Variant report

Variant	rs2273237
Chromosome Location	chr20:23431011-23431012
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	chr20:23429806..23432217-chr20:23436004..23438997,2	K562	blood:
2	chr20:23430353..23432292-chr20:23432999..23435596,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000125831	Chromatin interaction
ENSG00000200208	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10485644	0.96[EUR][1000 genomes]
rs1076777	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1122407	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12624341	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12625257	0.96[EUR][1000 genomes]
rs12625297	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12625468	0.91[EUR][1000 genomes]
rs12625489	0.96[EUR][1000 genomes]
rs12625959	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12625994	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16985303	0.96[EUR][1000 genomes]
rs16985337	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34036626	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3736756	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56393556	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56693860	0.91[EUR][1000 genomes]
rs56725318	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57322153	0.96[EUR][1000 genomes]
rs57896475	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59852988	0.91[EUR][1000 genomes]
rs60799291	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61024391	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61297472	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61344818	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs73901826	0.91[EUR][1000 genomes]
rs73901859	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73901870	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8115832	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8117246	0.91[EUR][1000 genomes]
rs8123389	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8125332	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063655	chr20:23396649-23489730	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv912818	chr20:23406519-23567838	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv912819	chr20:23406519-23569400	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv912820	chr20:23406519-23578148	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv1065390	chr20:23412890-23569238	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv1065719	chr20:23415029-23565333	Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv544214	chr20:23415029-23565333	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
8	nsv470544	chr20:23424638-23569400	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv585722	chr20:23424638-23569400	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
10	nsv458949	chr20:23426648-23569400	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
11	nsv585723	chr20:23426648-23569400	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
12	nsv979404	chr20:23429655-23455778	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
13	nsv1057992	chr20:23430887-23565333	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
14	nsv544215	chr20:23430887-23565333	ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2273237	CSTL1	cis	Esophagus Mucosa	GTEx
rs2273237	CSTL1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23417200-23434800	Weak transcription	Gastric	stomach
2	chr20:23417800-23441000	Weak transcription	Right Atrium	heart
3	chr20:23423000-23432200	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr20:23423800-23432200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr20:23427800-23431600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr20:23429600-23431200	Enhancers	Fetal Thymus	thymus
7	chr20:23430400-23436200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr20:23430600-23435200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr20:23430800-23432000	Weak transcription	Primary T cells from cord blood	blood

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