][1000 genomes]
rs73283955	1.00[AMR][1000 genomes]
rs73283957	1.00[AMR][1000 genomes]
rs73283965	1.00[AMR][1000 genomes]
rs73283968	1.00[AMR][1000 genomes]
rs73283969	1.00[AMR][1000 genomes]
rs73283972	1.00[AMR][1000 genomes]
rs73283978	1.00[AMR][1000 genomes]
rs73283985	1.00[AMR][1000 genomes]
rs73290334	1.00[AMR][1000 genomes]
rs7784618	1.00[AMR][1000 genomes]
rs7784783	1.00[AMR][1000 genomes]
rs7784973	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025538	chr7:26482342-27376045	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
2	nsv538805	chr7:26482342-27376045	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
3	nsv887856	chr7:27073731-27297791	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	183 gene(s)	inside rSNPs	diseases
4	nsv824039	chr7:27121825-27294951	Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	183 gene(s)	inside rSNPs	diseases
5	nsv824040	chr7:27121870-27295010	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	183 gene(s)	inside rSNPs	diseases
6	nsv824041	chr7:27128039-27294951	Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	183 gene(s)	inside rSNPs	diseases
7	nsv887869	chr7:27135314-27297791	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
8	nsv1020608	chr7:27139892-27324004	Bivalent Enhancer Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
9	nsv538807	chr7:27139892-27324004	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
10	nsv532118	chr7:27146920-27354205	Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
11	nsv887879	chr7:27175295-27297791	Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	151 gene(s)	inside rSNPs	diseases
12	esv1798853	chr7:27181568-27309266	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	150 gene(s)	inside rSNPs	diseases
13	nsv531024	chr7:27194426-27461954	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
14	nsv887880	chr7:27205282-27294701	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
15	nsv887881	chr7:27205282-27297791	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
16	nsv887884	chr7:27206688-27297791	Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	130 gene(s)	inside rSNPs	diseases
17	nsv887886	chr7:27215041-27297791	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
18	nsv887889	chr7:27220831-27297791	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
19	nsv887892	chr7:27223563-27297791	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
20	nsv519583	chr7:27243962-27298264	Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27283600-27293600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr7:27286000-27291200	Weak transcription	Gastric	stomach
3	chr7:27286200-27291000	Weak transcription	Right Atrium	heart
4	chr7:27286200-27291200	Weak transcription	Pancreas	Pancrea
5	chr7:27288400-27292200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
6	chr7:27289000-27290000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
7	chr7:27289000-27290800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
8	chr7:27289000-27291000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr7:27289000-27292000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr7:27289800-27290000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
11	chr7:27289800-27290000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
12	chr7:27289800-27290000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr7:27289800-27290000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
14	chr7:27289800-27290000	Bivalent Enhancer	Left Ventricle	heart
15	chr7:27289800-27290800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell

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