Variant report

Variant	rs531612
Chromosome Location	chr11:65705432-65705433
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	chr11:65704384..65705897-chr11:65711287..65713410,2	K562	blood:
2	chr11:65702981..65706998-chr11:65711447..65715062,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175513	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1151505	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1192168	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1204649	0.85[EUR][1000 genomes]
rs12361552	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12797319	0.84[EUR][1000 genomes]
rs1308733	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs470192	0.86[EUR][1000 genomes]
rs491973	0.86[EUR][1000 genomes]
rs493899	0.81[EUR][1000 genomes]
rs501353	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs503524	0.81[EUR][1000 genomes]
rs528736	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs542332	0.81[EUR][1000 genomes]
rs550435	0.84[EUR][1000 genomes]
rs552130	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs556643	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55928757	0.82[EUR][1000 genomes]
rs590318	0.83[EUR][1000 genomes]
rs593525	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs606978	0.86[EUR][1000 genomes]
rs617791	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61893932	0.82[EUR][1000 genomes]
rs624273	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs642293	0.86[EUR][1000 genomes]
rs660118	0.86[EUR][1000 genomes]
rs679581	0.81[EUR][1000 genomes]
rs688862	0.83[AMR][1000 genomes];0.98[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	nsv430401	chr11:65419324-65788024	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases
2	esv2758274	chr11:65559893-65722363	Genic enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
3	esv2759834	chr11:65559893-65722363	Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
4	nsv427890	chr11:65559893-65722363	Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
5	nsv897761	chr11:65580638-65738566	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	186 gene(s)	inside rSNPs	diseases
6	nsv897762	chr11:65613218-65758854	Active TSS Flanking Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	185 gene(s)	inside rSNPs	diseases
7	nsv897765	chr11:65623708-65758854	Strong transcription Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
8	nsv832191	chr11:65632329-65806120	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
9	esv3444925	chr11:65687425-65714023	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
10	nsv948711	chr11:65692760-65949674	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65688800-65715000	Weak transcription	Right Atrium	heart
2	chr11:65691200-65708600	Weak transcription	HSMM	muscle
3	chr11:65694000-65708200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr11:65699800-65708600	Weak transcription	GM12878-XiMat	blood
5	chr11:65699800-65712600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:65700000-65712600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr11:65700200-65705800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr11:65700400-65707800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr11:65700400-65708600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr11:65702000-65708000	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr11:65702600-65708200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr11:65705000-65705600	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr11:65705000-65705600	Enhancers	H9 Cell Line	embryonic stem cell
14	chr11:65705000-65705600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr11:65705000-65705800	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr11:65705000-65706000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:65705000-65706000	Enhancers	K562	blood
18	chr11:65705000-65706200	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr11:65705400-65708800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr11:65705400-65708800	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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