Variant report

Variant	rs35953019
Chromosome Location	chr5:43205198-43205199
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr5:43205160-43205310	HEK293	kidney:	n/a	chr5:43205261-43205279
2	CTCF	chr5:43205198-43205299	GM10248	blood:	n/a	chr5:43205261-43205279
3	CTCF	chr5:43205140-43205290	GM12866	blood:	n/a	chr5:43205261-43205279
4	CTCF	chr5:43205180-43205330	Hela-S3	cervix:	n/a	chr5:43205261-43205279
5	CTCF	chr5:43205111-43205402	K562	blood:	n/a	chr5:43205261-43205279
6	CTCF	chr5:43205110-43205443	K562	blood:	n/a	chr5:43205261-43205279
7	RAD21	chr5:43205157-43205368	HepG2	liver:	n/a	chr5:43205262-43205281
8	RAD21	chr5:43205145-43205393	H1-hESC	embryonic stem cell:	n/a	chr5:43205262-43205281
9	CTCF	chr5:43205160-43205330	HepG2	liver:	n/a	chr5:43205261-43205279
10	CTCF	chr5:43205120-43205270	MCF-7	breast:	n/a	n/a
11	CTCF	chr5:43205185-43205347	K562	blood:	n/a	chr5:43205261-43205279
12	CTCF	chr5:43205080-43205230	K562	blood:	n/a	n/a
13	CTCF	chr5:43205174-43205369	K562	blood:	n/a	chr5:43205261-43205279
14	CTCF	chr5:43205120-43205270	GM12874	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:43203439..43205261-chr5:43211567..43213375,3	K562	blood:

Variant related genes	Relation type
ENSG00000249779	TF binding region

Extended variants
information (count: 55 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10041458	0.99[ASN][1000 genomes]
rs10044382	0.81[ASN][1000 genomes]
rs10044563	0.94[ASN][1000 genomes]
rs10058374	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10070751	0.81[ASN][1000 genomes]
rs10074873	0.90[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs10075647	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs10078527	0.82[CHB][hapmap];0.94[JPT][hapmap];0.92[YRI][hapmap]
rs10214190	0.83[ASN][1000 genomes]
rs10805667	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10941607	0.87[JPT][hapmap]
rs10941608	0.80[CHB][hapmap];0.87[JPT][hapmap]
rs11740797	0.80[CHB][hapmap];0.94[JPT][hapmap]
rs11748187	0.80[CHB][hapmap];0.94[JPT][hapmap]
rs12109075	0.92[ASW][hapmap];0.88[CHD][hapmap];0.93[LWK][hapmap];0.96[YRI][hapmap]
rs12189053	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13153462	0.94[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs13665	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs1532331	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap]
rs1670791	0.89[ASN][1000 genomes]
rs17301375	0.94[JPT][hapmap]
rs316398	0.81[JPT][hapmap]
rs316405	0.80[CHB][hapmap];0.94[JPT][hapmap]
rs316411	0.94[JPT][hapmap]
rs33910990	0.90[ASN][1000 genomes]
rs3733839	0.80[CHB][hapmap];0.94[JPT][hapmap]
rs4498259	0.83[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.85[MKK][hapmap];0.92[YRI][hapmap];0.81[ASN][1000 genomes]
rs4866808	0.81[ASN][1000 genomes]
rs541143	0.93[JPT][hapmap]
rs6414900	0.83[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs6451674	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap]
rs6451675	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap]
rs670206	0.80[CHB][hapmap];0.94[JPT][hapmap]
rs67913249	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6862639	0.83[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.83[MKK][hapmap];0.92[YRI][hapmap];0.81[ASN][1000 genomes]
rs6864955	0.81[ASN][1000 genomes]
rs6871636	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.96[YRI][hapmap];0.87[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs6876746	0.81[ASN][1000 genomes]
rs6884303	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap]
rs6887997	0.83[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs6894506	0.82[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap]
rs7701510	0.92[ASW][hapmap];0.82[CHB][hapmap];0.94[CHD][hapmap];0.81[JPT][hapmap];0.93[LWK][hapmap];0.96[YRI][hapmap];0.83[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs7704132	0.94[ASN][1000 genomes]
rs7716136	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7723426	0.80[ASN][1000 genomes]
rs7729529	0.94[JPT][hapmap]
rs7730004	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv993554	chr5:42720939-43251863	Bivalent/Poised TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	298 gene(s)	inside rSNPs	diseases
2	nsv462126	chr5:42728831-43237188	Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
3	nsv597925	chr5:42728831-43237188	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
4	nsv1023741	chr5:42768215-43348145	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
5	nsv537737	chr5:42768215-43348145	Genic enhancers Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
6	nsv1024636	chr5:42959979-43295782	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
7	nsv537739	chr5:42959979-43295782	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
8	nsv830274	chr5:43095551-43226087	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	138 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs35953019	ZNF131	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43195000-43209000	Weak transcription	Brain Substantia Nigra	brain
2	chr5:43196200-43208800	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr5:43196200-43245400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr5:43196400-43208800	Weak transcription	Brain Angular Gyrus	brain
5	chr5:43196400-43208800	Weak transcription	Brain Hippocampus Middle	brain
6	chr5:43196400-43208800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr5:43196400-43209200	Weak transcription	Brain Cingulate Gyrus	brain
8	chr5:43198600-43208800	Weak transcription	Brain Anterior Caudate	brain
9	chr5:43203600-43208600	Weak transcription	Stomach Mucosa	stomach
10	chr5:43203600-43208800	Weak transcription	K562	blood
11	chr5:43203800-43208000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr5:43204000-43207200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr5:43204000-43207800	Weak transcription	Osteobl	bone
14	chr5:43205000-43205200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr5:43205000-43205600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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