Variant report

Variant	rs614330
Chromosome Location	chr11:65590225-65590226
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:65587777..65590458-chr11:65595251..65598434,3	MCF-7	breast:
2	chr11:65484705..65486413-chr11:65588483..65590495,2	K562	blood:
3	chr11:65478815..65481669-chr11:65588844..65590802,2	K562	blood:
4	chr11:65588417..65591084-chr11:65617236..65619160,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000172977	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1048924	1.00[EUR][1000 genomes]
rs1078458	1.00[EUR][1000 genomes]
rs10896054	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1151504	1.00[EUR][1000 genomes]
rs1151520	1.00[EUR][1000 genomes]
rs12275175	1.00[EUR][1000 genomes]
rs12283972	1.00[EUR][1000 genomes]
rs12294096	1.00[EUR][1000 genomes]
rs12294241	1.00[EUR][1000 genomes]
rs12294549	1.00[EUR][1000 genomes]
rs12721573	1.00[EUR][1000 genomes]
rs1647569	1.00[EUR][1000 genomes]
rs34035680	1.00[EUR][1000 genomes]
rs35194319	1.00[EUR][1000 genomes]
rs500667	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs508328	1.00[EUR][1000 genomes]
rs548709	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs551115	1.00[EUR][1000 genomes]
rs551986	1.00[EUR][1000 genomes]
rs56663613	1.00[EUR][1000 genomes]
rs56990327	1.00[EUR][1000 genomes]
rs601314	1.00[EUR][1000 genomes]
rs604630	1.00[EUR][1000 genomes]
rs613953	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs624067	0.88[AFR][1000 genomes]
rs641323	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs669300	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7106444	1.00[EUR][1000 genomes]
rs7115662	1.00[EUR][1000 genomes]
rs7124858	1.00[EUR][1000 genomes]
rs72556578	1.00[EUR][1000 genomes]
rs73492420	1.00[EUR][1000 genomes]
rs73492424	1.00[EUR][1000 genomes]
rs73492432	1.00[EUR][1000 genomes]
rs7934992	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	nsv897736	chr11:65335705-65676516	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	227 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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
7	nsv555215	chr11:65581579-65676516	Strong transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	165 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65585800-65600200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr11:65585800-65600600	Weak transcription	Small Intestine	intestine
3	chr11:65586000-65591200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:65586200-65594400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr11:65588400-65591400	Enhancers	Colonic Mucosa	Colon
6	chr11:65588800-65590600	Weak transcription	Liver	Liver
7	chr11:65589000-65590600	Weak transcription	Pancreas	Pancrea
8	chr11:65589000-65590800	Weak transcription	Gastric	stomach
9	chr11:65589000-65594200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:65589000-65594600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr11:65589200-65590800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr11:65590000-65590400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
13	chr11:65590000-65590400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
14	chr11:65590000-65590800	Flanking Active TSS	Fetal Intestine Small	intestine
15	chr11:65590200-65590400	Flanking Active TSS	Fetal Intestine Large	intestine
16	chr11:65590200-65591000	Bivalent Enhancer	HepG2	liver
17	chr11:65590200-65591400	Flanking Active TSS	Duodenum Mucosa	Duodenum
18	chr11:65590200-65591400	Enhancers	Stomach Mucosa	stomach

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