Variant report

Variant	rs57124873
Chromosome Location	chr9:100959782-100959783
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:100954612..100957574-chr9:100959524..100962967,5	K562	blood:

Variant related genes	Relation type
ENSG00000106789	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10760184	0.91[ASN][1000 genomes]
rs10818575	0.86[ASN][1000 genomes]
rs10818584	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10818607	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10985340	0.91[EUR][1000 genomes]
rs10985358	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10985359	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10985360	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10985367	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11791308	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11791479	0.86[ASN][1000 genomes]
rs12238262	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12353091	0.90[ASN][1000 genomes]
rs16913615	0.86[ASN][1000 genomes]
rs16913616	0.92[EUR][1000 genomes]
rs16913619	0.92[EUR][1000 genomes]
rs16913640	0.83[ASN][1000 genomes]
rs3758258	0.83[ASN][1000 genomes]
rs3780454	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3824452	0.87[ASN][1000 genomes]
rs3887955	0.87[ASN][1000 genomes]
rs4743183	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4743184	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55752813	0.92[EUR][1000 genomes]
rs55754658	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56358945	0.92[EUR][1000 genomes]
rs59025844	0.92[EUR][1000 genomes]
rs59604725	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][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	nsv1053729	chr9:100909554-100997718	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv520067	chr9:100927161-100978542	Genic enhancers Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv430085	chr9:100928245-101339645	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv831663	chr9:100941048-101109492	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1045780	chr9:100943318-101080389	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv540180	chr9:100943318-101080389	Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100955800-100960200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr9:100955800-100960400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr9:100955800-100960600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr9:100955800-100960600	Weak transcription	Gastric	stomach
5	chr9:100955800-100960800	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr9:100955800-100961000	Weak transcription	HSMMtube	muscle
7	chr9:100955800-100961400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr9:100955800-100961400	Weak transcription	Brain Substantia Nigra	brain
9	chr9:100955800-100961400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr9:100955800-100961400	Weak transcription	Thymus	Thymus
11	chr9:100955800-100961600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr9:100955800-100961600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr9:100955800-100962000	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr9:100955800-100962000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr9:100955800-100962000	Weak transcription	HSMM	muscle
16	chr9:100955800-100964200	Weak transcription	Pancreas	Pancrea
17	chr9:100955800-100965200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr9:100955800-100965200	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr9:100955800-100970400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr9:100955800-100970400	Weak transcription	Left Ventricle	heart
21	chr9:100955800-100970400	Weak transcription	Rectal Smooth Muscle	rectum
22	chr9:100955800-100970600	Weak transcription	Ovary	ovary
23	chr9:100955800-100970600	Weak transcription	Right Ventricle	heart
24	chr9:100955800-100975000	Weak transcription	Primary B cells from cord blood	blood
25	chr9:100955800-100975000	Weak transcription	NHDF-Ad	bronchial
26	chr9:100955800-100975200	Weak transcription	NH-A	brain
27	chr9:100955800-100975600	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr9:100955800-101003200	Weak transcription	Primary hematopoietic stem cells	blood
29	chr9:100956000-100959800	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr9:100956000-100960000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr9:100956000-100960200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr9:100956000-100960400	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr9:100956000-100960600	Weak transcription	Brain Cingulate Gyrus	brain
34	chr9:100956000-100960600	Weak transcription	Colonic Mucosa	Colon
35	chr9:100956000-100961000	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr9:100956000-100961200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr9:100956000-100961400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr9:100956000-100961400	Weak transcription	Duodenum Mucosa	Duodenum
39	chr9:100956000-100961400	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr9:100956000-100961600	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr9:100956000-100961600	Weak transcription	NHLF	lung
42	chr9:100956000-100962000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr9:100956000-100965000	Weak transcription	Adipose Nuclei	Adipose
44	chr9:100956000-100969800	Weak transcription	Primary T cells from cord blood	blood
45	chr9:100956000-100970000	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr9:100956000-100970600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr9:100956000-100971000	Weak transcription	Duodenum Smooth Muscle	Duodenum
48	chr9:100956000-100981000	Weak transcription	A549	lung
49	chr9:100956200-100959800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr9:100956200-100960000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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