Variant report

Variant	rs73453047
Chromosome Location	chr11:47785659-47785660
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:47775684..47777811-chr11:47784921..47787606,4	K562	blood:
2	chr11:47775752..47779558-chr11:47781673..47786599,7	K562	blood:
3	chr11:47785352..47787641-chr11:47860317..47862615,2	K562	blood:
4	chr11:47785484..47788577-chr11:47791661..47794757,3	K562	blood:
5	chr11:47755457..47757278-chr11:47784612..47786909,2	K562	blood:

Variant related genes	Relation type
ENSG00000109920	Chromatin interaction
ENSG00000030066	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs56904157	1.00[AMR][1000 genomes]
rs56962998	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57175250	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58556689	1.00[AMR][1000 genomes]
rs59055358	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60354180	1.00[AMR][1000 genomes]
rs61144745	1.00[AMR][1000 genomes]
rs61638533	1.00[AMR][1000 genomes]
rs61654484	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73451032	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73451054	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73453068	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73456963	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73456966	1.00[AMR][1000 genomes]
rs73456971	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73456978	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73456993	1.00[AMR][1000 genomes]
rs73458850	1.00[AMR][1000 genomes]
rs73458857	1.00[AMR][1000 genomes]
rs73465695	1.00[AMR][1000 genomes]
rs73465700	1.00[AMR][1000 genomes]
rs73467344	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73467345	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469858	chr11:47647515-47837172	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv1052397	chr11:47675470-48594256	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
3	nsv832143	chr11:47700808-47883540	Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
4	nsv530620	chr11:47765455-48664555	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47737000-47786200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr11:47737800-47785800	Strong transcription	Primary T helper cells fromperipheralblood	blood
3	chr11:47737800-47786000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr11:47737800-47786200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr11:47737800-47786200	Strong transcription	Muscle Satellite Cultured Cells	--
6	chr11:47737800-47786400	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr11:47737800-47786400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
8	chr11:47737800-47786400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr11:47737800-47786400	Strong transcription	Fetal Thymus	thymus
10	chr11:47737800-47786800	Strong transcription	Placenta	Placenta
11	chr11:47738000-47786200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr11:47738000-47786400	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr11:47738000-47786400	Strong transcription	Primary B cells from peripheral blood	blood
14	chr11:47738000-47786800	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr11:47738200-47786400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr11:47738400-47786200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr11:47738600-47785800	Strong transcription	Dnd41	blood
18	chr11:47746200-47786000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr11:47746400-47786200	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr11:47747400-47786200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr11:47747600-47786400	Strong transcription	Fetal Intestine Large	intestine
22	chr11:47747800-47786200	Strong transcription	A549	lung
23	chr11:47748000-47786000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr11:47748600-47786200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr11:47748600-47786200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr11:47748800-47786200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr11:47753400-47786400	Strong transcription	Liver	Liver
28	chr11:47753600-47786400	Strong transcription	Cortex derived primary cultured neurospheres	brain
29	chr11:47759200-47786200	Strong transcription	Duodenum Smooth Muscle	Duodenum
30	chr11:47764800-47786200	Strong transcription	HSMM	muscle
31	chr11:47768000-47786600	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr11:47769000-47787600	Weak transcription	Stomach Mucosa	stomach
33	chr11:47769600-47786000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr11:47776000-47787400	Weak transcription	Psoas Muscle	Psoas
35	chr11:47777400-47786200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr11:47777400-47786200	Strong transcription	Duodenum Mucosa	Duodenum
37	chr11:47777600-47786400	Strong transcription	Brain Cingulate Gyrus	brain
38	chr11:47777600-47786800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr11:47778000-47786200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr11:47778000-47786200	Strong transcription	Adipose Nuclei	Adipose
41	chr11:47778000-47786400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr11:47778400-47786800	Strong transcription	Fetal Muscle Leg	muscle
43	chr11:47778400-47787000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr11:47778600-47786000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr11:47778600-47786000	Strong transcription	Fetal Stomach	stomach
46	chr11:47778600-47786200	Strong transcription	Primary T cells from cord blood	blood
47	chr11:47778600-47786200	Strong transcription	Fetal Brain Female	brain
48	chr11:47778600-47786400	Strong transcription	Primary monocytes fromperipheralblood	blood
49	chr11:47778600-47786400	Strong transcription	Stomach Smooth Muscle	stomach
50	chr11:47778600-47786600	Strong transcription	H1 Cell Line	embryonic stem cell

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