Variant report

Variant	rs34173247
Chromosome Location	chr2:210333824-210333825
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	chr2:210322985..210324629-chr2:210333170..210335360,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12988428	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12988648	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12989474	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12993284	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12996619	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12997113	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13005787	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13015411	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13020911	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13027280	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13030060	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34210024	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34382912	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34628265	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34807931	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35174339	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35241611	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35520781	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35887391	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6725710	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6761302	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71420755	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71420759	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834518	chr2:210204958-210372744	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
2	nsv834519	chr2:210271017-210400153	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 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	chr2:210306600-210337000	Weak transcription	Aorta	Aorta
2	chr2:210319800-210341000	Weak transcription	Fetal Brain Female	brain
3	chr2:210322600-210337200	Weak transcription	Brain Anterior Caudate	brain
4	chr2:210328200-210340000	Weak transcription	Brain Germinal Matrix	brain
5	chr2:210329600-210339600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr2:210332000-210334200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr2:210332800-210351200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr2:210333400-210334600	Enhancers	NHEK	skin
9	chr2:210333400-210334800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:210333400-210335000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:210333600-210335800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr2:210333800-210340800	Enhancers	Cortex derived primary cultured neurospheres	brain

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