Variant report

Variant	rs4388466
Chromosome Location	chr8:48115012-48115013
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	CTCF	chr8:48114920-48115070	Caco-2	colon:	n/a	chr8:48114977-48114995 chr8:48114980-48114993 chr8:48114979-48115000 chr8:48114978-48114994
2	CTCF	chr8:48114856-48115079	GM20000	blood:	n/a	chr8:48114977-48114995 chr8:48114980-48114993 chr8:48114979-48115000 chr8:48114978-48114994
3	RAD21	chr8:48114756-48115255	MCF-7	breast:	n/a	chr8:48114978-48114997 chr8:48114983-48114995
4	CTCF	chr8:48114920-48115070	NB4	blood:	n/a	chr8:48114977-48114995 chr8:48114980-48114993 chr8:48114979-48115000 chr8:48114978-48114994
5	ZKSCAN1	chr8:48114947-48115076	Hela-S3	cervix:	n/a	n/a
6	CTCF	chr8:48114920-48115070	RPTEC	kidney:	n/a	chr8:48114977-48114995 chr8:48114980-48114993 chr8:48114979-48115000 chr8:48114978-48114994
7	CTCF	chr8:48114880-48115030	GM12872	blood:	n/a	chr8:48114977-48114995 chr8:48114980-48114993 chr8:48114979-48115000 chr8:48114978-48114994
8	RAD21	chr8:48114750-48115194	SK-N-SH_RA	brain:	n/a	chr8:48114978-48114997 chr8:48114983-48114995
9	CTCF	chr8:48114920-48115070	GM12878	blood:	n/a	chr8:48114977-48114995 chr8:48114980-48114993 chr8:48114979-48115000 chr8:48114978-48114994
10	CTCF	chr8:48114920-48115070	SAEC	small airway:	n/a	chr8:48114977-48114995 chr8:48114980-48114993 chr8:48114979-48115000 chr8:48114978-48114994
11	CTCF	chr8:48114940-48115090	HUVEC	blood vessel:	n/a	chr8:48114977-48114995 chr8:48114980-48114993 chr8:48114979-48115000 chr8:48114978-48114994
12	CTCF	chr8:48114863-48115093	Lung_OC	lung:	n/a	chr8:48114977-48114995 chr8:48114980-48114993 chr8:48114979-48115000 chr8:48114978-48114994
13	CTCF	chr8:48114900-48115050	HRE	kidney:	n/a	chr8:48114977-48114995 chr8:48114980-48114993 chr8:48114979-48115000 chr8:48114978-48114994
14	CTCF	chr8:48114869-48115149	MCF-7	breast:	n/a	chr8:48114977-48114995 chr8:48114980-48114993 chr8:48114979-48115000 chr8:48114978-48114994
15	CTCF	chr8:48114900-48115050	GM12868	blood:	n/a	chr8:48114977-48114995 chr8:48114980-48114993 chr8:48114979-48115000 chr8:48114978-48114994
16	CTCF	chr8:48114823-48115138	MCF-7	breast:	n/a	chr8:48114977-48114995 chr8:48114980-48114993 chr8:48114979-48115000 chr8:48114978-48114994
17	CTCF	chr8:48114900-48115050	NHLF	lung:	n/a	chr8:48114977-48114995 chr8:48114980-48114993 chr8:48114979-48115000 chr8:48114978-48114994
18	CTCF	chr8:48114900-48115050	HepG2	liver:	n/a	chr8:48114977-48114995 chr8:48114980-48114993 chr8:48114979-48115000 chr8:48114978-48114994
19	SMC3	chr8:48114804-48115184	GM12878	blood:	n/a	chr8:48114979-48114993
20	CTCF	chr8:48114900-48115050	GM12873	blood:	n/a	chr8:48114977-48114995 chr8:48114980-48114993 chr8:48114979-48115000 chr8:48114978-48114994
21	CTCF	chr8:48114900-48115050	HBMEC	blood vessel:	n/a	chr8:48114977-48114995 chr8:48114980-48114993 chr8:48114979-48115000 chr8:48114978-48114994
22	ZNF143	chr8:48114797-48115170	GM12878	blood:	n/a	n/a
23	CTCF	chr8:48114858-48115195	T-47D	breast:	n/a	chr8:48114977-48114995 chr8:48114980-48114993 chr8:48114979-48115000 chr8:48114978-48114994
24	CTCF	chr8:48114900-48115050	SAEC	small airway:	n/a	chr8:48114977-48114995 chr8:48114980-48114993 chr8:48114979-48115000 chr8:48114978-48114994
25	CTCF	chr8:48114852-48115091	HepG2	liver:	n/a	chr8:48114977-48114995 chr8:48114980-48114993 chr8:48114979-48115000 chr8:48114978-48114994
26	YY1	chr8:48114908-48115108	GM12878	blood:	n/a	n/a
27	SMC3	chr8:48114797-48115172	HepG2	liver:	n/a	chr8:48114979-48114993
28	CTCF	chr8:48114808-48115088	GM10248	blood:	n/a	chr8:48114977-48114995 chr8:48114980-48114993 chr8:48114979-48115000 chr8:48114978-48114994
29	RAD21	chr8:48114828-48115171	K562	blood:	n/a	chr8:48114978-48114997 chr8:48114983-48114995
30	CTCF	chr8:48114900-48115050	Hela-S3	cervix:	n/a	chr8:48114977-48114995 chr8:48114980-48114993 chr8:48114979-48115000 chr8:48114978-48114994
