Variant report

Variant	rs41346047
Chromosome Location	chr11:62271102-62271103
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:62270495..62272132-chr11:62312474..62314377,2	K562	blood:
2	chr11:62266117..62267869-chr11:62269229..62271968,2	K562	blood:
3	chr11:62270607..62282151-chr11:62305075..62317987,34	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257058	Chromatin interaction
ENSG00000124942	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11231123	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11824660	1.00[MEX][hapmap]
rs11826380	1.00[MEX][hapmap]
rs11828907	1.00[EUR][1000 genomes]
rs17157352	1.00[EUR][1000 genomes]
rs17157377	1.00[MEX][hapmap]
rs34320415	1.00[EUR][1000 genomes]
rs3888584	1.00[EUR][1000 genomes]
rs41427449	1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs57799986	1.00[EUR][1000 genomes]
rs58505493	1.00[EUR][1000 genomes]
rs58792209	1.00[EUR][1000 genomes]
rs59143369	1.00[EUR][1000 genomes]
rs73483978	1.00[EUR][1000 genomes]
rs73485621	1.00[EUR][1000 genomes]
rs73500265	1.00[EUR][1000 genomes]
rs73500293	1.00[EUR][1000 genomes]
rs73502105	1.00[EUR][1000 genomes]
rs73502120	1.00[EUR][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:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:62247800-62272600	Weak transcription	Aorta	Aorta
2	chr11:62263400-62271800	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr11:62265000-62271800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr11:62265400-62272400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr11:62266200-62271800	Weak transcription	Fetal Intestine Large	intestine
6	chr11:62266400-62272800	Enhancers	Placenta	Placenta
7	chr11:62266800-62271200	Enhancers	Adipose Nuclei	Adipose
8	chr11:62266800-62271400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr11:62267000-62277400	Enhancers	Fetal Heart	heart
10	chr11:62267600-62275600	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr11:62267800-62272600	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr11:62267800-62272800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr11:62268000-62274600	Weak transcription	Hela-S3	cervix
14	chr11:62268200-62271800	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr11:62268400-62272600	Weak transcription	Osteobl	bone
16	chr11:62268600-62272600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr11:62268600-62272800	Weak transcription	NHEK	skin
18	chr11:62269000-62271200	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr11:62269000-62271800	Enhancers	Colonic Mucosa	Colon
20	chr11:62269400-62272400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr11:62269400-62272800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr11:62269400-62275800	Weak transcription	HMEC	breast
23	chr11:62269600-62271400	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr11:62269600-62271800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:62269600-62272000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr11:62269600-62272400	Enhancers	K562	blood
27	chr11:62269600-62272600	Enhancers	Stomach Smooth Muscle	stomach
28	chr11:62269600-62273800	Weak transcription	Gastric	stomach
29	chr11:62269600-62275400	Weak transcription	Pancreas	Pancrea
30	chr11:62269800-62271800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr11:62269800-62271800	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr11:62269800-62271800	Weak transcription	Rectal Smooth Muscle	rectum
33	chr11:62269800-62272000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr11:62269800-62272000	Weak transcription	Right Ventricle	heart
35	chr11:62269800-62272400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr11:62269800-62272400	Weak transcription	NHDF-Ad	bronchial
37	chr11:62269800-62272800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr11:62269800-62275800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr11:62270000-62271200	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr11:62270000-62271800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr11:62270000-62272400	Weak transcription	Brain Angular Gyrus	brain
42	chr11:62270200-62271200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr11:62270200-62271200	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr11:62270200-62271800	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr11:62270200-62271800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr11:62270200-62271800	Weak transcription	Brain Anterior Caudate	brain
47	chr11:62270200-62271800	Weak transcription	Colon Smooth Muscle	Colon
48	chr11:62270200-62272400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr11:62270200-62272600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr11:62270200-62272600	Weak transcription	Esophagus	oesophagus

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