Variant report

Variant	rs1467385
Chromosome Location	chr21:46121817-46121818
allele	A/T
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	HEY1	chr21:46121369-46121862	HepG2	liver:	n/a	n/a
2	POLR2A	chr21:46121690-46121869	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
KRTAP10-13P	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1107119	0.84[CHB][hapmap]
rs1108261	0.91[CEU][hapmap];1.00[CHB][hapmap];0.82[EUR][1000 genomes]
rs13048736	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13050276	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13051842	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1883044	0.81[ASN][1000 genomes]
rs2248350	0.84[JPT][hapmap]
rs2329895	0.93[ASN][1000 genomes]
rs2838642	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2838643	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2838647	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.96[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2838648	0.82[JPT][hapmap]
rs34103049	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34163868	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34800343	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35534934	0.80[ASN][1000 genomes]
rs4818965	0.87[CEU][hapmap];0.87[JPT][hapmap];0.87[MEX][hapmap];0.81[EUR][1000 genomes]
rs71317705	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8132257	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs878551	0.91[CEU][hapmap];0.92[CHB][hapmap];0.82[EUR][1000 genomes]
rs998421	0.94[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[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	nsv916258	chr21:45995986-46624705	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
2	nsv913956	chr21:46096964-46279505	Enhancers Bivalent Enhancer Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv1062245	chr21:46096964-46332587	Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv544478	chr21:46096964-46332587	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1467385	SESN1	trans	parietal	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:46101000-46122200	Weak transcription	Right Atrium	heart
2	chr21:46114400-46124400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr21:46118400-46123200	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr21:46118400-46123400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr21:46119800-46122400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr21:46121400-46122000	Bivalent Enhancer	Fetal Intestine Small	intestine
7	chr21:46121400-46122000	Flanking Active TSS	HepG2	liver
8	chr21:46121400-46125200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr21:46121600-46123200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr21:46121600-46123800	Enhancers	H1 Cell Line	embryonic stem cell
11	chr21:46121800-46122000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr21:46121800-46122000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
13	chr21:46121800-46122000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr21:46121800-46122000	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
15	chr21:46121800-46122400	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr21:46121800-46123000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr21:46121800-46123200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr21:46121800-46123600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr21:46121800-46124200	Enhancers	H9 Cell Line	embryonic stem cell
20	chr21:46121800-46124400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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