Variant report

Variant	rs12173985
Chromosome Location	chr6:27641083-27641084
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:27521716..27523597-chr6:27638518..27641412,2	K562	blood:
2	chr6:27113851..27116551-chr6:27640385..27642305,2	K562	blood:
3	chr6:27514797..27517693-chr6:27638878..27641841,2	K562	blood:
4	chr6:27102022..27104222-chr6:27640274..27641905,2	K562	blood:
5	chr6:27638628..27643322-chr6:27645901..27648389,5	K562	blood:
6	chr6:27640023..27641609-chr6:27744727..27746412,2	K562	blood:
7	chr6:27102022..27104611-chr6:27640274..27642821,2	K562	blood:
8	chr6:27635489..27641593-chr6:27648456..27655439,10	K562	blood:
9	chr6:27114095..27116551-chr6:27640385..27641956,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000184825	Chromatin interaction
ENSG00000265565	Chromatin interaction
ENSG00000197903	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10484400	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10946943	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1157432	0.95[EUR][1000 genomes]
rs12055685	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12174087	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12663707	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12664599	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1555021	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16867886	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16867916	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16867921	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16867976	0.91[EUR][1000 genomes]
rs16867983	0.91[EUR][1000 genomes]
rs1973889	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56408767	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59893892	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60096640	0.89[EUR][1000 genomes]
rs6906653	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6920044	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73385147	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73385152	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73385154	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73739763	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7753236	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs878241	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9348771	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9348777	0.91[EUR][1000 genomes]
rs9348778	0.83[EUR][1000 genomes]
rs9357043	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9357044	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9357048	0.91[EUR][1000 genomes]
rs9368517	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9368521	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9368524	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9368525	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9368526	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9379995	0.87[ASN][1000 genomes]
rs9380000	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9380001	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9380005	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9393832	0.93[ASN][1000 genomes]
rs9393835	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9393836	0.98[AFR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9393838	0.90[AFR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9393839	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9393842	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9393843	0.89[ASN][1000 genomes]
rs9393849	0.91[EUR][1000 genomes]
rs9393852	0.95[EUR][1000 genomes]
rs9393856	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022797	chr6:27396961-27864277	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	390 gene(s)	inside rSNPs	diseases
2	nsv883510	chr6:27550712-27730064	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
3	nsv1023673	chr6:27570731-27688782	Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv830618	chr6:27593274-27789605	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
5	nsv1031337	chr6:27596676-27734884	Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
6	nsv525669	chr6:27623511-27657647	Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv883511	chr6:27623511-27660508	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
8	esv2830157	chr6:27634640-27657647	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
9	nsv518945	chr6:27634640-27668013	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27634800-27641400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
2	chr6:27635200-27641200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:27638000-27641200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr6:27638000-27641200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr6:27638000-27641400	Active TSS	H9 Cell Line	embryonic stem cell
6	chr6:27638200-27641400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr6:27638400-27641200	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr6:27638400-27641400	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr6:27638400-27641400	Active TSS	H1 Cell Line	embryonic stem cell
10	chr6:27639600-27641200	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr6:27639600-27641400	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr6:27639600-27641400	Active TSS	A549	lung
13	chr6:27639600-27641600	Active TSS	K562	blood
14	chr6:27639800-27641200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
15	chr6:27640000-27641200	Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr6:27640400-27641200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr6:27640800-27647400	Weak transcription	GM12878-XiMat	blood
18	chr6:27641000-27641200	Flanking Active TSS	HepG2	liver

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