Variant report

Variant	rs58619916
Chromosome Location	chr22:29872160-29872161
allele	C/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	EBF1	chr22:29872119-29872506	GM12878	blood:	n/a	n/a
2	REST	chr22:29872075-29872536	HepG2	liver:	n/a	chr22:29872314-29872323
3	REST	chr22:29872104-29872504	Hela-S3	cervix:	n/a	chr22:29872314-29872323
4	REST	chr22:29872124-29872510	SK-N-SH	brain:	n/a	chr22:29872314-29872323
5	REST	chr22:29872027-29872522	U87	brain:	n/a	chr22:29872314-29872323
6	REST	chr22:29872076-29872650	MCF-7	breast:	n/a	chr22:29872314-29872323
7	REST	chr22:29872102-29872698	SK-N-SH	brain:	n/a	chr22:29872314-29872323
8	REST	chr22:29872123-29872566	PANC-1	pancreas:	n/a	chr22:29872314-29872323
9	REST	chr22:29872139-29872529	HCT-116	colon:	n/a	chr22:29872314-29872323
10	TEAD4	chr22:29872064-29872469	A549	lung:	n/a	n/a
11	SIN3A	chr22:29872159-29872478	H1-hESC	embryonic stem cell:	n/a	n/a
12	EBF1	chr22:29871492-29872436	GM12878	blood:	n/a	chr22:29871742-29871755 chr22:29871743-29871754 chr22:29871744-29871753
13	REST	chr22:29872109-29872513	K562	blood:	n/a	chr22:29872314-29872323
14	REST	chr22:29872117-29872555	PFSK-1	brain:	n/a	chr22:29872314-29872323
15	REST	chr22:29872145-29872560	Hela-S3	cervix:	n/a	chr22:29872314-29872323
16	REST	chr22:29872036-29872550	H1-hESC	embryonic stem cell:	n/a	chr22:29872314-29872323
17	CTCF	chr22:29872100-29872250	GM12872	blood:	n/a	n/a
18	REST	chr22:29872077-29872537	HL-60	blood:	n/a	chr22:29872314-29872323
19	REST	chr22:29871980-29872506	GM12878	blood:	n/a	chr22:29872314-29872323
20	REST	chr22:29871867-29873198	ECC-1	luminal epithelium:	n/a	chr22:29872314-29872323
21	REST	chr22:29871835-29873293	ECC-1	luminal epithelium:	n/a	chr22:29872314-29872323
22	REST	chr22:29871995-29872652	MCF-7	breast:	n/a	chr22:29872314-29872323
23	REST	chr22:29871980-29872657	A549	lung:	n/a	chr22:29872314-29872323
24	REST	chr22:29871983-29872785	HL-60	blood:	n/a	chr22:29872314-29872323
25	REST	chr22:29872096-29872604	PANC-1	pancreas:	n/a	chr22:29872314-29872323
26	REST	chr22:29872031-29872646	PFSK-1	brain:	n/a	chr22:29872314-29872323
27	REST	chr22:29872153-29872439	PFSK-1	brain:	n/a	chr22:29872314-29872323
28	REST	chr22:29872131-29872569	HCT-116	colon:	n/a	chr22:29872314-29872323
29	REST	chr22:29872102-29872489	A549	lung:	n/a	chr22:29872314-29872323
30	REST	chr22:29872120-29872463	PANC-1	pancreas:	n/a	chr22:29872314-29872323
31	REST	chr22:29872027-29872524	U87	brain:	n/a	chr22:29872314-29872323
32	REST	chr22:29872087-29872565	H1-hESC	embryonic stem cell:	n/a	chr22:29872314-29872323
33	REST	chr22:29872155-29872438	K562	blood:	n/a	chr22:29872314-29872323
34	REST	chr22:29872159-29872422	PANC-1	pancreas:	n/a	chr22:29872314-29872323

Variant related genes	Relation type
NEFH	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs165627	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs165865	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs174712	0.88[ASN][1000 genomes]
rs174719	0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs380350	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs420395	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7511168	0.89[ASN][1000 genomes]
rs8140270	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv529742	chr22:29677909-30274388	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv1058156	chr22:29772043-30024013	Strong transcription Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv544675	chr22:29772043-30024013	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv1062373	chr22:29826745-30092448	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv544676	chr22:29826745-30092448	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
7	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
8	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
9	nsv1062039	chr22:29854861-29889201	Flanking Active TSS Bivalent/Poised TSS Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
10	nsv438344	chr22:29856079-29886043	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29861600-29873200	Weak transcription	Brain Anterior Caudate	brain
2	chr22:29866400-29873000	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr22:29866800-29872400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr22:29868000-29873600	Weak transcription	Brain Substantia Nigra	brain
5	chr22:29868200-29873400	Weak transcription	Fetal Intestine Small	intestine
6	chr22:29868200-29874200	Weak transcription	Ovary	ovary
7	chr22:29868400-29874200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr22:29869200-29873600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr22:29869200-29873600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr22:29869200-29873600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr22:29869400-29872200	Weak transcription	Brain Angular Gyrus	brain
12	chr22:29869400-29872200	Weak transcription	Brain Germinal Matrix	brain
13	chr22:29870600-29873600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr22:29870600-29873800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr22:29871200-29872200	Enhancers	Primary B cells from cord blood	blood
16	chr22:29871200-29872400	Enhancers	Primary B cells from peripheral blood	blood
17	chr22:29871400-29872800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
18	chr22:29871600-29874400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr22:29872000-29872800	Strong transcription	Fetal Brain Female	brain
20	chr22:29872000-29873000	Bivalent Enhancer	GM12878-XiMat	blood

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