Variant report

Variant	rs11655536
Chromosome Location	chr17:45315486-45315487
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:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:45315467..45317488-chr17:45387881..45390169,2	MCF-7	breast:
2	chr17:45307818..45310249-chr17:45315269..45317004,2	K562	blood:
3	chr17:45314938..45317861-chr17:45328572..45331526,2	K562	blood:
4	chr17:45223999..45225599-chr17:45315426..45317942,2	K562	blood:
5	chr17:45305837..45309008-chr17:45313405..45315818,4	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MYL4-3	chr17:45315447-45315746	NONHSAT054292

No data

Variant related genes	Relation type
ENSG00000259753	Chromatin interaction
ENSG00000259207	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 7 )

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

rs_ID	r²[population]
rs11651477	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11652097	0.85[CHB][hapmap]
rs11656425	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34944718	0.91[AFR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35333244	0.91[AFR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56920279	0.91[AFR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58403709	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58917354	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68013139	0.80[EUR][1000 genomes];1.00[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	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv521092	chr17:45309693-45317499	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs11655536	ITGB3	cis	parietal	SCAN
rs11655536	SOST	cis	parietal	SCAN
rs11655536	C17orf88	cis	parietal	SCAN
rs11655536	KPNB1	cis	parietal	SCAN
rs11655536	OSBPL7	cis	cerebellum	SCAN
rs11655536	PLEKHH3	cis	cerebellum	SCAN
rs11655536	NMT1	cis	cerebellum	SCAN

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45304200-45316600	Weak transcription	Left Ventricle	heart
2	chr17:45307800-45316400	Weak transcription	Fetal Heart	heart
3	chr17:45307800-45317200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr17:45308000-45316800	Weak transcription	HSMMtube	muscle
5	chr17:45308200-45317000	Weak transcription	Fetal Muscle Trunk	muscle
6	chr17:45309000-45316600	Weak transcription	Hela-S3	cervix
7	chr17:45310800-45316800	Weak transcription	K562	blood
8	chr17:45314000-45316000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr17:45314000-45316000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr17:45314000-45316400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr17:45314200-45316600	Weak transcription	Right Atrium	heart
12	chr17:45314200-45317000	Weak transcription	Right Ventricle	heart
13	chr17:45314200-45330200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr17:45314800-45315600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr17:45314800-45315600	ZNF genes & repeats	Fetal Intestine Small	intestine
16	chr17:45314800-45316600	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr17:45315000-45316200	Weak transcription	Fetal Muscle Leg	muscle
18	chr17:45315000-45316600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr17:45315200-45316000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
20	chr17:45315200-45316200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr17:45315400-45316400	Weak transcription	HUVEC	blood vessel
22	chr17:45315400-45316800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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