Variant report

Variant	rs1964463
Chromosome Location	chr2:114069021-114069022
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:114067489..114069342-chr2:114085282..114087156,2	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12615370	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12616641	0.82[AMR][1000 genomes]
rs56163359	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62158161	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62158163	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62158166	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62158168	0.82[AMR][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	nsv508162	chr2:113983043-114099966	Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv874901	chr2:114022569-114079565	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv998204	chr2:114023917-114075446	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv2762785	chr2:114044712-114081784	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1964463	LOC654433	cis	parietal	SCAN
rs1964463	IL1F10	cis	parietal	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114064600-114082000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:114066200-114072200	Weak transcription	Psoas Muscle	Psoas
3	chr2:114066400-114073000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr2:114067400-114069600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:114067600-114072200	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr2:114068000-114069200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr2:114068000-114069400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr2:114068000-114072400	Weak transcription	HSMMtube	muscle
9	chr2:114068000-114072600	Weak transcription	NHDF-Ad	bronchial
10	chr2:114068000-114072800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr2:114068200-114069200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr2:114068200-114069200	Weak transcription	HSMM	muscle
13	chr2:114068200-114071400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:114068200-114071600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:114068200-114071800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr2:114068400-114071600	Weak transcription	NHEK	skin
17	chr2:114068400-114072000	Weak transcription	HMEC	breast
18	chr2:114068600-114069600	Enhancers	Primary hematopoietic stem cells	blood
19	chr2:114068800-114069200	Enhancers	A549	lung
20	chr2:114068800-114069600	Enhancers	Fetal Intestine Small	intestine

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