Variant report

Variant	rs57806150
Chromosome Location	chr11:72318072-72318073
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:72316726..72319178-chr11:72323210..72325569,2	K562	blood:
2	chr11:72300647..72303115-chr11:72315486..72318299,2	MCF-7	breast:
3	chr11:72314859..72319000-chr11:72319326..72322445,4	K562	blood:
4	chr11:72317260..72319196-chr11:72329466..72332421,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000186642	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs56125066	0.98[AFR][1000 genomes]
rs56844809	0.81[AFR][1000 genomes]
rs61130136	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72313400-72322400	Weak transcription	Fetal Intestine Small	intestine
2	chr11:72315800-72319000	Enhancers	Ovary	ovary
3	chr11:72316000-72319400	Genic enhancers	Right Ventricle	heart
4	chr11:72316000-72319600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr11:72316200-72318400	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr11:72316600-72318400	Enhancers	Fetal Muscle Leg	muscle
7	chr11:72316600-72318400	Enhancers	HSMMtube	muscle
8	chr11:72316600-72319400	Enhancers	Brain Cingulate Gyrus	brain
9	chr11:72316600-72319800	Enhancers	Brain Anterior Caudate	brain
10	chr11:72316600-72320600	Enhancers	Left Ventricle	heart
11	chr11:72316800-72318600	Bivalent Enhancer	Fetal Stomach	stomach
12	chr11:72316800-72318600	Enhancers	Right Atrium	heart
13	chr11:72316800-72319000	Genic enhancers	Brain Germinal Matrix	brain
14	chr11:72317000-72318800	Enhancers	Fetal Brain Female	brain
15	chr11:72317000-72319000	Enhancers	Fetal Brain Male	brain
16	chr11:72317000-72319400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
17	chr11:72317200-72318200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr11:72317200-72318200	Weak transcription	Liver	Liver
19	chr11:72317200-72318200	Enhancers	Fetal Heart	heart
20	chr11:72317200-72319200	Enhancers	Fetal Muscle Trunk	muscle
21	chr11:72317200-72321400	Weak transcription	Colonic Mucosa	Colon
22	chr11:72317400-72318400	Enhancers	HSMM	muscle
23	chr11:72317400-72318400	Bivalent Enhancer	NHLF	lung
24	chr11:72317400-72319000	Enhancers	Brain Angular Gyrus	brain
25	chr11:72317400-72319400	Weak transcription	Brain Hippocampus Middle	brain
26	chr11:72317400-72319600	Genic enhancers	Colon Smooth Muscle	Colon
27	chr11:72317600-72318600	Enhancers	Spleen	Spleen
28	chr11:72317600-72319600	Bivalent Enhancer	Placenta	Placenta
29	chr11:72317600-72323800	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr11:72317600-72326400	Weak transcription	Gastric	stomach
31	chr11:72317800-72318200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr11:72317800-72318200	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
33	chr11:72317800-72318400	Enhancers	Esophagus	oesophagus
34	chr11:72318000-72318200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr11:72318000-72318200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr11:72318000-72318200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
37	chr11:72318000-72318200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
38	chr11:72318000-72318200	Bivalent Enhancer	Stomach Mucosa	stomach
39	chr11:72318000-72318400	Bivalent Enhancer	Adipose Nuclei	Adipose
40	chr11:72318000-72318600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr11:72318000-72318800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood

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