Variant report

Variant	rs4930361
Chromosome Location	chr11:66154306-66154307
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ELF1	chr11:66154257-66154481	K562	blood:	n/a	chr11:66154364-66154377
2	CTCF	chr11:66153360-66154772	A549	lung:	n/a	chr11:66153814-66153835 chr11:66153812-66153830 chr11:66153815-66153828 chr11:66153813-66153829
3	CTCF	chr11:66154200-66154350	RPTEC	kidney:	n/a	n/a
4	CTCF	chr11:66154260-66154410	HMEC	breast:	n/a	n/a
5	CTCF	chr11:66154180-66154330	HCFaa	heart:	n/a	n/a
6	CTCF	chr11:66153431-66154388	HCT-116	colon:	n/a	chr11:66153814-66153835 chr11:66153812-66153830 chr11:66153815-66153828 chr11:66153813-66153829
7	POLR2A	chr11:66153956-66154868	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:66152365..66155241-chr11:66220899..66223250,2	K562	blood:
2	chr11:66138046..66140971-chr11:66152140..66155072,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254736	TF binding region
ENSG00000174669	Chromatin interaction
ENSG00000254596	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1039593	1.00[EUR][1000 genomes]
rs10750785	1.00[EUR][1000 genomes]
rs10750787	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10791871	1.00[EUR][1000 genomes]
rs10791875	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10791877	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1189692	1.00[EUR][1000 genomes]
rs1190627	1.00[EUR][1000 genomes]
rs1190628	1.00[EUR][1000 genomes]
rs1190630	1.00[EUR][1000 genomes]
rs1203483	1.00[EUR][1000 genomes]
rs12281049	1.00[EUR][1000 genomes]
rs1320675	1.00[EUR][1000 genomes]
rs1532823	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1566871	1.00[EUR][1000 genomes]
rs1621469	1.00[EUR][1000 genomes]
rs1700188	1.00[EUR][1000 genomes]
rs1784030	1.00[EUR][1000 genomes]
rs1784035	1.00[EUR][1000 genomes]
rs1785623	1.00[EUR][1000 genomes]
rs1785624	1.00[EUR][1000 genomes]
rs1785636	1.00[EUR][1000 genomes]
rs1791677	1.00[EUR][1000 genomes]
rs3016763	1.00[EUR][1000 genomes]
rs3132761	1.00[EUR][1000 genomes]
rs35599411	1.00[EUR][1000 genomes]
rs3850949	1.00[EUR][1000 genomes]
rs3867130	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4290235	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4930358	1.00[EUR][1000 genomes]
rs4930359	1.00[EUR][1000 genomes]
rs4930364	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4930367	1.00[EUR][1000 genomes]
rs495264	1.00[EUR][1000 genomes]
rs525698	1.00[EUR][1000 genomes]
rs670900	1.00[EUR][1000 genomes]
rs7104297	1.00[EUR][1000 genomes]
rs7105162	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7125100	1.00[EUR][1000 genomes]
rs7130857	1.00[EUR][1000 genomes]
rs7131396	1.00[EUR][1000 genomes]
rs71457730	1.00[EUR][1000 genomes]
rs908693	1.00[EUR][1000 genomes]
rs948359	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3335923	chr11:65741698-66175759	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	esv3407551	chr11:65794503-66158322	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
3	esv3392427	chr11:65981489-66273695	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
4	nsv897771	chr11:66011280-66362997	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
5	nsv897772	chr11:66018155-66254085	Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
6	nsv897780	chr11:66083129-66362997	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
7	nsv832193	chr11:66120339-66278805	Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66153600-66154400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr11:66153600-66154400	Enhancers	Esophagus	oesophagus
3	chr11:66153600-66154400	Enhancers	Fetal Thymus	thymus
4	chr11:66154000-66154400	Bivalent Enhancer	Fetal Muscle Leg	muscle
5	chr11:66154000-66154400	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr11:66154000-66154600	Active TSS	Brain Anterior Caudate	brain
7	chr11:66154000-66154600	Enhancers	Colonic Mucosa	Colon
8	chr11:66154200-66154400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr11:66154200-66154400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr11:66154200-66154400	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr11:66154200-66154400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
12	chr11:66154200-66154400	Active TSS	Primary T killer memory cells from peripheral blood	blood
13	chr11:66154200-66154400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr11:66154200-66154400	Enhancers	Adipose Nuclei	Adipose
15	chr11:66154200-66154400	Enhancers	Brain Cingulate Gyrus	brain
16	chr11:66154200-66154400	Enhancers	Brain Hippocampus Middle	brain
17	chr11:66154200-66154400	Enhancers	Hela-S3	cervix
18	chr11:66154200-66154400	Enhancers	K562	blood
19	chr11:66154200-66154600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr11:66154200-66154600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr11:66154200-66154600	Enhancers	Stomach Mucosa	stomach
22	chr11:66154200-66154600	Bivalent Enhancer	HepG2	liver
23	chr11:66154200-66154600	Enhancers	NHEK	skin
24	chr11:66154200-66156200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr11:66154200-66156200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr11:66154200-66156200	Weak transcription	Placenta	Placenta
27	chr11:66154200-66156400	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr11:66154200-66158400	Weak transcription	Primary B cells from peripheral blood	blood
29	chr11:66154200-66161400	Weak transcription	A549	lung

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