Variant report

Variant	rs1800760
Chromosome Location	chr4:100065626-100065627
allele	A/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	FOXA1	chr4:100065178-100065661	HepG2	liver:	n/a	n/a
2	ELF1	chr4:100065306-100065641	HepG2	liver:	n/a	n/a
3	SP1	chr4:100065308-100065651	HepG2	liver:	n/a	n/a
4	CEBPB	chr4:100065319-100065653	HepG2	liver:	n/a	chr4:100065485-100065498 chr4:100065485-100065498 chr4:100065485-100065496
5	TEAD4	chr4:100065085-100065817	HepG2	liver:	n/a	n/a
6	HNF4A	chr4:100065370-100065641	HepG2	liver:	n/a	n/a
7	HEY1	chr4:100065137-100065663	HepG2	liver:	n/a	n/a
8	HNF4A	chr4:100065366-100065729	HepG2	liver:	n/a	n/a
9	EP300	chr4:100065135-100065752	HepG2	liver:	n/a	chr4:100065506-100065515 chr4:100065502-100065516 chr4:100065508-100065522
10	CEBPB	chr4:100065301-100065731	HepG2	liver:	n/a	chr4:100065485-100065498 chr4:100065485-100065498 chr4:100065485-100065496
11	SMC3	chr4:100065262-100065626	HepG2	liver:	n/a	n/a
12	MYBL2	chr4:100065192-100065729	HepG2	liver:	n/a	n/a
13	FOXA1	chr4:100065202-100065682	HepG2	liver:	n/a	n/a
14	MYBL2	chr4:100065042-100065797	HepG2	liver:	n/a	n/a
15	HNF4G	chr4:100065361-100065690	HepG2	liver:	n/a	n/a
16	CEBPB	chr4:100065337-100065723	HepG2	liver:	n/a	chr4:100065485-100065498 chr4:100065485-100065498 chr4:100065485-100065496
17	EP300	chr4:100065256-100065685	HepG2	liver:	n/a	chr4:100065506-100065515 chr4:100065502-100065516 chr4:100065508-100065522
18	NFIC	chr4:100065161-100065801	HepG2	liver:	n/a	n/a
19	EP300	chr4:100065360-100065665	HepG2	liver:	n/a	chr4:100065506-100065515 chr4:100065502-100065516 chr4:100065508-100065522
20	TBP	chr4:100065265-100065629	HepG2	liver:	n/a	n/a
21	HEY1	chr4:100065082-100065636	HepG2	liver:	n/a	n/a
22	FOXA1	chr4:100065166-100065663	HepG2	liver:	n/a	n/a
23	HNF4A	chr4:100065346-100065773	HepG2	liver:	n/a	n/a
24	POLR2A	chr4:100064772-100065667	HepG2	liver:	n/a	n/a
25	ARID3A	chr4:100065108-100065911	HepG2	liver:	n/a	n/a
26	FOXA1	chr4:100065191-100065740	HepG2	liver:	n/a	n/a
27	HDAC2	chr4:100065226-100065648	HepG2	liver:	n/a	chr4:100065508-100065522

Variant related genes	Relation type
ADH4	TF binding region

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10000357	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10009145	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10015824	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10020052	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10030920	0.83[ASN][1000 genomes]
rs1154402	0.83[AFR][1000 genomes]
rs1154404	0.93[AFR][1000 genomes]
rs1154415	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs11724783	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1311621	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs13121905	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13127586	0.84[AFR][1000 genomes]
rs13148577	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1869458	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1893883	0.83[ASN][1000 genomes]
rs2000864	0.83[ASN][1000 genomes]
rs2187483	0.83[ASN][1000 genomes]
rs2602852	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2602861	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2602871	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2851264	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2851275	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28720150	0.83[ASN][1000 genomes]
rs28762430	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28848249	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2903166	0.83[ASN][1000 genomes]
rs34195655	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34511427	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3828541	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3857224	0.83[ASN][1000 genomes]
rs4147544	0.83[ASN][1000 genomes]
rs4147545	0.81[ASN][1000 genomes]
rs4147547	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4148886	1.00[ASN][1000 genomes]
rs4333190	0.83[ASN][1000 genomes]
rs4577585	0.84[AFR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4585310	0.83[ASN][1000 genomes]
rs62325498	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6833176	0.83[ASN][1000 genomes]
rs9307238	0.83[ASN][1000 genomes]
rs9994326	0.86[AFR][1000 genomes];0.91[EUR][1000 genomes];0.87[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	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:19 , 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	chr4:100062600-100065800	Active TSS	Duodenum Mucosa	Duodenum
4	chr4:100063600-100066600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr4:100063800-100066600	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr4:100064000-100065800	Active TSS	Liver	Liver
7	chr4:100064000-100082600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr4:100064600-100066600	Enhancers	Fetal Intestine Small	intestine
9	chr4:100065000-100066600	Enhancers	Fetal Intestine Large	intestine
10	chr4:100065200-100065800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr4:100065200-100066000	Enhancers	Adipose Nuclei	Adipose
12	chr4:100065400-100066000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr4:100065400-100066200	Weak transcription	Small Intestine	intestine
14	chr4:100065600-100066600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr4:100065600-100067000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr4:100065600-100067400	Enhancers	HepG2	liver
17	chr4:100065600-100068200	Weak transcription	Brain Cingulate Gyrus	brain
18	chr4:100065600-100071600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr4:100065600-100096600	Weak transcription	Fetal Lung	lung

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