Variant report

Variant	rs55859249
Chromosome Location	chr11:68386714-68386715
allele	A/G
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	POLR2A	chr11:68386695-68386892	MCF-7	breast:	n/a	n/a
2	POLR2A	chr11:68386407-68386806	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ENSG00000260808	TF binding region
ENSG00000266854	TF binding region

Extended variants
information (count: 36 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11824970	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11828144	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2017727	1.00[EUR][1000 genomes]
rs2155729	1.00[EUR][1000 genomes]
rs2513276	1.00[EUR][1000 genomes]
rs2924677	1.00[EUR][1000 genomes]
rs34009811	1.00[AMR][1000 genomes]
rs3867142	1.00[EUR][1000 genomes]
rs495137	1.00[EUR][1000 genomes]
rs55748366	1.00[AMR][1000 genomes]
rs55932241	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56014941	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56715418	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56748492	1.00[EUR][1000 genomes]
rs57488954	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57557564	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57669893	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59876914	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60170908	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7120407	1.00[EUR][1000 genomes]
rs7121045	1.00[EUR][1000 genomes]
rs73511095	1.00[EUR][1000 genomes]
rs73513277	1.00[EUR][1000 genomes]
rs754418	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7936958	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7937163	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3431317	chr11:68282676-68411867	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	esv3478641	chr11:68282679-68411856	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	esv3478652	chr11:68282679-68411856	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	esv3425206	chr11:68282708-68411817	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	esv3511614	chr11:68282726-68411806	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	esv3511615	chr11:68282726-68411806	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	esv3348204	chr11:68282891-68411839	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
8	nsv832195	chr11:68286383-68474611	Strong transcription Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
9	nsv430403	chr11:68297201-68448324	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
10	nsv897864	chr11:68367007-68453429	Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:68380800-68391200	Weak transcription	K562	blood
2	chr11:68383000-68387200	Weak transcription	HepG2	liver
3	chr11:68383400-68387400	Weak transcription	Ovary	ovary
4	chr11:68383800-68386800	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr11:68383800-68386800	Weak transcription	NHEK	skin
6	chr11:68384000-68387200	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr11:68384200-68389000	Weak transcription	Stomach Smooth Muscle	stomach
8	chr11:68384200-68389400	Weak transcription	Duodenum Mucosa	Duodenum
9	chr11:68384400-68387200	Weak transcription	HSMMtube	muscle
10	chr11:68384400-68387400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr11:68384400-68387400	Weak transcription	Esophagus	oesophagus
12	chr11:68384400-68387400	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr11:68384400-68387600	Weak transcription	Spleen	Spleen
14	chr11:68384600-68387200	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr11:68384600-68387400	Weak transcription	Primary B cells from cord blood	blood
16	chr11:68384800-68387600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:68385400-68387000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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