Variant report

Variant	rs3101201
Chromosome Location	chr1:221607065-221607066
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10779435	0.90[ASN][1000 genomes]
rs12563549	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3101193	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3101194	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3101195	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3101198	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3131534	0.87[ASN][1000 genomes]
rs3131535	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3131538	0.90[ASN][1000 genomes]
rs3131539	0.91[ASN][1000 genomes]
rs73100432	0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9659195	0.93[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	nsv997685	chr1:220993527-221863416	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv535299	chr1:220993527-221863416	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221602800-221608600	Weak transcription	NHDF-Ad	bronchial
2	chr1:221603800-221609800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:221604800-221608600	Weak transcription	NHLF	lung
4	chr1:221604800-221612800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:221605000-221608400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:221605000-221608600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr1:221605000-221609000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:221605000-221609000	Weak transcription	Osteobl	bone
9	chr1:221605000-221611400	Weak transcription	A549	lung
10	chr1:221605200-221608600	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr1:221605200-221608600	Weak transcription	HUVEC	blood vessel
12	chr1:221605200-221611400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr1:221605400-221611400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:221605400-221611400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr1:221605600-221609000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr1:221605800-221612400	Weak transcription	Fetal Heart	heart
17	chr1:221605800-221613600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr1:221606000-221608200	Weak transcription	Rectal Smooth Muscle	rectum
19	chr1:221606200-221613400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr1:221606600-221608400	Weak transcription	Colon Smooth Muscle	Colon
21	chr1:221606800-221608200	Weak transcription	Hela-S3	cervix

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