Variant report

Variant	rs28369845
Chromosome Location	chr1:171162060-171162061
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:171157094..171159925-chr1:171161242..171162761,2	K562	blood:
2	chr1:171161907..171164775-chr1:171168366..171171218,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10912486	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs10912503	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs10912504	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10912524	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11803918	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11804100	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11806352	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11806405	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11807206	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12133379	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12402732	0.83[EUR][1000 genomes]
rs12408043	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12408253	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs12566068	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs16864174	0.94[EUR][1000 genomes]
rs16864177	0.94[EUR][1000 genomes]
rs16864194	0.94[EUR][1000 genomes]
rs16864216	0.83[EUR][1000 genomes]
rs2020863	0.94[EUR][1000 genomes]
rs2049920	0.94[EUR][1000 genomes]
rs2072755	0.94[EUR][1000 genomes]
rs2075988	0.92[EUR][1000 genomes]
rs2179106	0.83[EUR][1000 genomes]
rs2205732	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs28369881	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28369891	0.92[EUR][1000 genomes]
rs28369914	0.94[EUR][1000 genomes]
rs56370691	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	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs9730437	0.88[AMR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171156400-171165800	Weak transcription	Gastric	stomach
2	chr1:171156600-171163800	Weak transcription	Small Intestine	intestine
3	chr1:171156600-171169800	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr1:171156600-171177200	Weak transcription	Esophagus	oesophagus
5	chr1:171156600-171179600	Weak transcription	NHLF	lung
6	chr1:171156800-171179600	Weak transcription	Right Ventricle	heart
7	chr1:171157800-171165600	Weak transcription	Ovary	ovary
8	chr1:171158200-171167000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr1:171158400-171165600	Weak transcription	Fetal Lung	lung
10	chr1:171159000-171165800	Weak transcription	Lung	lung
11	chr1:171160000-171164800	Weak transcription	Fetal Intestine Small	intestine
12	chr1:171160000-171165000	Weak transcription	Duodenum Mucosa	Duodenum
13	chr1:171160200-171166800	Weak transcription	Fetal Brain Male	brain
14	chr1:171160600-171163600	Weak transcription	Fetal Intestine Large	intestine
15	chr1:171161000-171165800	Weak transcription	Aorta	Aorta
16	chr1:171161000-171171800	Weak transcription	Stomach Smooth Muscle	stomach
17	chr1:171161200-171162600	Enhancers	Right Atrium	heart
18	chr1:171161200-171163600	Weak transcription	Left Ventricle	heart
19	chr1:171161200-171165000	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr1:171161800-171164200	Weak transcription	Liver	Liver
21	chr1:171161800-171165000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr1:171162000-171162200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr1:171162000-171162200	Weak transcription	Adipose Nuclei	Adipose
24	chr1:171162000-171163400	Enhancers	Stomach Mucosa	stomach

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