Variant report

Variant	rs17672688
Chromosome Location	chr1:195686601-195686602
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	chr1:195679087..195683591-chr1:195685074..195688341,4	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10801449	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10921892	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10921902	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11587693	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11587700	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11802328	0.88[EUR][1000 genomes]
rs12074167	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12083340	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12083881	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1576764	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17626633	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17626902	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17673134	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2895785	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4304556	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4514223	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55707019	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs55894754	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56012771	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56024053	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56067913	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72734142	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72734144	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72734150	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72734151	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72734153	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72734155	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72734156	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72734157	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72734159	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72734164	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72734165	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72734166	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72734169	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72734170	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7415128	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv1004171	chr1:195470205-195687680	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
5	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
6	nsv997435	chr1:195567159-195687680	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv947460	chr1:195646625-195689578	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv467271	chr1:195649363-195687201	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv548717	chr1:195649363-195687201	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	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
rs17672688	GLRX2	cis	cerebellum	SCAN

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:195682000-195686800	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr1:195684800-195687200	Weak transcription	A549	lung
3	chr1:195684800-195688400	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr1:195686200-195686800	Enhancers	NHDF-Ad	bronchial
5	chr1:195686200-195687400	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr1:195686200-195688800	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr1:195686200-195688800	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr1:195686400-195688800	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr1:195686600-195687400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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