Variant report

Variant	rs10471197
Chromosome Location	chr4:172868453-172868454
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10004984	1.00[YRI][hapmap]
rs10019490	1.00[YRI][hapmap]
rs10021624	1.00[AMR][1000 genomes]
rs10021857	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10022562	1.00[AMR][1000 genomes]
rs10027525	1.00[AMR][1000 genomes]
rs10471194	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10471195	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10471196	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13434610	1.00[AMR][1000 genomes]
rs13434620	1.00[AMR][1000 genomes]
rs13435186	1.00[AMR][1000 genomes]
rs13435577	0.82[YRI][hapmap];1.00[AMR][1000 genomes]
rs28368507	1.00[AMR][1000 genomes]
rs28463325	1.00[AMR][1000 genomes]
rs28475852	1.00[AMR][1000 genomes]
rs28516370	1.00[AMR][1000 genomes]
rs28541484	1.00[AMR][1000 genomes]
rs28546731	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28647375	1.00[AMR][1000 genomes]
rs28696751	1.00[AMR][1000 genomes]
rs28702744	1.00[AMR][1000 genomes]
rs28756913	1.00[AMR][1000 genomes]
rs58087716	1.00[AMR][1000 genomes]
rs61406189	1.00[AMR][1000 genomes]
rs6851131	1.00[AMR][1000 genomes]
rs7682410	0.90[YRI][hapmap]
rs9995741	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022527	chr4:172547732-173236939	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv537357	chr4:172547732-173236939	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1024693	chr4:172609237-173236939	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv596197	chr4:172797761-172868945	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv520744	chr4:172797761-172897603	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv1029351	chr4:172809594-172893072	Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
7	nsv498033	chr4:172830955-173121438	Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	esv3466667	chr4:172867893-172868754	Enhancers	n/a	n/a	inside rSNPs	n/a
9	esv3466668	chr4:172867893-172868754	Enhancers	n/a	n/a	inside rSNPs	n/a
10	nsv822836	chr4:172868077-172868628	Enhancers	n/a	n/a	inside rSNPs	n/a

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:172867600-172869000	Enhancers	iPS-18 Cell Line	embryonic stem cell
2	chr4:172868000-172869000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr4:172868200-172869600	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr4:172868400-172868800	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr4:172868400-172868800	Enhancers	Brain Anterior Caudate	brain
6	chr4:172868400-172869000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:172868400-172869000	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr4:172868400-172869000	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr4:172868400-172869000	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr4:172868400-172869600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr4:172868400-172869800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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