Variant report

Variant	rs720614
Chromosome Location	chr7:124452790-124452791
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	chr7:124446535..124448384-chr7:124452586..124455044,2	K562	blood:

Extended variants
information (count: 76 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs1009450	0.86[CEU][hapmap];1.00[GIH][hapmap];0.92[MEX][hapmap]
rs10224463	0.80[AFR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10225552	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10226033	0.94[CEU][hapmap];0.89[CHB][hapmap];0.86[JPT][hapmap];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10228201	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10230610	1.00[CEU][hapmap];0.90[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.93[MEX][hapmap];0.97[TSI][hapmap];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10233385	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10233596	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10240673	0.87[AFR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10241173	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10244817	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10246424	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10249722	0.90[ASN][1000 genomes]
rs10253613	0.87[AFR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10264060	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10265763	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10271646	0.91[CEU][hapmap];0.89[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.90[TSI][hapmap];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10281582	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10464529	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12111865	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1541416	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1541418	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17246404	0.95[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17325193	0.90[CEU][hapmap];1.00[GIH][hapmap];0.81[JPT][hapmap];1.00[MEX][hapmap];0.84[TSI][hapmap]
rs2107939	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2170352	0.86[CEU][hapmap]
rs2239532	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2286175	1.00[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2402751	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2402752	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28523990	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28622327	0.87[AFR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28638102	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28728448	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28844358	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34986416	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs36045816	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3925331	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4473974	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4532534	0.90[ASN][1000 genomes]
rs55964341	0.87[AFR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56313563	0.87[AFR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56321835	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56356267	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56387611	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59294613	0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59670428	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs66492217	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs66513837	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs66526112	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs66665074	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs66922607	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67084428	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67146030	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67552763	0.87[AFR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67585224	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67939974	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs68007199	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs68091803	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6943653	0.87[AFR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6952721	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6971909	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs720613	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs722560	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs727505	0.95[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7777947	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7790856	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7791430	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7795943	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7801661	1.00[ASW][hapmap];0.95[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7806680	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9655845	0.95[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs988699	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs989177	0.92[EUR][1000 genomes];0.86[ASN][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	nsv429809	chr7:123937674-124835925	Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
2	esv3446198	chr7:124358002-124586856	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs720614	GPR37	cis	lung	GTEx
rs720614	WASL	cis	cerebellum	SCAN
rs720614	IMPDH1	cis	parietal	SCAN

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:124445000-124463800	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr7:124445800-124454400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr7:124450000-124452800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr7:124450200-124454600	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr7:124450800-124452800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr7:124450800-124453400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr7:124450800-124453400	Weak transcription	Adipose Nuclei	Adipose
8	chr7:124450800-124454200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:124450800-124467000	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr7:124451000-124452800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr7:124451000-124454200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr7:124451000-124461800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr7:124451200-124461600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr7:124451400-124454200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr7:124451400-124463600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr7:124451600-124466600	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr7:124452400-124453400	Enhancers	HUES64 Cell Line	embryonic stem cell

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