Variant report

Variant	rs10938801
Chromosome Location	chr4:20696980-20696981
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	chr4:20693086..20698959-chr4:20699230..20704175,9	K562	blood:

Variant related genes	Relation type
ENSG00000163138	Chromatin interaction

Extended variants
information (count: 81 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10017693	1.00[CHB][hapmap];0.84[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs10018931	0.84[AFR][1000 genomes]
rs10022322	0.88[ASW][hapmap];0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[MEX][hapmap];0.81[MKK][hapmap];0.82[YRI][hapmap];0.83[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs10024002	0.83[ASW][hapmap];0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[MEX][hapmap];0.81[MKK][hapmap];0.84[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs10025286	0.83[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs10034054	0.84[AFR][1000 genomes]
rs10084802	0.82[YRI][hapmap]
rs11932551	0.81[ASN][1000 genomes]
rs11941041	0.86[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs11944886	0.83[AFR][1000 genomes]
rs12331966	0.84[CEU][hapmap];0.81[CHB][hapmap];0.82[YRI][hapmap];0.84[AFR][1000 genomes]
rs12640448	1.00[CHB][hapmap];0.95[CHD][hapmap]
rs12641186	1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[ASN][1000 genomes]
rs12644782	0.85[YRI][hapmap]
rs16869851	1.00[ASN][1000 genomes]
rs16869886	0.81[AFR][1000 genomes]
rs16869889	0.84[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs17551335	0.89[ASN][1000 genomes]
rs17621796	0.82[ASN][1000 genomes]
rs17622163	0.89[ASN][1000 genomes]
rs17622371	1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs1985322	0.88[ASW][hapmap];0.83[CEU][hapmap];0.86[CHD][hapmap];0.81[MKK][hapmap];0.82[YRI][hapmap];0.81[AFR][1000 genomes]
rs2052775	0.84[CEU][hapmap];1.00[CHB][hapmap];0.82[YRI][hapmap];0.83[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs2114472	0.82[AFR][1000 genomes]
rs2114473	0.82[AFR][1000 genomes]
rs2288308	0.88[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[MKK][hapmap];0.83[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs2322688	0.83[ASW][hapmap];0.86[CHD][hapmap];0.82[MEX][hapmap];0.81[MKK][hapmap];0.82[YRI][hapmap]
rs28374411	0.83[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs28524474	0.84[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs28714128	0.83[ASN][1000 genomes]
rs28788006	0.80[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs3764964	0.83[ASW][hapmap];0.84[CEU][hapmap];0.81[CHB][hapmap];0.95[CHD][hapmap];0.82[MEX][hapmap];0.81[MKK][hapmap];0.82[YRI][hapmap];0.84[AFR][1000 genomes]
rs3764965	0.81[CEU][hapmap];0.81[CHB][hapmap];0.93[YRI][hapmap]
rs3764966	0.84[CEU][hapmap];0.81[CHB][hapmap];0.82[YRI][hapmap];0.84[AFR][1000 genomes]
rs3764967	0.90[CHB][hapmap];0.91[CHD][hapmap];0.89[ASN][1000 genomes]
rs3796639	0.89[ASN][1000 genomes]
rs3815872	0.84[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs3816874	0.86[YRI][hapmap]
rs4510461	0.84[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs55794413	1.00[ASN][1000 genomes]
rs55874299	1.00[ASN][1000 genomes]
rs56152829	1.00[ASN][1000 genomes]
rs56237079	0.82[ASN][1000 genomes]
rs57740160	0.83[ASN][1000 genomes]
rs59335491	0.82[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs61790748	0.85[ASN][1000 genomes]
rs62410065	0.89[ASN][1000 genomes]
rs62410092	0.91[ASN][1000 genomes]
rs62410099	1.00[ASN][1000 genomes]
rs62410126	0.89[ASN][1000 genomes]
rs62410129	0.85[ASN][1000 genomes]
rs62410159	0.86[ASN][1000 genomes]
rs62411662	0.82[ASN][1000 genomes]
rs6447974	0.83[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs6447975	0.84[YRI][hapmap]
rs6447976	0.81[CHB][hapmap];0.82[YRI][hapmap]
rs6447978	0.81[MKK][hapmap];0.82[YRI][hapmap]
rs6447982	0.93[YRI][hapmap]
rs6811030	0.88[ASW][hapmap];0.81[CHB][hapmap];0.95[CHD][hapmap];0.81[MKK][hapmap];0.81[TSI][hapmap];0.82[YRI][hapmap];0.83[AFR][1000 genomes]
rs6811505	0.90[CHB][hapmap]
rs6831516	0.85[CHB][hapmap];0.82[YRI][hapmap]
rs725594	0.89[ASN][1000 genomes]
rs73240292	0.89[ASN][1000 genomes]
rs7438098	0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs755155	0.91[ASN][1000 genomes]
rs7655154	0.88[ASW][hapmap];0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[LWK][hapmap];0.88[MEX][hapmap];0.83[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs7666288	0.84[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs7673805	0.83[AFR][1000 genomes]
rs7674453	0.84[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs7681691	0.82[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.85[YRI][hapmap];0.84[AFR][1000 genomes]
rs7689421	0.83[YRI][hapmap]
rs7694208	0.83[YRI][hapmap]
rs7696618	0.84[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs990206	0.81[CHB][hapmap];0.93[YRI][hapmap]
rs9995697	0.84[CEU][hapmap];1.00[CHB][hapmap];0.82[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013077	chr4:20599841-20732558	Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1010145	chr4:20601908-21057992	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv537052	chr4:20601908-21057992	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv1014941	chr4:20611726-21345226	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv537053	chr4:20611726-21345226	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	nsv829876	chr4:20638736-20835621	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10938801	PACRGL	cis	parietal	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:20693400-20701200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:20696200-20700000	Weak transcription	K562	blood

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