Variant report

Variant	rs28369881
Chromosome Location	chr1:171170009-171170010
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:171161907..171164775-chr1:171168366..171171218,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10912486	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10912503	0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10912504	0.84[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10912524	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11803918	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11804100	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11806352	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11806405	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11807206	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12133379	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12402732	0.83[EUR][1000 genomes]
rs12408043	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12408253	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12566068	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs16864174	0.95[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs16864177	0.95[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs16864194	0.88[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs16864216	0.83[EUR][1000 genomes]
rs2020863	0.94[EUR][1000 genomes]
rs2049920	0.95[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs2072755	0.95[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs2075988	0.92[EUR][1000 genomes]
rs2179106	0.83[EUR][1000 genomes]
rs2205732	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs28369845	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28369891	0.92[EUR][1000 genomes]
rs28369914	0.95[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs56370691	0.95[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs57305992	0.83[EUR][1000 genomes]
rs61815361	0.83[EUR][1000 genomes]
rs61815421	0.83[EUR][1000 genomes]
rs72714167	0.83[EUR][1000 genomes]
rs7531111	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs9730437	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001228	chr1:170885787-171452579	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
2	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv1005902	chr1:171036690-171254916	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv535203	chr1:171036690-171254916	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
5	esv10193	chr1:171128845-171414611	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv831882	chr1:171166224-171326083	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr1:171156600-171177200	Weak transcription	Esophagus	oesophagus
2	chr1:171156600-171179600	Weak transcription	NHLF	lung
3	chr1:171156800-171179600	Weak transcription	Right Ventricle	heart
4	chr1:171161000-171171800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr1:171165600-171173400	Strong transcription	Left Ventricle	heart
6	chr1:171165800-171174400	Weak transcription	Stomach Mucosa	stomach
7	chr1:171166000-171174600	Weak transcription	Pancreas	Pancrea
8	chr1:171166000-171178000	Weak transcription	Psoas Muscle	Psoas
9	chr1:171166000-171184000	Weak transcription	Gastric	stomach
10	chr1:171166600-171175400	Strong transcription	Adipose Nuclei	Adipose
11	chr1:171167200-171187800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr1:171168400-171170200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr1:171168400-171170400	Strong transcription	Fetal Lung	lung
14	chr1:171168400-171171800	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr1:171168800-171170200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:171169200-171176200	Weak transcription	Lung	lung
17	chr1:171169800-171189800	Weak transcription	Right Atrium	heart
18	chr1:171170000-171170200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr1:171170000-171173800	Strong transcription	Aorta	Aorta

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