Variant report

Variant	rs619671
Chromosome Location	chr18:11961189-11961190
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	chr18:11961001..11963298-chr18:11980089..11982172,2	K562	blood:

Variant related genes	Relation type
ENSG00000141401	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1662602	0.86[ASN][1000 genomes]
rs16976875	0.83[CHB][hapmap];0.81[JPT][hapmap]
rs1787984	0.81[CEU][hapmap];0.80[TSI][hapmap]
rs28377581	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28482939	0.88[ASN][1000 genomes]
rs28493661	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28561563	0.85[ASN][1000 genomes]
rs28673951	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3865368	0.89[CHB][hapmap];0.89[CHD][hapmap];0.81[JPT][hapmap]
rs4455029	0.89[CHB][hapmap];0.86[CHD][hapmap];0.85[JPT][hapmap]
rs4797605	0.87[ASN][1000 genomes]
rs58116004	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs584373	0.84[ASN][1000 genomes]
rs585247	0.87[ASN][1000 genomes]
rs610541	0.96[LWK][hapmap];0.81[MKK][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes]
rs62097454	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62097455	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs664217	0.86[CEU][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs679246	0.83[ASW][hapmap]
rs694039	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8083728	0.85[ASN][1000 genomes]
rs8088851	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8091268	0.81[AFR][1000 genomes]
rs8098914	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs971363	0.83[CHB][hapmap];0.86[CHD][hapmap];0.81[JPT][hapmap]
rs9960943	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	esv2758470	chr18:11897023-12076102	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers 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	35 gene(s)	inside rSNPs	diseases
4	esv2758713	chr18:11897023-12076102	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
5	nsv909384	chr18:11907374-12101109	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
6	nsv1063339	chr18:11909588-11979264	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	nsv576495	chr18:11917410-11986557	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
8	nsv909385	chr18:11938102-11986557	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
9	nsv909386	chr18:11938102-12095950	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
10	nsv909387	chr18:11953187-11986557	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases
11	esv3333226	chr18:11960827-11963125	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11952200-11962400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr18:11952200-11964000	Weak transcription	Fetal Muscle Trunk	muscle
3	chr18:11958000-11962600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr18:11958600-11962400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr18:11958800-11962400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr18:11960600-11961200	Enhancers	Hela-S3	cervix
7	chr18:11960600-11961400	Enhancers	HepG2	liver
8	chr18:11960800-11961200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr18:11960800-11961200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr18:11960800-11961200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr18:11960800-11961200	Enhancers	Pancreas	Pancrea
12	chr18:11960800-11961400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr18:11960800-11961400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr18:11960800-11961400	Enhancers	K562	blood
15	chr18:11961000-11961200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr18:11961000-11961200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr18:11961000-11961200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr18:11961000-11962200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr18:11961000-11962400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr18:11961000-11962400	Weak transcription	NHEK	skin
21	chr18:11961000-11963800	Weak transcription	HUES6 Cell Line	embryonic stem cell

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