Variant report

Variant	rs17620588
Chromosome Location	chr14:83609679-83609680
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10136709	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10484147	0.84[AFR][1000 genomes]
rs10484149	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11159580	0.92[EUR][1000 genomes]
rs1154827	0.92[EUR][1000 genomes]
rs12432156	0.94[EUR][1000 genomes]
rs12587751	1.00[JPT][hapmap]
rs1263433	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1263435	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1263436	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1263444	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1379238	0.92[EUR][1000 genomes]
rs1542404	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17118037	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17621944	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59918546	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs66736555	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv902126	chr14:83499664-83673387	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv902127	chr14:83524701-83746190	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv1041909	chr14:83532477-83904217	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv542148	chr14:83532477-83904217	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv902128	chr14:83541394-83665111	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
6	nsv902130	chr14:83550975-83673387	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
7	nsv902132	chr14:83562841-83665111	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
8	nsv902133	chr14:83562841-83673387	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS	n/a	n/a	inside rSNPs	diseases
9	nsv902134	chr14:83562841-83725177	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv902135	chr14:83583841-83725177	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv902136	chr14:83587297-83665111	ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases
12	nsv902137	chr14:83587297-83673387	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases
13	nsv902138	chr14:83591673-83665111	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases
14	nsv902139	chr14:83591673-83673387	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	n/a	n/a	inside rSNPs	diseases
15	nsv902140	chr14:83591673-83725177	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
16	nsv902141	chr14:83593084-83673387	Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
17	nsv902142	chr14:83593084-83688594	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
18	nsv902143	chr14:83600010-83665111	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	inside rSNPs	diseases
19	nsv902144	chr14:83600010-83673387	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17620588	SATB1	trans	brain	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:83609200-83609800	Weak transcription	HUES64 Cell Line	embryonic stem cell

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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