Variant report

Variant	rs4963222
Chromosome Location	chr11:64184735-64184736
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	11:64184313-64187414..11:64519906-64523887	Hela-S3	cervix:
2	11:64184313-64187414..11:64426650-64437729	K562	blood:
3	11:64184313-64187414..11:64402707-64415880	GM12878	blood:
4	11:64184313-64187414..11:64642645-64655002	K562	blood:
5	11:64184313-64187414..11:64530985-64535815	GM12878	blood:
6	11:64184313-64187414..11:64538326-64543055	GM12878	blood:
7	11:64184313-64187414..11:64489786-64499245	GM12878	blood:
8	11:64184313-64187414..11:64535815-64538326	K562	blood:
9	11:64184313-64187414..11:64523887-64530985	Hela-S3	cervix:
10	11:64184313-64187414..11:64356433-64395036	GM12878	blood:
11	11:64184313-64187414..11:64415880-64426617	GM12878	blood:
12	11:64184313-64187414..11:64501239-64517861	GM12878	blood:
13	11:64184313-64187414..11:64517861-64519906	GM12878	blood:
14	11:64184313-64187414..11:64322633-64349180	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000197891	Chromatin interaction
ENSG00000230835	Chromatin interaction
ENSG00000110076	Chromatin interaction
ENSG00000110047	Chromatin interaction
ENSG00000237410	Chromatin interaction
ENSG00000068831	Chromatin interaction
ENSG00000168065	Chromatin interaction
ENSG00000068976	Chromatin interaction
ENSG00000168066	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10897491	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10897504	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11231787	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11231789	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11601686	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11603861	0.91[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11605289	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12791477	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1320628	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs488909	0.84[EUR][1000 genomes]
rs4930168	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4930175	0.91[CEU][hapmap];0.91[CHB][hapmap];0.90[CHD][hapmap];0.82[GIH][hapmap];0.82[JPT][hapmap];0.84[MEX][hapmap];0.89[TSI][hapmap];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4963223	1.00[CEU][hapmap];0.91[CHB][hapmap];0.82[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs506594	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs508326	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs570024	0.90[CEU][hapmap];0.80[EUR][1000 genomes]
rs596308	0.83[CEU][hapmap]
rs7127926	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72927984	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs750830	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs750832	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7933523	0.83[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	nsv832187	chr11:64121969-64312300	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	esv3373822	chr11:64182426-64184924	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
3	nsv976458	chr11:64183936-64198230	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv976459	chr11:64183936-64208134	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs4963222	RNASEH2C	cis	parietal	SCAN
rs4963222	TUT1	cis	parietal	SCAN
rs4963222	CCS	cis	cerebellum	SCAN
rs4963222	SSSCA1	cis	parietal	SCAN
rs4963222	FKBP2	cis	cerebellum	SCAN

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64182800-64196000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr11:64183600-64186000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:64183800-64186600	Weak transcription	Placenta	Placenta

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