Variant report

Variant	rs28412218
Chromosome Location	chr9:136994887-136994888
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:136737938..136739664-chr9:136994862..136997731,2	MCF-7	breast:
2	chr9:136992413..136997235-chr9:136998349..137003411,7	K562	blood:
3	chr9:136994448..136996074-chr9:136999589..137002197,2	K562	blood:

Variant related genes	Relation type
ENSG00000196363	Chromatin interaction
ENSG00000273249	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1128044	0.92[ASN][1000 genomes]
rs11556390	0.95[ASN][1000 genomes]
rs28410119	0.87[ASN][1000 genomes]
rs28415637	0.95[ASN][1000 genomes]
rs28428662	0.96[ASN][1000 genomes]
rs28438574	0.94[ASN][1000 genomes]
rs28473092	0.94[ASN][1000 genomes]
rs28475221	0.95[ASN][1000 genomes]
rs28485659	0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28490920	0.95[ASN][1000 genomes]
rs28508246	0.95[ASN][1000 genomes]
rs28522840	0.93[ASN][1000 genomes]
rs28549758	0.95[ASN][1000 genomes]
rs28567437	0.94[ASN][1000 genomes]
rs28588875	0.95[ASN][1000 genomes]
rs28604373	0.92[ASN][1000 genomes]
rs28610236	0.97[ASN][1000 genomes]
rs28611335	0.91[ASN][1000 genomes]
rs28635910	0.92[ASN][1000 genomes]
rs28637447	0.98[ASN][1000 genomes]
rs28647893	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28648812	0.95[ASN][1000 genomes]
rs28661406	0.98[ASN][1000 genomes]
rs28681320	0.98[ASN][1000 genomes]
rs28695913	0.95[ASN][1000 genomes]
rs28705801	0.97[ASN][1000 genomes]
rs34417824	0.95[ASN][1000 genomes]
rs35401074	0.82[ASN][1000 genomes]
rs35715743	0.95[ASN][1000 genomes]
rs35949820	0.94[ASN][1000 genomes]
rs36185416	0.91[ASN][1000 genomes]
rs4358859	0.87[EUR][1000 genomes]
rs4744560	0.87[EUR][1000 genomes]
rs55874211	0.98[ASN][1000 genomes]
rs7847227	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv894138	chr9:136839840-137093168	Strong transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv825148	chr9:136848471-137025632	Flanking Bivalent TSS/Enh Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1048571	chr9:136872166-137265444	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv894148	chr9:136874066-137093168	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv894151	chr9:136887757-137397609	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
6	nsv6751	chr9:136967475-137007131	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv894155	chr9:136969689-137364866	Active TSS Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
8	esv1793302	chr9:136990615-137390602	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:136990800-136996200	Enhancers	Fetal Muscle Leg	muscle
2	chr9:136991000-136999400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr9:136991200-136996000	Weak transcription	Pancreas	Pancrea
4	chr9:136992800-136996600	Enhancers	Fetal Muscle Trunk	muscle
5	chr9:136993600-136995400	Enhancers	HSMMtube	muscle
6	chr9:136994000-136995200	Enhancers	Esophagus	oesophagus
7	chr9:136994000-136995400	Enhancers	Placenta	Placenta
8	chr9:136994000-136995400	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr9:136994000-136995400	Enhancers	HSMM	muscle
10	chr9:136994200-136995000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr9:136994200-136995000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr9:136994200-136995200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr9:136994200-136995200	Enhancers	Placenta Amnion	Placenta Amnion
14	chr9:136994200-136995400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr9:136994400-136995000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr9:136994400-136995000	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr9:136994400-136995400	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr9:136994400-136995800	Enhancers	HepG2	liver
19	chr9:136994400-136996000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr9:136994400-136996000	Enhancers	Stomach Smooth Muscle	stomach
21	chr9:136994400-136996200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr9:136994400-136996400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr9:136994400-136999400	Weak transcription	Primary B cells from cord blood	blood
24	chr9:136994600-136995200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr9:136994600-136999200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr9:136994600-136999400	Weak transcription	Spleen	Spleen
27	chr9:136994600-136999800	Weak transcription	Primary B cells from peripheral blood	blood
28	chr9:136994800-136996000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr9:136994800-136996000	Enhancers	Hela-S3	cervix
30	chr9:136994800-136996200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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