Variant report

Variant	rs57293370
Chromosome Location	chr11:62272598-62272599
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:62205267..62207782-chr11:62271723..62274072,2	K562	blood:
2	chr11:62270607..62282151-chr11:62305075..62317987,34	MCF-7	breast:
3	chr11:62272391..62274377-chr11:62310109..62312238,2	MCF-7	breast:
4	chr11:62271698..62273633-chr11:62313445..62315600,3	MCF-7	breast:
5	chr11:62272491..62274069-chr11:62609050..62611170,2	K562	blood:

Variant related genes	Relation type
ENSG00000133316	Chromatin interaction
ENSG00000257058	Chromatin interaction
ENSG00000124942	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11231105	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11231140	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12279778	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12280776	1.00[AMR][1000 genomes]
rs12283164	1.00[AMR][1000 genomes]
rs12287248	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17157361	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34709729	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55774907	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57575327	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58479396	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59314885	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60928821	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61524789	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7118805	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7126915	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73498073	1.00[AMR][1000 genomes]
rs73502133	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915636	chr11:62016992-62713565	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1441 gene(s)	inside rSNPs	diseases
2	nsv532283	chr11:62201358-62863475	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1433 gene(s)	inside rSNPs	diseases
3	nsv832180	chr11:62201605-62364828	Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
4	nsv532284	chr11:62220043-62630253	Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1401 gene(s)	inside rSNPs	diseases
5	nsv897621	chr11:62230309-62290170	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	esv3584599	chr11:62262742-62398050	Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:62247800-62272600	Weak transcription	Aorta	Aorta
2	chr11:62266400-62272800	Enhancers	Placenta	Placenta
3	chr11:62267000-62277400	Enhancers	Fetal Heart	heart
4	chr11:62267600-62275600	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr11:62267800-62272600	Enhancers	Rectal Mucosa Donor 31	rectum
6	chr11:62267800-62272800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr11:62268000-62274600	Weak transcription	Hela-S3	cervix
8	chr11:62268400-62272600	Weak transcription	Osteobl	bone
9	chr11:62268600-62272600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr11:62268600-62272800	Weak transcription	NHEK	skin
11	chr11:62269400-62272800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr11:62269400-62275800	Weak transcription	HMEC	breast
13	chr11:62269600-62272600	Enhancers	Stomach Smooth Muscle	stomach
14	chr11:62269600-62273800	Weak transcription	Gastric	stomach
15	chr11:62269600-62275400	Weak transcription	Pancreas	Pancrea
16	chr11:62269800-62272800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr11:62269800-62275800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr11:62270200-62272600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr11:62270200-62272600	Weak transcription	Esophagus	oesophagus
20	chr11:62270400-62272600	Weak transcription	Right Atrium	heart
21	chr11:62270400-62272800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr11:62270800-62272600	Weak transcription	Brain Hippocampus Middle	brain
23	chr11:62270800-62272800	Weak transcription	HUVEC	blood vessel
24	chr11:62270800-62275800	Weak transcription	Psoas Muscle	Psoas
25	chr11:62270800-62281600	Weak transcription	Liver	Liver
26	chr11:62271000-62272600	Weak transcription	Spleen	Spleen
27	chr11:62271000-62273000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr11:62271000-62276200	Weak transcription	Primary hematopoietic stem cells	blood
29	chr11:62271200-62275600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr11:62271200-62275600	Enhancers	Placenta Amnion	Placenta Amnion
31	chr11:62271200-62275800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr11:62271400-62272800	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr11:62271400-62275600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr11:62271400-62275600	Enhancers	A549	lung
35	chr11:62271600-62273600	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr11:62271800-62272600	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr11:62271800-62272600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr11:62271800-62272600	Enhancers	Brain Anterior Caudate	brain
39	chr11:62271800-62272600	Enhancers	Duodenum Mucosa	Duodenum
40	chr11:62271800-62272600	Enhancers	Rectal Mucosa Donor 29	rectum
41	chr11:62271800-62272600	Enhancers	Rectal Smooth Muscle	rectum
42	chr11:62271800-62272800	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr11:62271800-62272800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr11:62271800-62272800	Enhancers	Fetal Intestine Large	intestine
45	chr11:62271800-62272800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
46	chr11:62271800-62272800	Enhancers	Fetal Muscle Leg	muscle
47	chr11:62271800-62273200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr11:62271800-62274800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr11:62271800-62275800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr11:62271800-62276000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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