31	CTCF	chr8:48114880-48115030	HAc	cerebellar:	n/a	chr8:48114977-48114995 chr8:48114980-48114993 chr8:48114979-48115000 chr8:48114978-48114994
32	CTCF	chr8:48114920-48115070	HMEC	breast:	n/a	chr8:48114977-48114995 chr8:48114980-48114993 chr8:48114979-48115000 chr8:48114978-48114994
33	CTCF	chr8:48114900-48115050	K562	blood:	n/a	chr8:48114977-48114995 chr8:48114980-48114993 chr8:48114979-48115000 chr8:48114978-48114994
34	CTCF	chr8:48114856-48115120	LNCaP	prostate:	n/a	chr8:48114977-48114995 chr8:48114980-48114993 chr8:48114979-48115000 chr8:48114978-48114994
35	CTCF	chr8:48114920-48115070	AG09319	gingival:	n/a	chr8:48114977-48114995 chr8:48114980-48114993 chr8:48114979-48115000 chr8:48114978-48114994
36	CTCF	chr8:48114920-48115070	GM12864	blood:	n/a	chr8:48114977-48114995 chr8:48114980-48114993 chr8:48114979-48115000 chr8:48114978-48114994
37	CTCF	chr8:48114900-48115050	GM12875	blood:	n/a	chr8:48114977-48114995 chr8:48114980-48114993 chr8:48114979-48115000 chr8:48114978-48114994
38	CTCF	chr8:48114900-48115050	HA-sp	spinal cord:	n/a	chr8:48114977-48114995 chr8:48114980-48114993 chr8:48114979-48115000 chr8:48114978-48114994
39	ZNF143	chr8:48114867-48115167	H1-hESC	embryonic stem cell:	n/a	n/a
40	CTCF	chr8:48114698-48115304	MCF-7	breast:	n/a	chr8:48114977-48114995 chr8:48114980-48114993 chr8:48114979-48115000 chr8:48114978-48114994
41	CTCF	chr8:48114880-48115030	HepG2	liver:	n/a	chr8:48114977-48114995 chr8:48114980-48114993 chr8:48114979-48115000 chr8:48114978-48114994
42	CTCF	chr8:48114864-48115097	Kidney_OC	kidney:	n/a	chr8:48114977-48114995 chr8:48114980-48114993 chr8:48114979-48115000 chr8:48114978-48114994
43	RAD21	chr8:48114729-48115257	ECC-1	luminal epithelium:	n/a	chr8:48114978-48114997 chr8:48114983-48114995
44	CTCF	chr8:48114748-48115200	HepG2	liver:	n/a	chr8:48114977-48114995 chr8:48114980-48114993 chr8:48114979-48115000 chr8:48114978-48114994
45	CTCF	chr8:48114920-48115070	BJ	skin:	n/a	chr8:48114977-48114995 chr8:48114980-48114993 chr8:48114979-48115000 chr8:48114978-48114994
46	CTCF	chr8:48114863-48115062	SK-N-SH_RA	brain:	n/a	chr8:48114977-48114995 chr8:48114980-48114993 chr8:48114979-48115000 chr8:48114978-48114994
47	RAD21	chr8:48114818-48115091	GM12878	blood:	n/a	chr8:48114978-48114997 chr8:48114983-48114995
48	CTCF	chr8:48114920-48115070	AG04449	skin:	n/a	chr8:48114977-48114995 chr8:48114980-48114993 chr8:48114979-48115000 chr8:48114978-48114994
49	CTCF	chr8:48114920-48115070	GM12865	blood:	n/a	chr8:48114977-48114995 chr8:48114980-48114993 chr8:48114979-48115000 chr8:48114978-48114994
50	CTCF	chr8:48114880-48115030	K562	blood:	n/a	chr8:48114977-48114995 chr8:48114980-48114993 chr8:48114979-48115000 chr8:48114978-48114994

No.	Distal block	Cell Line	Cell type
1	chr8:48112895..48115020-chr8:48649456..48652185,2	K562	blood:
2	chr8:48114948..48116858-chr8:48648714..48650275,2	K562	blood:
3	chr8:48105374..48106076-chr8:48114620..48115419,2	MCF-7	breast:
4	chr8:48114707..48115409-chr8:48171741..48172515,2	MCF-7	breast:
5	chr8:48105532..48109361-chr8:48112947..48117010,3	K562	blood:

Variant related genes	Relation type
ENSG00000248347	TF binding region
IGLV8OR8-1	TF binding region
ENSG00000253502	Chromatin interaction
ENSG00000221869	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10086987	0.84[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs10102598	0.84[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs10808752	0.81[EUR][1000 genomes]
rs10957074	0.82[EUR][1000 genomes]
rs11774001	0.80[EUR][1000 genomes]
rs11778117	0.85[EUR][1000 genomes]
rs11779308	0.96[CEU][hapmap];0.95[TSI][hapmap];0.96[EUR][1000 genomes]
rs11779423	0.96[CEU][hapmap];0.95[TSI][hapmap];0.97[EUR][1000 genomes]
rs11781727	0.80[EUR][1000 genomes]
rs11782287	0.83[EUR][1000 genomes]
rs11783141	0.95[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.83[EUR][1000 genomes]
rs11785228	0.81[EUR][1000 genomes]
