Variant report

Variant	rs72674712
Chromosome Location	chr8:113351439-113351440
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:113351404-113351456	ProgFib	skin:	n/a	n/a
2	NFYB	chr8:113351332-113351606	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr8:113351420-113351470	AoSMC	blood vessel:	n/a
2	chr8:113351420-113351470	HIPEpiC	eye:	n/a
3	chr8:113351420-113351470	AG09309	skin:	n/a
4	chr8:113351420-113351470	GM19239	blood:	n/a
5	chr8:113351420-113351470	NHDF-neo	bronchial:	n/a
6	chr8:113351420-113351470	HepG2	liver:	n/a
7	chr8:113351420-113351470	PANC-1	pancreas:	n/a
8	chr8:113351420-113351470	HUVEC	blood vessel:	n/a
9	chr8:113351420-113351470	Hela-S3	cervix:	n/a
10	chr8:113351420-113351470	HCF	heart:	n/a
11	chr8:113351420-113351470	SKMC	muscle:	n/a
12	chr8:113351420-113351470	HCT-116	colon:	n/a
13	chr8:113351420-113351470	HL-60	blood:	n/a
14	chr8:113351420-113351470	NB4	blood:	n/a
15	chr8:113351420-113351470	AG09319	gingival:	n/a
16	chr8:113351420-113351470	HCM	heart:	n/a
17	chr8:113351420-113351470	U87	brain:	n/a
18	chr8:113351420-113351470	BE2_C	brain:	n/a
19	chr8:113351420-113351470	ovcar-3	ovarian:	n/a
20	chr8:113351420-113351470	T-47D	breast:	n/a
21	chr8:113351420-113351470	Jurkat	blood:	n/a
22	chr8:113351420-113351470	HCPEpiC	choroid plexus:	n/a
23	chr8:113351420-113351470	HRE	kidney:	n/a
24	chr8:113351420-113351470	GM06990	blood:	n/a
25	chr8:113351420-113351470	HNPCEpiC	eye:	n/a
26	chr8:113351420-113351470	GM12891	blood:	n/a
27	chr8:113351420-113351470	RPTEC	kidney:	n/a
28	chr8:113351420-113351470	NT2-D1	testis:	n/a
29	chr8:113351420-113351470	K562	blood:	n/a
30	chr8:113351420-113351470	LNCaP	prostate:	n/a
31	chr8:113351420-113351470	HEK293	kidney:	embryo
32	chr8:113351420-113351470	Caco-2	colon:	n/a
33	chr8:113351420-113351470	AG04450	lung:	fetal
34	chr8:113351420-113351470	MCF-7	breast:	n/a
35	chr8:113351420-113351470	GM12878	blood:	n/a
36	chr8:113351420-113351470	H1-hESC	embryonic stem cell:	embryo
37	chr8:113351420-113351470	BJ	skin:	n/a
38	chr8:113351420-113351470	GM12892	blood:	n/a
39	chr8:113351420-113351470	ECC-1	luminal epithelium:	n/a
40	chr8:113351420-113351470	SK-N-SH	brain:	n/a
41	chr8:113351420-113351470	HRPEpiC	eye:	n/a
42	chr8:113351420-113351470	PFSK-1	brain:	n/a
43	chr8:113351420-113351470	HAEpiC	amniotic membrane:	n/a
44	chr8:113351420-113351470	SK-N-MC	brain:	n/a
45	chr8:113351420-113351470	SAEC	small airway:	n/a
46	chr8:113351420-113351470	ProgFib	skin:	n/a
47	chr8:113351420-113351470	MCF10A-Er-Src	breast:	n/a
48	chr8:113351420-113351470	IMR90	lung:	fetal
49	chr8:113351420-113351470	HEEpiC	esophagus:	n/a
50	chr8:113351420-113351470	NHBE	bronchial:	n/a

No data

Variant related genes	Relation type
CSMD3	TF binding region
CSMD3	CpG island

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10505178	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10505180	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10505181	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10505182	0.84[ASN][1000 genomes]
rs10505183	0.84[ASN][1000 genomes]
rs12675203	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12675392	0.84[ASN][1000 genomes]
rs12676450	0.84[ASN][1000 genomes]
rs12677528	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12678444	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12680127	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12680536	0.84[ASN][1000 genomes]
rs1388964	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17554221	0.84[ASN][1000 genomes]
rs17555344	0.88[ASN][1000 genomes]
rs17556896	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17630545	0.84[ASN][1000 genomes]
rs17637578	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17637608	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs17638567	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17640016	0.85[EUR][1000 genomes]
rs4540432	0.84[ASN][1000 genomes]
rs4876285	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4876286	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4876463	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4876466	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4876471	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs5020695	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55657628	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55868089	0.84[ASN][1000 genomes]
rs55962846	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55964861	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56148035	0.84[ASN][1000 genomes]
rs56180460	0.84[ASN][1000 genomes]
rs56298658	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56333610	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs56367843	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59341078	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59994716	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60128946	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60533422	0.84[ASN][1000 genomes]
rs61078986	0.84[ASN][1000 genomes]
rs61189440	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62514381	0.84[ASN][1000 genomes]
rs62514390	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62514391	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62514398	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62514406	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62514407	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62514408	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62514409	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62514420	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62514422	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62514423	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7011864	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72672840	0.84[ASN][1000 genomes]
rs72672881	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72674718	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72674724	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533857	chr8:112819659-113801258	Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1022457	chr8:113071774-113811177	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
3	esv2755868	chr8:113282795-113634842	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv2753595	chr8:113283214-114190390	Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
5	esv2754232	chr8:113294967-113634842	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:113350000-113355600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr8:113350000-113378600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:113351200-113351600	Enhancers	Fetal Intestine Small	intestine

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