Variant report

Variant	rs689956
Chromosome Location	chr18:8855939-8855940
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:8841452..8843740-chr18:8854124..8856281,2	K562	blood:
2	chr18:8846698..8849745-chr18:8854648..8857686,3	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10502384	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12605622	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs595612	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs619665	0.83[AMR][1000 genomes]
rs625719	0.85[EUR][1000 genomes]
rs632355	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs642510	0.86[AFR][1000 genomes]
rs644181	0.85[AMR][1000 genomes]
rs646828	0.82[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs650038	0.89[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs670578	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs673730	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs690076	0.89[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs690206	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs690237	0.80[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs690517	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs690570	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064883	chr18:8709670-9133224	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv833584	chr18:8728616-8904213	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv909363	chr18:8775184-8858086	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8845200-8856200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr18:8845600-8856000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr18:8852000-8856200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr18:8854000-8856600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr18:8854200-8856200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr18:8854400-8856000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr18:8854800-8856000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr18:8854800-8858800	Weak transcription	A549	lung
9	chr18:8854800-8859200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr18:8855000-8856000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr18:8855000-8856200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr18:8855200-8856200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr18:8855200-8856200	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr18:8855200-8856200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr18:8855200-8856200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr18:8855200-8856200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr18:8855200-8856600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr18:8855200-8859000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr18:8855400-8859000	Weak transcription	NHLF	lung
20	chr18:8855400-8860200	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr18:8855800-8856400	Enhancers	Fetal Thymus	thymus

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