Variant report

Variant	rs1317170
Chromosome Location	chr1:226598314-226598315
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:226494405..226496827-chr1:226598001..226600824,2	K562	blood:

Variant related genes	Relation type
ENSG00000183814	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1136410	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12143101	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1433574	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1527363	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1527365	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1805404	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1805411	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1805415	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1891107	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1891108	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2027440	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2039925	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2048425	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2117114	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2249731	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2255403	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2271349	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2377312	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2570367	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2695242	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2695243	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2793379	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2793381	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2793658	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3219065	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3219082	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3219104	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56033994	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs752307	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs752309	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs907187	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs907188	0.80[AMR][1000 genomes]
rs907190	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs907191	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs907192	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs907193	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs932002	0.82[AMR][1000 genomes];0.84[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	nsv832770	chr1:226465130-226655512	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv832781	chr1:226570901-226750697	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226595400-226607000	Weak transcription	Fetal Brain Male	brain
2	chr1:226596200-226599400	Weak transcription	HSMMtube	muscle
3	chr1:226596200-226602000	Weak transcription	Esophagus	oesophagus
4	chr1:226596200-226602000	Weak transcription	Fetal Thymus	thymus
5	chr1:226596200-226622600	Weak transcription	Right Atrium	heart
6	chr1:226596400-226601200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:226596600-226598800	Weak transcription	GM12878-XiMat	blood
8	chr1:226596600-226601600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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