Variant report

Variant	rs2298993
Chromosome Location	chr4:110895113-110895114
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	ARID3A	chr4:110894662-110895165	HepG2	liver:	n/a	n/a
2	FOXA1	chr4:110894332-110895130	HepG2	liver:	n/a	n/a
3	FOXA2	chr4:110894445-110895219	HepG2	liver:	n/a	n/a
4	FOXA1	chr4:110894301-110895282	HepG2	liver:	n/a	n/a
5	FOXA1	chr4:110894667-110895125	HepG2	liver:	n/a	n/a
6	MYBL2	chr4:110894613-110895164	HepG2	liver:	n/a	n/a
7	NFIC	chr4:110894636-110895157	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:110888945..110892290-chr4:110892815..110895828,3	MCF-7	breast:

Variant related genes	Relation type
EGF	TF binding region
ENSG00000138798	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10014805	0.80[EUR][1000 genomes]
rs10017564	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11098057	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11568904	0.84[AMR][1000 genomes]
rs12503113	0.85[EUR][1000 genomes]
rs12506489	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12506702	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12510173	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12640600	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1860129	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2074390	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2190907	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2237049	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2237051	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2237052	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2237053	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2282784	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2298978	0.85[EUR][1000 genomes]
rs2298979	0.85[EUR][1000 genomes]
rs2298983	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2298989	0.99[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2298991	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2298992	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2347137	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2881559	0.85[EUR][1000 genomes]
rs3796944	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3796948	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4444903	0.83[EUR][1000 genomes]
rs6533482	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6533483	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6824594	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7692976	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs882405	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs882471	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs929446	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530156	chr4:110721397-110911297	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110860600-110906600	Weak transcription	Psoas Muscle	Psoas
2	chr4:110875600-110909800	Weak transcription	Pancreas	Pancrea
3	chr4:110885800-110897200	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr4:110885800-110909800	Weak transcription	Left Ventricle	heart
5	chr4:110890400-110900800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:110891200-110900000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr4:110891600-110895400	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr4:110891600-110896400	Weak transcription	Spleen	Spleen
9	chr4:110891800-110900000	Weak transcription	Primary hematopoietic stem cells	blood
10	chr4:110893800-110909600	Weak transcription	Fetal Heart	heart
11	chr4:110894000-110895600	Enhancers	Fetal Intestine Large	intestine
12	chr4:110894800-110895800	Enhancers	HepG2	liver
13	chr4:110894800-110896000	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr4:110894800-110900000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr4:110894800-110900800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr4:110895000-110899600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr4:110895000-110899600	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr4:110895000-110899600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr4:110895000-110900000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr4:110895000-110900800	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr4:110895000-110909600	Weak transcription	Fetal Intestine Small	intestine
22	chr4:110895000-110928600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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