Variant report

Variant	rs57938769
Chromosome Location	chr17:37613133-37613134
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:37610533..37614479-chr17:37614932..37618128,4	MCF-7	breast:
2	chr17:37612285..37614010-chr17:37617714..37619642,3	K562	blood:

Variant related genes	Relation type
ENSG00000167258	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs12940109	1.00[AMR][1000 genomes]
rs12940881	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12940956	1.00[AMR][1000 genomes]
rs12945363	1.00[AMR][1000 genomes]
rs12947238	1.00[AMR][1000 genomes]
rs12953178	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34821956	1.00[AMR][1000 genomes]
rs34904106	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34910003	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34983824	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35194764	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35269184	1.00[AMR][1000 genomes]
rs35366897	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35499078	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35656573	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35829705	1.00[AMR][1000 genomes]
rs35853230	1.00[AMR][1000 genomes]
rs35896550	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59775294	1.00[AMR][1000 genomes]
rs6503512	1.00[AMR][1000 genomes]
rs71369747	0.83[AMR][1000 genomes]
rs71369760	0.83[AMR][1000 genomes]
rs71369763	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs71369765	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs71369767	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs71577045	0.83[AMR][1000 genomes]
rs7212530	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7212780	1.00[AMR][1000 genomes]
rs7218668	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7226222	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8064372	1.00[AMR][1000 genomes]
rs8069194	1.00[AMR][1000 genomes]
rs8073144	1.00[AMR][1000 genomes]
rs8074199	1.00[AMR][1000 genomes]
rs8076843	1.00[AMR][1000 genomes]
rs8077259	1.00[AMR][1000 genomes]
rs8077822	1.00[AMR][1000 genomes]
rs8079346	1.00[AMR][1000 genomes]
rs8080830	1.00[AMR][1000 genomes]
rs8081561	1.00[AMR][1000 genomes]
rs9747574	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9747666	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932024	chr17:37192290-37850932	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	92 gene(s)	inside rSNPs	diseases
2	nsv1060126	chr17:37333956-37659189	Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
3	nsv1057655	chr17:37333956-37732451	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
4	nsv1066033	chr17:37333956-37795617	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
5	nsv543340	chr17:37333956-37795617	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer 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	78 gene(s)	inside rSNPs	diseases
6	nsv908204	chr17:37349655-37682657	Genic enhancers Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
7	nsv1057057	chr17:37395082-37627025	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	nsv1061951	chr17:37442228-37770903	Bivalent Enhancer Strong transcription Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
9	nsv543341	chr17:37442228-37770903	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
10	esv1825702	chr17:37487168-37876767	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
11	nsv532712	chr17:37521822-37768345	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
12	nsv1063848	chr17:37575622-37707592	Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37608400-37616800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr17:37608400-37617200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr17:37608600-37614000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr17:37608600-37616800	Weak transcription	Hela-S3	cervix
5	chr17:37608600-37617200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr17:37608800-37616800	Weak transcription	Right Ventricle	heart
7	chr17:37610800-37616800	Weak transcription	K562	blood
8	chr17:37611600-37613400	Weak transcription	HepG2	liver
9	chr17:37612000-37616400	Weak transcription	Liver	Liver

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