Variant report

Variant	rs1048215
Chromosome Location	chr9:108403163-108403164
allele	A/T
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	chr9:108400600..108402470-chr9:108402643..108404478,2	MCF-7	breast:

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10491809	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10816281	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10816283	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10816285	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10816286	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10816287	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10816288	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10816289	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10820804	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10820811	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10820814	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10820815	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10978169	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10978172	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10978176	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10978177	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10978179	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10991659	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10991673	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10991677	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10991679	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11562356	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12336250	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12336844	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12337780	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12345599	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12352975	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1327352	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1327355	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1887367	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2296750	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2417625	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28542455	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs28851907	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3750500	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3793639	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55798036	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7023302	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7023520	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7033138	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7033165	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7034149	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7037104	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7037141	0.81[AMR][1000 genomes]
rs7037218	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7038407	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7047791	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72744263	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72744264	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7852541	0.81[EUR][1000 genomes]
rs7854411	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7856617	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7857186	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs997319	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][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:71 , 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	chr9:108367200-108403400	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr9:108367400-108407800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr9:108373200-108404600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr9:108383400-108403400	Weak transcription	Colon Smooth Muscle	Colon
19	chr9:108384200-108403600	Weak transcription	Fetal Brain Female	brain
20	chr9:108384400-108403800	Weak transcription	Primary B cells from peripheral blood	blood
21	chr9:108389600-108403200	Weak transcription	A549	lung
22	chr9:108391800-108404600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr9:108392000-108407000	Weak transcription	Fetal Lung	lung
24	chr9:108394600-108403600	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr9:108396200-108403400	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr9:108396200-108409200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr9:108396600-108403800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr9:108397400-108405200	Weak transcription	Aorta	Aorta
29	chr9:108397600-108404000	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr9:108397600-108404000	Weak transcription	Fetal Stomach	stomach
31	chr9:108397600-108404000	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr9:108397600-108404200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr9:108397600-108409200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr9:108397600-108411800	Weak transcription	Lung	lung
35	chr9:108397800-108407000	Weak transcription	Brain Cingulate Gyrus	brain
36	chr9:108398000-108403600	Weak transcription	Liver	Liver
37	chr9:108398000-108405000	Weak transcription	Brain Hippocampus Middle	brain
38	chr9:108398400-108403200	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr9:108398400-108404800	Weak transcription	Dnd41	blood
40	chr9:108398400-108408800	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr9:108399000-108403600	Weak transcription	Brain Anterior Caudate	brain
42	chr9:108399200-108405000	Weak transcription	Primary hematopoietic stem cells	blood
43	chr9:108400000-108404200	Weak transcription	Fetal Intestine Large	intestine
44	chr9:108400000-108404800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr9:108400200-108403600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr9:108400200-108403800	Weak transcription	Left Ventricle	heart
47	chr9:108400200-108404800	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr9:108400200-108405400	Weak transcription	Primary B cells from cord blood	blood
49	chr9:108400200-108409000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr9:108400400-108403600	Weak transcription	Stomach Smooth Muscle	stomach

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