Variant report

Variant	rs4073491
Chromosome Location	chr2:47587137-47587138
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	ZNF384	chr2:47586357-47587203	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:47586945..47591052-chr2:47593988..47597569,4	K562	blood:
2	chr2:47402103..47403966-chr2:47586998..47589266,2	K562	blood:

Variant related genes	Relation type
RN7SKP119	TF binding region
ENSG00000143933	Chromatin interaction
ENSG00000119888	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10173799	0.84[AMR][1000 genomes]
rs12999725	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1863333	0.80[AMR][1000 genomes]
rs2303426	0.80[AMR][1000 genomes]
rs3815865	0.80[AMR][1000 genomes]
rs3924917	0.87[ASN][1000 genomes]
rs4399763	0.97[ASN][1000 genomes]
rs4952885	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62139705	0.81[AMR][1000 genomes]
rs6544987	0.81[AMR][1000 genomes]
rs7587478	0.81[AMR][1000 genomes]
rs7587654	0.80[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv531348	chr2:47433147-47827310	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv999576	chr2:47506116-47773960	Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv524003	chr2:47543245-47590034	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv581756	chr2:47552706-47590930	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv1009586	chr2:47552706-47621487	Strong transcription Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47578200-47589600	Enhancers	Fetal Intestine Small	intestine
2	chr2:47580200-47589600	Enhancers	Fetal Intestine Large	intestine
3	chr2:47580600-47588400	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr2:47582400-47588200	Weak transcription	NHDF-Ad	bronchial
5	chr2:47584800-47587600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr2:47584800-47588200	Weak transcription	HMEC	breast
7	chr2:47584800-47588400	Weak transcription	NHEK	skin
8	chr2:47585000-47587600	Weak transcription	A549	lung
9	chr2:47585000-47587600	Weak transcription	Osteobl	bone
10	chr2:47585000-47588000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr2:47585000-47588200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr2:47585000-47588200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:47585000-47588400	Weak transcription	NH-A	brain
14	chr2:47585200-47587600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:47586400-47587200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
16	chr2:47586600-47587400	Enhancers	Duodenum Mucosa	Duodenum
17	chr2:47586600-47589000	Enhancers	Stomach Mucosa	stomach
18	chr2:47587000-47587600	Enhancers	HepG2	liver
19	chr2:47587000-47588200	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr2:47587000-47590000	Enhancers	K562	blood
21	chr2:47587000-47595600	Weak transcription	Colonic Mucosa	Colon

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