Variant report

Variant	rs4148883
Chromosome Location	chr4:100066332-100066333
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	SP2	chr4:100066242-100066490	K562	blood:	n/a	n/a
2	CTCF	chr4:100066280-100066430	NHLF	lung:	n/a	chr4:100066395-100066402

Variant related genes	Relation type
ADH4	TF binding region

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10008281	0.81[CHD][hapmap]
rs10032099	0.98[ASN][1000 genomes]
rs11722561	0.94[EUR][1000 genomes]
rs1312200	1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs13148577	0.91[GIH][hapmap]
rs1540053	0.88[ASW][hapmap];0.88[YRI][hapmap]
rs17028609	0.99[ASN][1000 genomes]
rs1800761	1.00[ASN][1000 genomes]
rs1869458	0.82[GIH][hapmap]
rs2032348	1.00[ASN][1000 genomes]
rs2851275	0.82[GIH][hapmap]
rs2851301	0.82[GIH][hapmap]
rs3762894	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4140388	0.93[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4148887	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4148888	1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs4699726	0.93[EUR][1000 genomes]
rs60652198	0.92[ASN][1000 genomes]
rs62323588	0.92[ASN][1000 genomes]
rs62323606	0.90[ASN][1000 genomes]
rs62325477	1.00[ASN][1000 genomes]
rs6850191	0.94[ASN][1000 genomes]
rs9995799	0.81[CHD][hapmap]

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	nsv1009017	chr4:99669441-100406394	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv1002927	chr4:99952472-100148690	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv879656	chr4:99976646-100533722	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv1005446	chr4:99988287-100121669	Strong transcription Enhancers ZNF genes & repeats Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv537196	chr4:99988287-100121669	Strong transcription ZNF genes & repeats Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv1002574	chr4:100023999-100133693	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	esv3528915	chr4:100025155-100096234	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	esv3528916	chr4:100025155-100096234	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:100035000-100098200	Weak transcription	Ovary	ovary
2	chr4:100056800-100082600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr4:100063600-100066600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr4:100063800-100066600	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr4:100064000-100082600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr4:100064600-100066600	Enhancers	Fetal Intestine Small	intestine
7	chr4:100065000-100066600	Enhancers	Fetal Intestine Large	intestine
8	chr4:100065600-100066600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr4:100065600-100067000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr4:100065600-100067400	Enhancers	HepG2	liver
11	chr4:100065600-100068200	Weak transcription	Brain Cingulate Gyrus	brain
12	chr4:100065600-100071600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:100065600-100096600	Weak transcription	Fetal Lung	lung
14	chr4:100066000-100068600	Weak transcription	Duodenum Mucosa	Duodenum
15	chr4:100066200-100066400	Enhancers	Small Intestine	intestine
16	chr4:100066200-100083200	Enhancers	Liver	Liver

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