Variant report

Variant	rs4847320
Chromosome Location	chr1:95103150-95103151
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs10782984	0.86[EUR][1000 genomes]
rs11165185	0.87[CEU][hapmap];0.85[MEX][hapmap]
rs1539151	0.87[CEU][hapmap];0.82[TSI][hapmap];0.85[EUR][1000 genomes]
rs1539622	0.87[CEU][hapmap];0.85[MEX][hapmap]
rs1539623	0.87[CEU][hapmap]
rs1620835	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17111912	0.87[CEU][hapmap];0.89[GIH][hapmap];0.91[TSI][hapmap];0.85[EUR][1000 genomes]
rs1778196	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1778218	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2226095	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2794489	0.93[ASN][1000 genomes]
rs2971938	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2996285	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2996288	0.93[ASN][1000 genomes]
rs35360343	0.86[EUR][1000 genomes]
rs3814017	0.87[CEU][hapmap]
rs7550601	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001587	chr1:95027691-95318680	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
2	nsv519997	chr1:95083836-95113417	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1001230	chr1:95085184-95108531	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1910	chr1:95100383-95111872	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4847320	KIAA1107	cis	parietal	SCAN
rs4847320	SNORD21	cis	parietal	SCAN
rs4847320	MTF2	cis	parietal	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95095800-95108400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:95099800-95111600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr1:95100000-95103200	Enhancers	NHEK	skin
4	chr1:95100400-95103200	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr1:95100400-95103200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:95100400-95103400	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr1:95100600-95103200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
8	chr1:95100600-95103200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr1:95100600-95103200	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr1:95100800-95110600	Weak transcription	NH-A	brain
11	chr1:95100800-95112000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr1:95101000-95103600	Weak transcription	Primary neutrophils fromperipheralblood	blood
13	chr1:95101400-95103200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:95101400-95103200	Enhancers	Hela-S3	cervix
15	chr1:95101400-95107200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr1:95101400-95107200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr1:95101400-95108200	Weak transcription	Placenta	Placenta
18	chr1:95102000-95109800	Weak transcription	Pancreas	Pancrea
19	chr1:95102400-95107000	Weak transcription	Stomach Mucosa	stomach
20	chr1:95102400-95109200	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr1:95102600-95111800	Weak transcription	HSMMtube	muscle
22	chr1:95102800-95106800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr1:95102800-95107200	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr1:95102800-95108400	Weak transcription	Fetal Intestine Small	intestine
25	chr1:95103000-95106800	Weak transcription	HMEC	breast
26	chr1:95103000-95107400	Weak transcription	Lung	lung

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