Variant report

Variant	rs4371220
Chromosome Location	chr18:11839871-11839872
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:11835732..11838374-chr18:11839010..11841922,2	K562	blood:
2	chr18:11838569..11843162-chr18:11849397..11853446,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000267165	Chromatin interaction
ENSG00000255112	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1249628	1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16976742	1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16976749	1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3885902	1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5018698	0.91[ASN][1000 genomes]
rs5018699	0.91[ASN][1000 genomes]
rs5018701	0.91[ASN][1000 genomes]
rs5018702	0.91[ASN][1000 genomes]
rs5018703	0.91[ASN][1000 genomes]
rs5018704	0.91[ASN][1000 genomes]
rs61462499	0.91[ASN][1000 genomes]
rs62097389	1.00[ASN][1000 genomes]
rs715688	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7228231	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7241172	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7241199	1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs7241336	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73409587	0.91[ASN][1000 genomes]
rs73409590	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73944918	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73944920	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3362008	chr18:11647654-11959830	Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv833590	chr18:11757329-11924539	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv1055453	chr18:11776790-12110135	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
4	nsv543654	chr18:11776790-12110135	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11825400-11849800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr18:11830800-11849000	Weak transcription	A549	lung
3	chr18:11831800-11842600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr18:11835200-11840000	Weak transcription	Fetal Heart	heart
5	chr18:11837400-11849200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr18:11837400-11849200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr18:11839600-11840000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr18:11839600-11840200	Enhancers	HepG2	liver
9	chr18:11839600-11841200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr18:11839800-11840400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr18:11839800-11841000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived

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