Variant report

Variant	rs861577
Chromosome Location	chr1:184725621-184725622
allele	G/T
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	MXI1	chr1:184722533-184725625	SK-N-SH	brain:	n/a	chr1:184724823-184724832
2	CUX1	chr1:184723849-184725665	K562	blood:	n/a	n/a
3	HCFC1	chr1:184722571-184725624	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:184722993..184726139-chr1:185013897..185016469,4	K562	blood:

Variant related genes	Relation type
EDEM3	TF binding region
ENSG00000121481	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs1040666	0.86[ASN][1000 genomes]
rs1046239	0.84[ASN][1000 genomes]
rs1062994	0.81[EUR][1000 genomes]
rs10752941	0.87[ASN][1000 genomes]
rs10911633	0.81[EUR][1000 genomes]
rs10911634	0.82[EUR][1000 genomes]
rs10911636	0.82[EUR][1000 genomes]
rs10911640	0.84[ASN][1000 genomes]
rs10911644	0.83[EUR][1000 genomes]
rs10911645	0.84[EUR][1000 genomes]
rs11808675	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12031028	0.84[EUR][1000 genomes]
rs12043236	0.86[ASN][1000 genomes]
rs12071631	0.87[ASN][1000 genomes]
rs12124929	0.84[EUR][1000 genomes]
rs12126231	0.82[EUR][1000 genomes]
rs12133128	0.84[EUR][1000 genomes]
rs12184284	0.81[EUR][1000 genomes]
rs12567225	0.82[EUR][1000 genomes]
rs12567226	0.82[EUR][1000 genomes]
rs2024765	0.81[ASN][1000 genomes]
rs2024767	0.87[ASN][1000 genomes]
rs2064605	0.84[EUR][1000 genomes]
rs2207733	0.86[ASN][1000 genomes]
rs2333715	0.83[EUR][1000 genomes]
rs2333716	0.87[ASN][1000 genomes]
rs3736757	0.86[ASN][1000 genomes]
rs3895196	0.93[ASN][1000 genomes]
rs4469687	0.86[ASN][1000 genomes]
rs4651230	0.83[EUR][1000 genomes]
rs6663178	0.83[ASN][1000 genomes]
rs6677073	0.84[ASN][1000 genomes]
rs67359172	0.84[EUR][1000 genomes]
rs7523023	0.86[ASN][1000 genomes]
rs7525074	0.86[ASN][1000 genomes]
rs861575	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs861576	0.90[EUR][1000 genomes]
rs861579	0.92[ASN][1000 genomes]
rs861582	0.93[ASN][1000 genomes]
rs861583	0.89[EUR][1000 genomes]
rs9425339	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9425341	0.81[ASN][1000 genomes]
rs9425343	0.81[EUR][1000 genomes]
rs9425633	0.84[ASN][1000 genomes]
rs9658937	0.84[ASN][1000 genomes]
rs9661314	0.84[ASN][1000 genomes]
rs971081	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv832037	chr1:184568194-184756597	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv917126	chr1:184655366-184902273	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv832048	chr1:184660146-184858802	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer 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 miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv1009529	chr1:184663898-184731215	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs861577	EDEM3	Cis_1M	lymphoblastoid	RTeQTL
rs861577	EDEM3	cis	Artery Tibial	GTEx

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184724600-184728800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr1:184724800-184742600	Weak transcription	Gastric	stomach
3	chr1:184725000-184725800	Weak transcription	Pancreas	Pancrea
4	chr1:184725000-184728400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:184725200-184726200	Enhancers	Liver	Liver
6	chr1:184725200-184727200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr1:184725200-184728600	Weak transcription	Fetal Intestine Small	intestine
8	chr1:184725200-184728800	Weak transcription	HSMMtube	muscle
9	chr1:184725200-184731200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr1:184725400-184725800	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr1:184725400-184725800	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr1:184725400-184725800	Enhancers	HepG2	liver
13	chr1:184725400-184730000	Enhancers	Stomach Mucosa	stomach
14	chr1:184725600-184727000	Enhancers	K562	blood
15	chr1:184725600-184728200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:184725600-184728400	Weak transcription	A549	lung
17	chr1:184725600-184728600	Weak transcription	Rectal Mucosa Donor 29	rectum

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