Variant report

Variant	rs7549613
Chromosome Location	chr1:186136289-186136290
allele	C/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	CEBPB	chr1:186136211-186136704	A549	lung:	n/a	chr1:186136417-186136426 chr1:186136415-186136428 chr1:186136417-186136426 chr1:186136417-186136426
2	CEBPB	chr1:186136241-186136609	IMR90	lung:	n/a	chr1:186136417-186136426 chr1:186136415-186136428 chr1:186136417-186136426 chr1:186136417-186136426
3	CEBPB	chr1:186136265-186136558	HepG2	liver:	n/a	chr1:186136417-186136426 chr1:186136415-186136428 chr1:186136417-186136426 chr1:186136417-186136426
4	CEBPB	chr1:186136235-186136873	K562	blood:	n/a	chr1:186136417-186136426 chr1:186136415-186136428 chr1:186136417-186136426 chr1:186136417-186136426

Variant related genes	Relation type
HMCN1	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10911836	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11579683	0.93[ASN][1000 genomes]
rs11582026	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11583483	0.93[ASN][1000 genomes]
rs12123389	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1322376	1.00[CHB][hapmap]
rs16825040	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2208692	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2383457	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56138834	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs56267286	0.89[EUR][1000 genomes]
rs6425021	1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6673026	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7552106	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7554865	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7554872	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs911743	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3424090	chr1:185679718-186270877	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv1004481	chr1:186095854-186750968	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv535223	chr1:186095854-186750968	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186114600-186160800	Weak transcription	Fetal Kidney	kidney
2	chr1:186133200-186137400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr1:186133600-186160800	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr1:186133800-186147800	Weak transcription	Left Ventricle	heart
5	chr1:186134000-186137200	Strong transcription	Adipose Nuclei	Adipose
6	chr1:186134600-186136800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:186134600-186139600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:186134600-186152200	Weak transcription	NH-A	brain
9	chr1:186134800-186139800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:186134800-186147000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:186135000-186146400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:186135000-186147800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:186135200-186137000	Strong transcription	Liver	Liver
14	chr1:186135400-186136800	Strong transcription	Aorta	Aorta
15	chr1:186135600-186137000	Enhancers	K562	blood
16	chr1:186136200-186136600	Weak transcription	Ovary	ovary
17	chr1:186136200-186138000	Weak transcription	Lung	lung
18	chr1:186136200-186152400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr1:186136200-186153200	Weak transcription	Fetal Lung	lung
20	chr1:186136200-186157600	Weak transcription	Duodenum Smooth Muscle	Duodenum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links