Variant report

Variant	rs7686101
Chromosome Location	chr4:79138857-79138858
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs10010118	0.81[TSI][hapmap]
rs10518196	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11098085	0.91[CHD][hapmap];0.83[GIH][hapmap]
rs11098093	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12645741	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12649696	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17003028	0.85[CEU][hapmap];0.85[YRI][hapmap];0.91[EUR][1000 genomes]
rs17003043	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2866994	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2866995	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58427733	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs58661619	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs58889966	0.84[EUR][1000 genomes]
rs60419354	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62308039	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62309967	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs62309968	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534024	chr4:78785189-79437403	ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1009633	chr4:78887573-79652236	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv525530	chr4:79024524-79266563	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv879502	chr4:79052851-79144309	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv1010782	chr4:79057839-79387207	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv999844	chr4:79092549-79165869	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv879503	chr4:79108589-79163162	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv3325085	chr4:79137953-79140501	Weak transcription Enhancers	n/a	n/a	inside rSNPs	diseases
9	esv3352732	chr4:79138228-79140226	Enhancers Weak transcription	n/a	n/a	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7686101	PARM1	cis	parietal	SCAN
rs7686101	PARM1	cis	cerebellum	SCAN
rs7686101	NAA11	cis	parietal	SCAN

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79121600-79139400	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr4:79124200-79139400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr4:79126600-79139200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr4:79129400-79139600	Weak transcription	Pancreas	Pancrea
5	chr4:79131200-79142600	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr4:79131600-79139400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr4:79132800-79139400	Weak transcription	Fetal Intestine Large	intestine
8	chr4:79134600-79139600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr4:79135000-79143400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr4:79136000-79139200	Weak transcription	HepG2	liver
11	chr4:79136200-79139800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr4:79137600-79141000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr4:79137800-79140000	Enhancers	H9 Cell Line	embryonic stem cell
14	chr4:79138200-79139400	Weak transcription	Fetal Heart	heart
15	chr4:79138200-79139400	Weak transcription	Fetal Intestine Small	intestine
16	chr4:79138400-79139400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr4:79138600-79139800	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr4:79138600-79142800	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr4:79138600-79143800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr4:79138800-79139200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr4:79138800-79139200	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr4:79138800-79139200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr4:79138800-79141200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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