Variant report

Variant	rs9658570
Chromosome Location	chr12:117650873-117650874
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:117649820..117651043-chr12:118274697..118275665,4	K562	blood:
2	chr12:117650128..117651136-chr12:117669197..117670289,6	MCF-7	breast:
3	chr12:117650558..117651087-chr12:118025216..118026112,2	K562	blood:
4	chr12:117650520..117651052-chr12:117663613..117664124,2	K562	blood:
5	chr12:117650460..117651090-chr12:117804541..117805158,2	MCF-7	breast:
6	chr12:117649962..117651061-chr12:118287430..118288439,7	MCF-7	breast:
7	chr12:117650494..117652487-chr12:118273816..118276438,2	MCF-7	breast:
8	chr12:117650181..117651091-chr12:117669166..117670178,4	MCF-7	breast:
9	chr12:117650523..117651024-chr12:118295130..118295741,2	K562	blood:
10	chr12:117650216..117651027-chr12:117908286..117909137,2	K562	blood:
11	chr12:117650089..117651054-chr12:118109578..118110427,4	MCF-7	breast:
12	chr12:117650139..117651011-chr12:117839641..117840548,2	K562	blood:

No data

No data

No data

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10850803	0.94[CEU][hapmap];1.00[CHB][hapmap];0.86[TSI][hapmap];0.86[EUR][1000 genomes]
rs11068413	1.00[ASN][1000 genomes]
rs12424169	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12425008	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2271986	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2293045	0.82[AMR][1000 genomes]
rs4766836	1.00[ASW][hapmap];0.94[CEU][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4766837	0.93[CEU][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4766838	0.87[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4767508	1.00[JPT][hapmap]
rs4767523	0.93[CEU][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73206094	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73206097	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9658472	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9658517	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9658525	0.90[EUR][1000 genomes]
rs9658536	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9658546	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9658556	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][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	nsv832526	chr12:117530234-117723821	Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers 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	14 gene(s)	inside rSNPs	diseases
2	nsv510592	chr12:117618872-117684713	Bivalent/Poised TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
3	nsv560360	chr12:117641229-117650873	Weak transcription Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
4	esv1846026	chr12:117641314-117650873	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
5	nsv560374	chr12:117641786-117650873	Enhancers Flanking Active TSS Weak transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a
6	nsv560382	chr12:117641949-117650873	Enhancers Flanking Active TSS Weak transcription Genic enhancers	Chromatin interactive region	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	chr12:117645200-117655600	Weak transcription	NHEK	skin
2	chr12:117646400-117664400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:117647600-117651200	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr12:117650600-117651000	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr12:117650600-117651000	Enhancers	Brain Angular Gyrus	brain
6	chr12:117650600-117651000	Enhancers	Brain Substantia Nigra	brain
7	chr12:117650600-117651200	Enhancers	Brain Hippocampus Middle	brain
8	chr12:117650600-117651400	Enhancers	A549	lung
9	chr12:117650800-117651000	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr12:117650800-117651200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr12:117650800-117651400	Enhancers	Breast Myoepithelial Primary Cells	Breast

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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