rs12541086	0.81[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];0.93[GIH][hapmap];0.83[JPT][hapmap];0.93[MEX][hapmap];0.91[TSI][hapmap]
rs12543823	0.82[EUR][1000 genomes]
rs12550067	0.95[EUR][1000 genomes]
rs12680669	0.80[EUR][1000 genomes]
rs12682269	0.82[EUR][1000 genomes]
rs13259872	0.96[CEU][hapmap];0.95[TSI][hapmap];0.97[EUR][1000 genomes]
rs13259913	0.80[EUR][1000 genomes]
rs13273902	0.85[EUR][1000 genomes]
rs2087656	0.96[CEU][hapmap];0.88[TSI][hapmap];0.82[EUR][1000 genomes]
rs2172121	0.80[EUR][1000 genomes]
rs2355357	0.81[EUR][1000 genomes]
rs2362554	0.81[EUR][1000 genomes]
rs34099416	0.82[EUR][1000 genomes]
rs35424826	0.85[EUR][1000 genomes]
rs36103744	0.80[EUR][1000 genomes]
rs4242439	0.96[CEU][hapmap];0.97[EUR][1000 genomes]
rs4495437	0.95[EUR][1000 genomes]
rs4498545	0.96[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.83[GIH][hapmap];0.83[JPT][hapmap];0.93[MEX][hapmap];0.88[TSI][hapmap];0.82[EUR][1000 genomes]
rs4872957	0.96[CEU][hapmap];0.93[TSI][hapmap];0.97[EUR][1000 genomes]
rs4873102	0.82[EUR][1000 genomes]
rs4873106	0.81[EUR][1000 genomes]
rs56099826	0.90[EUR][1000 genomes]
rs6472229	0.85[EUR][1000 genomes]
rs6981790	0.81[EUR][1000 genomes]
rs6990123	0.81[EUR][1000 genomes]
rs6994218	0.81[EUR][1000 genomes]
rs7016791	0.96[CEU][hapmap];0.91[TSI][hapmap]
rs7819806	0.96[CEU][hapmap];0.95[TSI][hapmap];0.97[EUR][1000 genomes]
rs7826284	0.81[EUR][1000 genomes]
rs7839134	0.85[EUR][1000 genomes]
rs902619	0.96[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];0.83[JPT][hapmap];0.93[MEX][hapmap];0.88[TSI][hapmap];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025638	chr8:47361534-48176434	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv530881	chr8:47456285-48129198	Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
3	nsv1020467	chr8:47456484-48174712	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
4	nsv539589	chr8:47456484-48174712	Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	nsv1028036	chr8:47531749-48256108	Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
6	nsv1019289	chr8:47536056-48251883	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
7	nsv539591	chr8:47536056-48251883	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
8	nsv530882	chr8:47620846-48223868	ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
9	nsv1015347	chr8:47698082-48318579	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
10	nsv539593	chr8:47698082-48318579	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
11	esv3693377	chr8:47824261-48582964	Genic enhancers Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
12	nsv890847	chr8:47937950-48124855	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
13	nsv916549	chr8:47982642-48223882	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
14	nsv491863	chr8:48053825-48586176	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4388466	KIAA0146	cis	parietal	SCAN
rs4388466	MCM4	cis	cerebellum	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48101000-48116000	Weak transcription	Gastric	stomach
2	chr8:48113600-48115200	Enhancers	Stomach Mucosa	stomach
3	chr8:48113800-48115400	Enhancers	Primary B cells from peripheral blood	blood
4	chr8:48114000-48115200	Enhancers	Primary B cells from cord blood	blood
5	chr8:48114400-48115200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr8:48114600-48115200	Enhancers	Fetal Muscle Leg	muscle
7	chr8:48114600-48117200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr8:48115000-48115200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr8:48115000-48115200	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr8:48115000-48115200	Flanking Active TSS	Fetal Muscle Trunk	muscle
11	chr8:48115000-48115200	Enhancers	Pancreas	Pancrea
12	chr8:48115000-48115200	Enhancers	Right Atrium	heart
13	chr8:48115000-48115400	Active TSS	Hela-S3	cervix

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