Variant report

Variant	rs458575
Chromosome Location	chr11:72330467-72330468
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	MAX	chr11:72330465-72330724	K562	blood:	n/a	chr11:72330664-72330674 chr11:72330605-72330612

No.	Distal block	Cell Line	Cell type
1	chr11:72329455..72332319-chr11:72346728..72350252,3	MCF-7	breast:
2	chr11:72326146..72327953-chr11:72330233..72332676,2	K562	blood:
3	chr11:72325568..72327953-chr11:72330233..72332258,3	K562	blood:
4	chr11:72317260..72319196-chr11:72329466..72332421,2	MCF-7	breast:

Variant related genes	Relation type
MIR139	TF binding region
RNU7-105P	TF binding region
ENSG00000186642	Chromatin interaction
ENSG00000272036	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10793036	0.85[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.90[GIH][hapmap];0.94[JPT][hapmap];0.87[TSI][hapmap];0.87[ASN][1000 genomes]
rs11235546	0.82[ASN][1000 genomes]
rs11235551	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235556	0.87[ASN][1000 genomes]
rs11235559	0.81[CHB][hapmap]
rs1135029	0.94[CHB][hapmap];0.81[CHD][hapmap];0.87[JPT][hapmap]
rs12146545	0.81[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs12276767	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12363065	0.81[CHB][hapmap]
rs12576058	0.81[CHB][hapmap]
rs12797791	0.85[CHB][hapmap];0.92[JPT][hapmap];0.89[ASN][1000 genomes]
rs1391888	0.81[CHB][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs1467135	0.94[CHB][hapmap];0.81[CHD][hapmap];0.87[JPT][hapmap]
rs163694	0.81[CHB][hapmap]
rs1872126	0.81[CHB][hapmap]
rs189332	0.81[CHB][hapmap]
rs1980089	0.88[CHB][hapmap];0.81[CHD][hapmap];0.87[JPT][hapmap]
rs1980090	0.88[CHB][hapmap];0.81[CHD][hapmap];0.87[JPT][hapmap]
rs2035467	0.81[CHB][hapmap]
rs341049	0.94[CHB][hapmap];0.87[JPT][hapmap]
rs341051	0.89[ASN][1000 genomes]
rs341052	0.86[CHB][hapmap];0.93[JPT][hapmap];0.89[ASN][1000 genomes]
rs341053	0.81[CHB][hapmap]
rs341061	0.80[CHB][hapmap]
rs341086	0.94[CHB][hapmap];0.92[CHD][hapmap];0.81[GIH][hapmap];0.94[JPT][hapmap];0.86[ASN][1000 genomes]
rs341088	0.87[ASN][1000 genomes]
rs3781913	0.81[CHB][hapmap]
rs3781916	0.80[CHB][hapmap]
rs3781939	0.94[CHB][hapmap];0.89[CHD][hapmap];0.87[JPT][hapmap]
rs3825009	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs401801	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs455611	0.90[ASN][1000 genomes]
rs456405	1.00[CHB][hapmap];0.93[JPT][hapmap];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs458275	0.87[CHB][hapmap];0.87[CHD][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs4943939	0.94[CHB][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs56133505	0.89[ASN][1000 genomes]
rs61895571	0.87[ASN][1000 genomes]
rs61895572	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7119321	0.90[ASN][1000 genomes]
rs90409	1.00[CHB][hapmap];0.93[JPT][hapmap];0.86[ASN][1000 genomes]
rs907853	0.87[ASN][1000 genomes]
rs907854	0.87[ASN][1000 genomes]
rs907856	0.84[ASN][1000 genomes]
rs907857	0.84[ASN][1000 genomes]
rs907858	0.84[ASN][1000 genomes]
rs932074	0.86[ASN][1000 genomes]
rs932075	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1794740	chr11:72021720-72332931	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases
2	esv1806140	chr11:72268466-72546175	Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	77 gene(s)	inside rSNPs	diseases
3	esv1832864	chr11:72270965-72389125	Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
4	nsv832207	chr11:72272750-72469122	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases
5	nsv468633	chr11:72281884-72336564	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
6	nsv468634	chr11:72281884-72336564	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
7	nsv555406	chr11:72281884-72336564	Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
8	nsv523601	chr11:72281884-72430935	Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
9	nsv468635	chr11:72284569-72336564	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
10	nsv555407	chr11:72284569-72336564	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
11	nsv1042182	chr11:72294042-72348491	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
12	nsv825991	chr11:72320642-72385221	Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
13	esv3394774	chr11:72320884-72694077	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72323800-72331600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
2	chr11:72324200-72331400	Enhancers	Fetal Brain Male	brain
3	chr11:72324400-72331000	Enhancers	Brain Inferior Temporal Lobe	brain
4	chr11:72324800-72331200	Enhancers	Brain Cingulate Gyrus	brain
5	chr11:72325600-72331400	Enhancers	Adipose Nuclei	Adipose
6	chr11:72326200-72331600	Weak transcription	Primary B cells from cord blood	blood
7	chr11:72326600-72331400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr11:72326600-72332800	Genic enhancers	Spleen	Spleen
9	chr11:72327200-72330600	Enhancers	Duodenum Smooth Muscle	Duodenum
10	chr11:72327200-72330800	Enhancers	Fetal Stomach	stomach
11	chr11:72327600-72335600	Weak transcription	Esophagus	oesophagus
12	chr11:72328200-72330600	Enhancers	Fetal Lung	lung
13	chr11:72328800-72331200	Enhancers	Right Ventricle	heart
14	chr11:72328800-72331200	Enhancers	Skeletal Muscle Male	skeletal muscle
15	chr11:72329000-72330600	Enhancers	Rectal Smooth Muscle	rectum
16	chr11:72329200-72330600	Enhancers	Colon Smooth Muscle	Colon
17	chr11:72329200-72335400	Weak transcription	Fetal Brain Female	brain
18	chr11:72329200-72335600	Weak transcription	Brain Substantia Nigra	brain
19	chr11:72329400-72331000	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr11:72329400-72334200	Weak transcription	Right Atrium	heart
21	chr11:72329400-72335800	Weak transcription	Brain Hippocampus Middle	brain
22	chr11:72329600-72330800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr11:72329600-72332200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr11:72329600-72332400	Weak transcription	Lung	lung
25	chr11:72329600-72335400	Weak transcription	Brain Anterior Caudate	brain
26	chr11:72329600-72335400	Weak transcription	Duodenum Mucosa	Duodenum
27	chr11:72329600-72336000	Weak transcription	Brain Germinal Matrix	brain
28	chr11:72330000-72330600	Enhancers	Fetal Muscle Trunk	muscle
29	chr11:72330000-72330800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr11:72330000-72331000	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr11:72330000-72334800	Weak transcription	Left Ventricle	heart
32	chr11:72330200-72330800	Enhancers	Stomach Smooth Muscle	stomach
33	chr11:72330200-72331200	Enhancers	Brain Angular Gyrus	brain

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