Variant report

Variant	rs10157510
Chromosome Location	chr1:171722990-171722991
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr1:171722872-171723581	K562	blood:	n/a	n/a
2	TBL1XR1	chr1:171722755-171723613	K562	blood:	n/a	n/a
3	BHLHE40	chr1:171722890-171723879	K562	blood:	n/a	n/a
4	UBTF	chr1:171722930-171723313	K562	blood:	n/a	n/a
5	CCNT2	chr1:171722898-171723257	K562	blood:	n/a	n/a
6	POLR2A	chr1:171722964-171723109	K562	blood:	n/a	n/a
7	SPI1	chr1:171722851-171723111	K562	blood:	n/a	n/a
8	TEAD4	chr1:171722769-171723577	K562	blood:	n/a	n/a
9	JUN	chr1:171722620-171723093	K562	blood:	n/a	n/a
10	TBP	chr1:171722977-171723314	K562	blood:	n/a	n/a
11	ELF1	chr1:171722877-171723194	K562	blood:	n/a	n/a
12	MAZ	chr1:171722890-171723762	K562	blood:	n/a	n/a
13	RCOR1	chr1:171722777-171723235	K562	blood:	n/a	n/a
14	JUND	chr1:171722834-171723642	K562	blood:	n/a	n/a
15	UBTF	chr1:171722901-171723194	K562	blood:	n/a	n/a
16	POLR2A	chr1:171722769-171728047	K562	blood:	n/a	n/a
17	MYC	chr1:171722701-171723402	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:171710837..171713389-chr1:171720682..171723071,4	K562	blood:
2	chr1:171722184..171727474-chr1:171729363..171734018,7	K562	blood:
3	chr1:171714902..171716862-chr1:171721473..171724148,2	K562	blood:
4	chr1:171710699..171713555-chr1:171719677..171724483,6	MCF-7	breast:
5	chr1:171719352..171723049-chr1:171749265..171752646,3	MCF-7	breast:
6	chr1:171721245..171723879-chr1:171723986..171725815,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000232261	TF binding region
ENSG00000236741	Chromatin interaction
ENSG00000117533	Chromatin interaction
ENSG00000010165	Chromatin interaction
ENSG00000271459	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10157503	1.00[CEU][hapmap];0.85[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10157884	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10158135	1.00[ASW][hapmap];1.00[CEU][hapmap];0.97[LWK][hapmap];1.00[MKK][hapmap];0.88[TSI][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10913576	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[LWK][hapmap];0.88[TSI][hapmap];0.92[YRI][hapmap];0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10913593	1.00[ASW][hapmap];1.00[CEU][hapmap];0.87[LWK][hapmap];0.88[TSI][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10913596	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10913606	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11800547	1.00[CEU][hapmap]
rs12060179	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12061738	1.00[CEU][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12062285	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12063480	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12066199	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12067353	1.00[CEU][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12067531	1.00[CEU][hapmap];0.85[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12071344	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12081088	1.00[CEU][hapmap]
rs12081515	1.00[CEU][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12097109	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28786201	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41263720	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41263722	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56707255	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57058497	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57089756	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57358569	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57863933	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57885759	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58182859	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58539497	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58642116	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59134075	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59191288	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59664913	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60965478	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61078534	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61170343	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61180943	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61188438	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61566417	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73044088	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73045803	0.99[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73045806	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73045810	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73045811	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73045815	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73045816	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73045817	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73045818	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73045820	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73045823	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73045825	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73045827	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7511865	0.93[ASW][hapmap];1.00[CEU][hapmap];0.87[LWK][hapmap];0.88[TSI][hapmap];0.85[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7550012	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv3512995	chr1:171329123-171994470	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	esv3512997	chr1:171329123-171994470	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	esv12447	chr1:171556291-171726822	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171712000-171723400	Weak transcription	Lung	lung
2	chr1:171718600-171723000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:171720800-171724800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr1:171721000-171725600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:171721600-171723000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:171722200-171724800	Enhancers	NHLF	lung
7	chr1:171722600-171723800	Flanking Active TSS	K562	blood
8	chr1:171722800-171723000	Enhancers	HSMMtube	muscle
9	chr1:171722800-171723000	Enhancers	NHDF-Ad	bronchial
10	chr1:171722800-171723200	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr1:171722800-171723200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr1:171722800-171723200	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr1:171722800-171723200	Enhancers	NHEK	skin
14	chr1:171722800-171724200	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr1:171722800-171724200	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr1:171722800-171724200	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr1:171722800-171724200	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr1:171722800-171724400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:171722800-171724400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:171722800-171724400	Enhancers	HSMM	muscle
21	chr1:171722800-171724600	Enhancers	HMEC	breast
22	chr1:171722800-171724800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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