Variant report

Variant	rs7001157
Chromosome Location	chr8:61226540-61226541
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:61226478..61228386-chr8:61230006..61231856,2	K562	blood:
2	chr8:61226489..61228868-chr8:61236749..61240187,3	K562	blood:
3	chr8:61191107..61195383-chr8:61226476..61230514,6	K562	blood:
4	chr8:61192394..61195185-chr8:61226476..61228228,2	K562	blood:

Variant related genes	Relation type
ENSG00000178538	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10086341	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10101374	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10957128	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11787427	0.81[CEU][hapmap]
rs11994317	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13269948	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13272076	0.88[CEU][hapmap];0.89[CHB][hapmap];0.84[JPT][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1480339	1.00[CEU][hapmap];0.89[CHB][hapmap];0.89[JPT][hapmap];0.81[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1824999	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1904780	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4737556	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6471860	0.92[CEU][hapmap];0.90[CHB][hapmap];0.84[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6998446	0.92[CEU][hapmap];0.89[CHB][hapmap];0.84[JPT][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7002846	0.92[CEU][hapmap];0.90[CHB][hapmap];0.84[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7002871	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7004004	0.83[CEU][hapmap];0.89[CHB][hapmap];0.84[JPT][hapmap];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7464531	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7813357	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7825247	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7841396	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer 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 miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv1022752	chr8:61095248-61322302	Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv831333	chr8:61102862-61275122	Strong transcription Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	esv3371465	chr8:61115030-61356658	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv831334	chr8:61148796-61330190	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	esv10424	chr8:61218121-61227873	Enhancers Weak transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61225600-61226600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr8:61225600-61227400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr8:61225800-61227200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr8:61226000-61227400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr8:61226200-61226600	Enhancers	H9 Cell Line	embryonic stem cell
6	chr8:61226200-61226600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr8:61226200-61227200	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr8:61226200-61228200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr8:61226400-61227400	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr8:61226400-61227400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr8:61226400-61227600	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr8:61226400-61228400	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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