Variant report

Variant	rs9363824
Chromosome Location	chr6:68643234-68643235
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	RAD21	chr6:68643090-68643623	H1-hESC	embryonic stem cell:	n/a	chr6:68643370-68643379 chr6:68643366-68643385 chr6:68643371-68643383
2	CTCF	chr6:68643146-68643584	GM12878	blood:	n/a	chr6:68643367-68643388 chr6:68643365-68643383
3	BHLHE40	chr6:68643206-68643522	K562	blood:	n/a	n/a
4	CTCF	chr6:68643233-68643492	MCF-7	breast:	n/a	chr6:68643367-68643388 chr6:68643365-68643383
5	RAD21	chr6:68643181-68643653	MCF-7	breast:	n/a	chr6:68643370-68643379 chr6:68643366-68643385 chr6:68643371-68643383
6	SMC3	chr6:68643195-68643549	GM12878	blood:	n/a	chr6:68643367-68643381
7	RAD21	chr6:68643162-68643499	SK-N-SH_RA	brain:	n/a	chr6:68643370-68643379 chr6:68643366-68643385 chr6:68643371-68643383
8	CTCF	chr6:68643118-68643588	MCF-7	breast:	n/a	chr6:68643367-68643388 chr6:68643365-68643383
9	RAD21	chr6:68643121-68643615	H1-hESC	embryonic stem cell:	n/a	chr6:68643370-68643379 chr6:68643366-68643385 chr6:68643371-68643383
10	CTCF	chr6:68643200-68643350	GM12878	blood:	n/a	n/a
11	CTCF	chr6:68643210-68643482	H1-hESC	embryonic stem cell:	n/a	chr6:68643367-68643388 chr6:68643365-68643383
12	CTCF	chr6:68643042-68643554	K562	blood:	n/a	chr6:68643367-68643388 chr6:68643365-68643383
13	RAD21	chr6:68643191-68643485	K562	blood:	n/a	chr6:68643370-68643379 chr6:68643366-68643385 chr6:68643371-68643383
14	CTCF	chr6:68643230-68643487	Gliobla	brain:	n/a	chr6:68643367-68643388 chr6:68643365-68643383
15	RAD21	chr6:68643226-68643404	K562	blood:	n/a	chr6:68643370-68643379 chr6:68643366-68643385 chr6:68643371-68643383
16	USF1	chr6:68643177-68643509	H1-hESC	embryonic stem cell:	n/a	n/a
17	USF1	chr6:68643177-68643519	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr6:68643230-68643430	GM12891	blood:	n/a	chr6:68643367-68643388 chr6:68643365-68643383
19	CTCF	chr6:68643167-68643561	MCF-7	breast:	n/a	chr6:68643367-68643388 chr6:68643365-68643383
20	RAD21	chr6:68643191-68643626	MCF-7	breast:	n/a	chr6:68643370-68643379 chr6:68643366-68643385 chr6:68643371-68643383
21	RAD21	chr6:68643216-68643569	GM12878	blood:	n/a	chr6:68643370-68643379 chr6:68643366-68643385 chr6:68643371-68643383
22	RAD21	chr6:68643195-68643550	GM12878	blood:	n/a	chr6:68643370-68643379 chr6:68643366-68643385 chr6:68643371-68643383
23	RAD21	chr6:68643158-68643590	ECC-1	luminal epithelium:	n/a	chr6:68643370-68643379 chr6:68643366-68643385 chr6:68643371-68643383
24	RAD21	chr6:68643158-68643556	H1-hESC	embryonic stem cell:	n/a	chr6:68643370-68643379 chr6:68643366-68643385 chr6:68643371-68643383
25	CTCF	chr6:68643199-68643492	H1-hESC	embryonic stem cell:	n/a	chr6:68643367-68643388 chr6:68643365-68643383

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:68642346..68643318-chr6:68935421..68936071,2	MCF-7	breast:
2	chr6:68597581..68600256-chr6:68643014..68644581,2	K562	blood:

Variant related genes	Relation type
ENSG00000270509	TF binding region
ENSG00000227706	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10214556	0.92[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1079471	1.00[CHB][hapmap];0.84[JPT][hapmap];0.84[ASN][1000 genomes]
rs10945033	0.87[CEU][hapmap];0.83[CHB][hapmap];0.84[JPT][hapmap];0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12178826	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1514350	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1514362	0.91[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1547547	0.87[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1877779	0.83[CHB][hapmap]
rs2048704	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2090115	1.00[CHB][hapmap];0.92[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2102680	0.90[CHB][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2137885	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6455259	0.87[YRI][hapmap]
rs6912774	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6913938	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6915750	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6918745	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6919995	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6940958	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7748806	0.87[YRI][hapmap]
rs7755930	1.00[CHB][hapmap];0.86[JPT][hapmap];0.88[ASN][1000 genomes]
rs7771084	1.00[CHB][hapmap];0.84[JPT][hapmap];0.88[ASN][1000 genomes]
rs9294781	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9294782	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9342670	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9342677	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9346088	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9346098	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9346101	1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9346108	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9351686	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9351689	0.83[CHB][hapmap]
rs9363827	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9363833	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9363839	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9363840	0.83[CHB][hapmap]
rs9445935	0.94[AFR][1000 genomes]
rs9445939	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9454389	0.80[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027923	chr6:67830533-68828337	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1016471	chr6:67854363-68708368	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv538292	chr6:67854363-68708368	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv603589	chr6:67975166-68865718	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv886115	chr6:68341629-68644319	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv3415097	chr6:68536406-69244164	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv603603	chr6:68549996-68648868	ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv886127	chr6:68549996-68658266	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv520584	chr6:68563328-68644319	Enhancers Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv603604	chr6:68563328-68644319	Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv981304	chr6:68642360-68647148	Enhancers Weak transcription	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:68641200-68646000	Weak transcription	K562	blood

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