Variant report

Variant	rs73506717
Chromosome Location	chr11:77372249-77372250
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:77364688..77367586-chr11:77371542..77373901,2	K562	blood:
2	chr11:77370448..77372575-chr11:77382906..77385113,2	K562	blood:

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs35216705	1.00[AMR][1000 genomes]
rs56709311	1.00[AMR][1000 genomes]
rs57008614	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57229097	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57544945	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58758035	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59231807	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59293034	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60695213	1.00[AMR][1000 genomes]
rs60704733	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61186004	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73492001	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73493811	1.00[AFR][1000 genomes]
rs73493813	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73493836	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73493884	1.00[AMR][1000 genomes]
rs73495954	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73498844	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73498845	1.00[AMR][1000 genomes]
rs73498851	1.00[AMR][1000 genomes]
rs73498854	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73498869	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73498882	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73498884	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73499843	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73500705	1.00[AMR][1000 genomes]
rs73500729	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73500735	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73500750	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73500752	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73500756	1.00[AMR][1000 genomes]
rs73500773	1.00[AMR][1000 genomes]
rs73504713	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73504718	1.00[AMR][1000 genomes]
rs73504734	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73504744	1.00[AMR][1000 genomes]
rs73504765	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73504777	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73504800	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73506711	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73506724	1.00[AMR][1000 genomes]
rs73506730	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73506734	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73506737	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73506741	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73506742	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73506754	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73506778	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73508705	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73508715	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73508720	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73508738	1.00[AFR][1000 genomes]
rs73508749	1.00[AFR][1000 genomes];1.00[AMR][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	nsv1048360	chr11:76900813-77387933	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv541089	chr11:76900813-77387933	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1049603	chr11:76900813-77520411	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv541090	chr11:76900813-77520411	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv1038974	chr11:77284036-77431228	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv1041384	chr11:77284558-77419809	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv1048892	chr11:77290458-77431228	Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv1053074	chr11:77290458-77435831	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
9	nsv468641	chr11:77301341-77420314	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
10	nsv555452	chr11:77301341-77420314	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
11	nsv1035494	chr11:77309696-77431228	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:77356000-77377800	Weak transcription	Osteobl	bone
2	chr11:77360400-77419200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:77365200-77375000	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr11:77367400-77375400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr11:77367400-77375600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr11:77367600-77374000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:77367600-77377800	Weak transcription	HepG2	liver
8	chr11:77368800-77378000	Weak transcription	Esophagus	oesophagus
9	chr11:77369000-77375400	Weak transcription	Placenta	Placenta
10	chr11:77369400-77378000	Weak transcription	Fetal Kidney	kidney
11	chr11:77369600-77375200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr11:77369600-77375600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr11:77370000-77373400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr11:77370000-77375000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr11:77370000-77377800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr11:77370000-77377800	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr11:77370000-77378000	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr11:77370000-77378000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr11:77370000-77378000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr11:77370000-77378000	Weak transcription	NHLF	lung
21	chr11:77370000-77410400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr11:77370200-77373800	Weak transcription	HSMM	muscle
23	chr11:77370200-77378000	Weak transcription	K562	blood
24	chr11:77370200-77380200	Weak transcription	NHDF-Ad	bronchial
25	chr11:77370400-77378000	Weak transcription	HSMMtube	muscle
26	chr11:77370800-77375200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr11:77370800-77375600	Weak transcription	Primary T cells from cord blood	blood
28	chr11:77370800-77377800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr11:77371000-77373000	Enhancers	Primary B cells from cord blood	blood
30	chr11:77371400-77372600	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr11:77371600-77372600	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr11:77371600-77372800	Enhancers	Primary B cells from peripheral blood	blood
33	chr11:77371800-77372600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr11:77371800-77372600	Enhancers	GM12878-XiMat	blood
35	chr11:77372000-77372600	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr11:77372000-77372600	Enhancers	HMEC	breast
37	chr11:77372000-77372800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr11:77372000-77372800	Enhancers	NHEK	skin
39	chr11:77372000-77373000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr11:77372000-77375200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr11:77372000-77375400	Weak transcription	Primary hematopoietic stem cells	blood
42	chr11:77372200-77372400	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr11:77372200-77372800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr11:77372200-77373800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr11:77372200-77375600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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