Variant report

Variant	rs12123422
Chromosome Location	chr1:95102527-95102528
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10082010	0.84[ASN][1000 genomes]
rs11577320	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12401721	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12402912	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1343480	0.84[ASN][1000 genomes]
rs2211318	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2996284	0.84[ASN][1000 genomes]
rs4847324	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9645363	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][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

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95090000-95102800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr1:95095800-95108400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:95099400-95102800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:95099400-95102800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:95099600-95102800	Weak transcription	NHDF-Ad	bronchial
6	chr1:95099800-95111600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:95100000-95103200	Enhancers	NHEK	skin
8	chr1:95100200-95103000	Enhancers	HMEC	breast
9	chr1:95100400-95102800	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr1:95100400-95102800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:95100400-95103000	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr1:95100400-95103200	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr1:95100400-95103200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:95100400-95103400	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr1:95100600-95103000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:95100600-95103200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr1:95100600-95103200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr1:95100600-95103200	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr1:95100800-95110600	Weak transcription	NH-A	brain
20	chr1:95100800-95112000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr1:95101000-95103600	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr1:95101400-95102800	Enhancers	Placenta Amnion	Placenta Amnion
23	chr1:95101400-95103200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr1:95101400-95103200	Enhancers	Hela-S3	cervix
25	chr1:95101400-95107200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr1:95101400-95107200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr1:95101400-95108200	Weak transcription	Placenta	Placenta
28	chr1:95101800-95103000	Enhancers	NHLF	lung
29	chr1:95102000-95102600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr1:95102000-95102600	Enhancers	Muscle Satellite Cultured Cells	--
31	chr1:95102000-95109800	Weak transcription	Pancreas	Pancrea
32	chr1:95102200-95102800	Enhancers	Fetal Intestine Small	intestine
33	chr1:95102400-95102600	Enhancers	HSMMtube	muscle
34	chr1:95102400-95103000	Enhancers	Lung	lung
35	chr1:95102400-95107000	Weak transcription	Stomach Mucosa	stomach
36	chr1:95102400-95109200	Weak transcription	Rectal Mucosa Donor 31	rectum

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