Variant report

Variant	rs2067700
Chromosome Location	chr8:35433083-35433084
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	chr8:35431521..35433590-chr8:35435377..35437047,2	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs13251122	0.82[EUR][1000 genomes]
rs13266983	0.82[EUR][1000 genomes]
rs1439155	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1439160	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1439162	0.84[EUR][1000 genomes]
rs1866484	0.88[EUR][1000 genomes]
rs1898828	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2099682	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2579901	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2579903	1.00[EUR][1000 genomes]
rs2579904	1.00[EUR][1000 genomes]
rs2589334	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2589335	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2589336	0.95[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs2589339	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2589343	0.96[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2589346	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2589351	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2589352	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2589746	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2589747	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2589755	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2589761	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2589762	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2589763	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2918955	0.91[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs2918956	0.91[EUR][1000 genomes]
rs2918958	0.91[EUR][1000 genomes]
rs2918959	0.91[EUR][1000 genomes]
rs2918964	0.85[EUR][1000 genomes]
rs2918965	0.85[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs2918973	0.88[EUR][1000 genomes]
rs2918976	0.93[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs2958249	0.93[AFR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2958251	0.93[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs2958252	0.82[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs2958253	0.82[EUR][1000 genomes]
rs2958254	0.82[EUR][1000 genomes]
rs2958256	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs2958257	0.82[EUR][1000 genomes]
rs2978406	0.91[EUR][1000 genomes]
rs2978567	0.86[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs2978568	0.86[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs2978569	0.93[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs2978573	0.88[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs2978576	0.84[EUR][1000 genomes]
rs2978581	0.82[EUR][1000 genomes]
rs2978583	0.81[EUR][1000 genomes]
rs2978585	0.81[EUR][1000 genomes]
rs4481588	0.82[EUR][1000 genomes]
rs4534130	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1017085	chr8:34742896-35594241	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv539546	chr8:34742896-35594241	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv520421	chr8:35155517-35479468	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv533420	chr8:35358115-36227536	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	esv17338	chr8:35432477-35433678	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv610934	chr8:35432501-35433621	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv610935	chr8:35432666-35433621	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:35419000-35439400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr8:35419000-35439600	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr8:35423800-35439400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr8:35423800-35439600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr8:35424200-35439400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr8:35424200-35439400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr8:35431400-35439800	Weak transcription	Cortex derived primary cultured neurospheres	brain

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