Variant report

Variant	rs491364
Chromosome Location	chr8:9758230-9758231
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:1)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:9755502..9758474-chr8:9759081..9761841,2	K562	blood:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP1L1-5	chr8:9758065-9758710	ENSG00000253230
2	lnc-RP1L1-5	chr8:9757574-9760907	ENSG00000253230
3	lnc-RP1L1-5	chr8:9758199-9760839	ENSG00000253230
4	lnc-RP1L1-5	chr8:9758199-9760888	NONHSAT124969
5	lnc-RP1L1-5	chr8:9758199-9760897	NONHSAT124970
6	lnc-RP1L1-5	chr8:9758065-9760897	NONHSAT124971

No data

Variant related genes	Relation type
ENSG00000253230	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10098618	0.81[EUR][1000 genomes]
rs10104236	0.83[EUR][1000 genomes]
rs10108550	0.83[EUR][1000 genomes]
rs11987861	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12056944	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12543685	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12543996	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12544019	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12545481	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12546952	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12548011	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12549629	0.85[EUR][1000 genomes]
rs13252210	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs13270146	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17150693	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1962430	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2055729	0.86[CEU][hapmap]
rs4841254	0.88[CEU][hapmap]
rs506276	0.90[CEU][hapmap]
rs531564	1.00[ASW][hapmap]
rs592420	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];0.89[CHD][hapmap];0.83[GIH][hapmap];0.90[JPT][hapmap];0.91[TSI][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59880252	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs612689	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62489486	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62489489	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62489493	0.81[AFR][1000 genomes]
rs6601389	0.83[EUR][1000 genomes]
rs6601390	0.81[EUR][1000 genomes]
rs6601393	0.83[EUR][1000 genomes]
rs6981023	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6989793	0.81[EUR][1000 genomes]
rs6990268	0.83[EUR][1000 genomes]
rs6996932	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7828229	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530864	chr8:9097498-9914548	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS 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	39 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs491364	MFHAS1	cis	cerebellum	SCAN
rs491364	PPP1R3B	cis	lymphoblastoid	seeQTL
rs491364	PRSS55	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9757200-9758800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:9757200-9759200	Enhancers	H9 Cell Line	embryonic stem cell
3	chr8:9757200-9759800	Enhancers	H1 Cell Line	embryonic stem cell
4	chr8:9757400-9759800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
5	chr8:9757600-9759000	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr8:9757600-9759600	Flanking Active TSS	Fetal Brain Male	brain
7	chr8:9757600-9760000	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
8	chr8:9757800-9758400	Enhancers	Brain Anterior Caudate	brain
9	chr8:9757800-9759800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
10	chr8:9757800-9759800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
11	chr8:9757800-9761000	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
12	chr8:9758000-9758800	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
13	chr8:9758000-9759000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
14	chr8:9758000-9759400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
15	chr8:9758000-9760200	Active TSS	Brain Inferior Temporal Lobe	brain
16	chr8:9758000-9761600	Active TSS	Brain Angular Gyrus	brain
17	chr8:9758200-9758600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr8:9758200-9758600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
19	chr8:9758200-9759000	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr8:9758200-9760200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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