Variant report

Variant	rs10801449
Chromosome Location	chr1:195708999-195709000
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	chr1:195707846..195709349-chr1:195709392..195711387,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10921892	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10921902	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11587693	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11587700	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11802328	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12074167	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12083340	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12083881	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1576764	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17626633	0.89[EUR][1000 genomes]
rs17626902	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17672688	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17673134	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2895785	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2942924	0.86[ASN][1000 genomes]
rs2989971	0.86[ASN][1000 genomes]
rs3010156	0.84[ASN][1000 genomes]
rs4304556	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4514223	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55707019	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55894754	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56012771	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56024053	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56067913	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72734142	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72734144	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72734150	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72734151	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72734153	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72734155	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72734156	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72734157	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72734159	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72734164	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72734165	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72734166	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72734169	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72734170	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7415128	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv872894	chr1:195053221-195745968	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1009307	chr1:195368381-195726703	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv872932	chr1:195447286-195736070	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv872937	chr1:195493538-195849028	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
5	nsv1007203	chr1:195672857-195902360	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10801449	GLRX2	cis	cerebellum	SCAN

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:195701800-195710800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:195702800-195712200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr1:195707200-195710000	Enhancers	Placenta Amnion	Placenta Amnion
4	chr1:195707800-195709000	Enhancers	A549	lung
5	chr1:195708000-195709200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr1:195708000-195712400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:195708600-195709000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:195708600-195710600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr1:195708800-195710800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr1:195708800-195711200	Weak transcription	HUES64 Cell Line	embryonic stem cell

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