Variant report

Variant	rs4840426
Chromosome Location	chr8:9408978-9408979
allele	G/T
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	CEBPB	chr8:9408503-9409147	K562	blood:	n/a	n/a
2	TEAD4	chr8:9408434-9409114	K562	blood:	n/a	n/a
3	HCFC1	chr8:9408753-9409043	K562	blood:	n/a	n/a
4	ATF3	chr8:9408689-9409163	K562	blood:	n/a	n/a
5	MAX	chr8:9408106-9409124	K562	blood:	n/a	chr8:9408622-9408633 chr8:9408887-9408896
6	RCOR1	chr8:9408426-9409080	K562	blood:	n/a	n/a
7	CEBPB	chr8:9408700-9409017	K562	blood:	n/a	n/a
8	TBL1XR1	chr8:9408807-9409132	K562	blood:	n/a	n/a
9	JUN	chr8:9408075-9410039	K562	blood:	n/a	chr8:9408739-9408749 chr8:9408551-9408560
10	MAZ	chr8:9408395-9409035	K562	blood:	n/a	chr8:9408622-9408633 chr8:9408887-9408896
11	EP300	chr8:9408472-9409232	K562	blood:	n/a	chr8:9409223-9409231 chr8:9409164-9409178 chr8:9409218-9409232 chr8:9408549-9408563 chr8:9408932-9408940 chr8:9408885-9408899
12	CEBPB	chr8:9408675-9409320	K562	blood:	n/a	chr8:9409219-9409236
13	CEBPB	chr8:9408697-9409260	Hela-S3	cervix:	n/a	chr8:9409219-9409236
14	JUND	chr8:9408844-9409019	HepG2	liver:	n/a	n/a
15	TRIM28	chr8:9408407-9409032	K562	blood:	n/a	n/a
16	CBX3	chr8:9408338-9408992	K562	blood:	n/a	n/a
17	JUND	chr8:9408493-9409134	K562	blood:	n/a	chr8:9408739-9408749 chr8:9408551-9408560
18	TEAD4	chr8:9408223-9409108	K562	blood:	n/a	n/a
19	ZMIZ1	chr8:9408568-9408987	K562	blood:	n/a	n/a
20	ATF1	chr8:9408613-9409146	K562	blood:	n/a	n/a
21	MYC	chr8:9408449-9409161	K562	blood:	n/a	chr8:9408622-9408633 chr8:9408887-9408896

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:9408610..9410364-chr8:9497260..9500179,3	K562	blood:
2	chr8:9408610..9410129-chr8:9497260..9499270,2	K562	blood:

Variant related genes	Relation type
TNKS	TF binding region

Extended variants
information (count: 43 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10092751	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10109026	0.87[CEU][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11249934	0.98[GIH][hapmap];0.91[JPT][hapmap];0.96[MEX][hapmap];0.83[TSI][hapmap]
rs12155819	1.00[ASW][hapmap];0.82[CEU][hapmap];0.95[GIH][hapmap];0.83[MEX][hapmap];0.82[YRI][hapmap]
rs12156017	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12542457	0.89[ASW][hapmap];0.82[CEU][hapmap];0.88[GIH][hapmap];0.91[JPT][hapmap]
rs12542912	0.82[CEU][hapmap]
rs12545250	0.82[CEU][hapmap];0.91[JPT][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12547642	0.81[AMR][1000 genomes]
rs12676193	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12677507	0.89[JPT][hapmap];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12682175	0.90[JPT][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13263409	0.80[YRI][hapmap]
rs13270518	0.83[YRI][hapmap]
rs13276086	0.83[ASW][hapmap];0.81[CEU][hapmap];0.95[GIH][hapmap]
rs1394	0.89[ASW][hapmap];0.98[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.80[YRI][hapmap]
rs1458942	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs33994795	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4075359	0.91[JPT][hapmap]
rs4128198	0.82[CEU][hapmap];0.86[JPT][hapmap];0.80[YRI][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4129360	0.85[CEU][hapmap];0.82[YRI][hapmap]
rs4840425	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4840437	1.00[ASW][hapmap];0.80[GIH][hapmap];0.82[YRI][hapmap]
rs4841196	0.93[GIH][hapmap];0.91[JPT][hapmap]
rs6601327	0.87[JPT][hapmap]
rs6601338	0.82[CEU][hapmap];0.95[JPT][hapmap];0.80[YRI][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6601340	0.91[JPT][hapmap];0.96[MEX][hapmap];0.81[TSI][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6980728	0.81[AMR][1000 genomes]
rs6982148	0.81[CEU][hapmap];0.82[YRI][hapmap]
rs6990300	0.83[ASW][hapmap];0.95[GIH][hapmap];0.80[MEX][hapmap]
rs6990418	0.82[CEU][hapmap];0.90[JPT][hapmap];0.83[YRI][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6994574	0.82[CEU][hapmap];0.95[GIH][hapmap];0.83[MEX][hapmap]
rs7004937	0.82[CEU][hapmap];0.90[JPT][hapmap];0.89[YRI][hapmap];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7016732	0.81[AMR][1000 genomes]
rs7461939	0.82[CEU][hapmap];0.95[GIH][hapmap]
rs7822700	0.85[JPT][hapmap]
rs7835002	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7846399	0.81[AMR][1000 genomes]
rs9644704	0.91[GIH][hapmap];0.90[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530864	chr8:9097498-9914548	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv497927	chr8:9097611-9544519	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1030524	chr8:9183482-9412833	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1033031	chr8:9310266-9418941	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs4840426	MFHAS1	cis	cerebellum	SCAN
rs4840426	FLJ10661	cis	cerebellum	SCAN
rs4840426	TNKS	cis	parietal	SCAN
rs4840426	CLDN23	cis	multi-tissue	Pritchard
rs4840426	DEFB134	cis	cerebellum	SCAN
rs4840426	PPP1R3B	cis	lymphoblastoid	seeQTL
rs4840426	TNKS	cis	cerebellum	SCAN
rs4840426	PRSS55	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9390000-9409800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:9404000-9412000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr8:9404800-9412800	Weak transcription	Right Atrium	heart
4	chr8:9407400-9409000	Enhancers	Fetal Intestine Small	intestine
5	chr8:9407800-9412200	Weak transcription	Fetal Intestine Large	intestine
6	chr8:9408400-9410000	Enhancers	K562	blood
7	chr8:9408600-9410400	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr8:9408800-9409400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr8:9408800-9409400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr8:9408800-9409600	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr8:9408800-9409600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr8:9408800-9410200	Enhancers	Primary hematopoietic stem cells	blood

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