Variant report

Variant	rs7001650
Chromosome Location	chr8:61226847-61226848
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: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs16925984	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16925991	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16925993	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16925996	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4130045	0.86[AMR][1000 genomes]
rs41337844	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57099349	0.93[AMR][1000 genomes]
rs57226758	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57639687	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58158351	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59083851	1.00[AMR][1000 genomes]
rs59464858	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59489989	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60611994	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs60623499	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60776885	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61335302	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61461169	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6982322	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6994338	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6994639	1.00[AMR][1000 genomes]
rs7001331	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7001911	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs7002034	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7814995	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs7833440	0.91[AFR][1000 genomes];0.86[AMR][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:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61225600-61227400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr8:61225800-61227200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr8:61226000-61227400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr8:61226200-61227200	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr8:61226200-61228200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr8:61226400-61227400	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr8:61226400-61227400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr8:61226400-61227600	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr8:61226400-61228400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr8:61226600-61228200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr8:61226600-61232800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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