Variant report

Variant	rs1854124
Chromosome Location	chr9:108402586-108402587
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	chr9:108400818..108403460-chr9:108405807..108408679,2	K562	blood:
2	chr9:108395259..108397968-chr9:108400674..108403020,2	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10991682	0.85[AFR][1000 genomes]
rs11999966	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12002748	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12004019	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12004886	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12342071	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1808155	0.87[AFR][1000 genomes]
rs2149592	0.94[EUR][1000 genomes]
rs2149593	0.81[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs2417627	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs41277781	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs66820447	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7033452	0.85[AFR][1000 genomes]
rs7034699	0.89[AFR][1000 genomes]
rs7034702	0.81[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs7042000	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7858616	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7867012	0.86[AFR][1000 genomes]
rs9657645	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519023	chr9:108371549-108454745	Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:108335400-108403400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr9:108338400-108403400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr9:108350800-108403800	Weak transcription	Fetal Heart	heart
4	chr9:108354400-108403600	Weak transcription	Brain Substantia Nigra	brain
5	chr9:108354400-108412400	Weak transcription	Right Ventricle	heart
6	chr9:108354600-108412200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr9:108355200-108404200	Weak transcription	Brain Germinal Matrix	brain
8	chr9:108355200-108409200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr9:108356000-108403800	Weak transcription	Fetal Thymus	thymus
10	chr9:108358200-108405000	Weak transcription	HUVEC	blood vessel
11	chr9:108366800-108403400	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr9:108366800-108405400	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr9:108366800-108418200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr9:108366800-108418200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr9:108367200-108402800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr9:108367200-108403400	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr9:108367400-108407800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr9:108373200-108404600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr9:108383400-108403400	Weak transcription	Colon Smooth Muscle	Colon
20	chr9:108384200-108403600	Weak transcription	Fetal Brain Female	brain
21	chr9:108384400-108403800	Weak transcription	Primary B cells from peripheral blood	blood
22	chr9:108389600-108403200	Weak transcription	A549	lung
23	chr9:108391800-108404600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr9:108392000-108407000	Weak transcription	Fetal Lung	lung
25	chr9:108393600-108402800	Weak transcription	Pancreas	Pancrea
26	chr9:108394600-108403600	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr9:108396200-108403400	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr9:108396200-108409200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr9:108396600-108403800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr9:108397400-108405200	Weak transcription	Aorta	Aorta
31	chr9:108397600-108404000	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr9:108397600-108404000	Weak transcription	Fetal Stomach	stomach
33	chr9:108397600-108404000	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr9:108397600-108404200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr9:108397600-108409200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr9:108397600-108411800	Weak transcription	Lung	lung
37	chr9:108397800-108402800	Weak transcription	Brain Angular Gyrus	brain
38	chr9:108397800-108407000	Weak transcription	Brain Cingulate Gyrus	brain
39	chr9:108398000-108403600	Weak transcription	Liver	Liver
40	chr9:108398000-108405000	Weak transcription	Brain Hippocampus Middle	brain
41	chr9:108398400-108403200	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr9:108398400-108404800	Weak transcription	Dnd41	blood
43	chr9:108398400-108408800	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr9:108398600-108402600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr9:108399000-108403600	Weak transcription	Brain Anterior Caudate	brain
46	chr9:108399200-108405000	Weak transcription	Primary hematopoietic stem cells	blood
47	chr9:108400000-108404200	Weak transcription	Fetal Intestine Large	intestine
48	chr9:108400000-108404800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr9:108400200-108403600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr9:108400200-108403800	Weak transcription	Left Ventricle	heart

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