Variant report

Variant	rs554140
Chromosome Location	chr11:57591496-57591497
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:57573852..57576026-chr11:57590260..57593015,2	K562	blood:

Variant related genes	Relation type
ENSG00000198561	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10444364	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10736687	0.92[ASW][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.89[LWK][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10750868	1.00[CHB][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10896643	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12284427	1.00[AMR][1000 genomes]
rs1313360	1.00[ASN][1000 genomes]
rs1553827	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1798174	1.00[ASN][1000 genomes]
rs1939322	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2441951	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2441957	1.00[ASN][1000 genomes]
rs2513707	1.00[ASN][1000 genomes]
rs2860261	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3019057	1.00[ASN][1000 genomes]
rs34430954	1.00[ASN][1000 genomes]
rs474073	1.00[CHB][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs474464	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs505995	1.00[ASN][1000 genomes]
rs523739	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs529838	1.00[CHB][hapmap];1.00[GIH][hapmap];0.89[LWK][hapmap];0.94[MKK][hapmap];1.00[YRI][hapmap]
rs542777	1.00[CHB][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs552122	1.00[CHB][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs557051	1.00[CHB][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55786036	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55838210	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56879142	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57201273	1.00[ASN][1000 genomes]
rs57260887	1.00[ASN][1000 genomes]
rs57759830	1.00[ASN][1000 genomes]
rs58176671	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs585190	1.00[ASN][1000 genomes]
rs58851976	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59046396	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60076210	1.00[ASN][1000 genomes]
rs60282001	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60897155	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61444907	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61638601	1.00[ASN][1000 genomes]
rs61743110	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs627861	1.00[ASN][1000 genomes]
rs635663	1.00[CHB][hapmap];0.96[YRI][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs637116	0.84[YRI][hapmap];1.00[ASN][1000 genomes]
rs648412	1.00[CHB][hapmap];1.00[GIH][hapmap];0.89[LWK][hapmap];0.96[YRI][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7103407	1.00[CHB][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7103768	1.00[ASN][1000 genomes]
rs7105331	1.00[ASN][1000 genomes]
rs7110490	1.00[ASN][1000 genomes]
rs7112557	1.00[ASN][1000 genomes]
rs7118249	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7118308	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7122105	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7131175	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73472468	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73474417	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73474449	1.00[ASN][1000 genomes]
rs73474453	1.00[ASN][1000 genomes]
rs73474454	1.00[ASN][1000 genomes]
rs73474455	1.00[ASN][1000 genomes]
rs73474476	1.00[ASN][1000 genomes]
rs73482748	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73482786	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73482796	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73482801	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7928666	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7938752	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs947940	1.00[CHB][hapmap];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv530621	chr11:57139699-57703639	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
4	nsv1040913	chr11:57315006-57696122	Active TSS Flanking Active TSS Weak transcription Enhancers 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	93 gene(s)	inside rSNPs	diseases
5	nsv1054205	chr11:57544264-58358509	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57579600-57604400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:57584800-57591800	Weak transcription	A549	lung
3	chr11:57584800-57600600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr11:57585800-57591800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr11:57586600-57592400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr11:57587200-57594600	Weak transcription	HSMMtube	muscle
7	chr11:57587200-57597200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr11:57587400-57600600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr11:57587800-57593000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr11:57587800-57593200	Weak transcription	HUVEC	blood vessel
11	chr11:57589000-57600000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr11:57590200-57606800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr11:57590600-57591600	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr11:57591000-57591600	Enhancers	Adipose Nuclei	Adipose
15	chr11:57591200-57599600	Weak transcription	HSMM	muscle
16	chr11:57591400-57591600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr11:57591400-57591600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr11:57591400-57591600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr11:57591400-57591600	Enhancers	Brain Angular Gyrus	brain
20	chr11:57591400-57591600	Enhancers	Esophagus	oesophagus
21	chr11:57591400-57591600	Enhancers	Left Ventricle	heart
22	chr11:57591400-57591600	Active TSS	Lung	lung
23	chr11:57591400-57591600	Enhancers	Ovary	ovary

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