Variant report

Variant	rs2518127
Chromosome Location	chr9:108355614-108355615
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:108351411..108353757-chr9:108354344..108356561,3	K562	blood:

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs1018848	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1018849	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1018850	1.00[YRI][hapmap]
rs1024366	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10820805	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10820806	1.00[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10820807	1.00[CEU][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10820816	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs10991661	0.80[CEU][hapmap];0.92[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10991662	0.84[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10991664	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10991666	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10991669	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10991675	1.00[CEU][hapmap];0.86[CHB][hapmap];0.85[JPT][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10991680	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10991688	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11525961	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11535511	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12235779	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12554844	1.00[YRI][hapmap]
rs12555267	0.86[CHB][hapmap];0.93[JPT][hapmap];0.83[ASN][1000 genomes]
rs1327351	0.84[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1329021	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1329022	0.84[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.84[ASN][1000 genomes]
rs1576285	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs16924672	0.85[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16924676	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1858744	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1928293	0.84[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1928294	0.93[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2010861	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2068266	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2518109	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2518110	0.84[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2518111	0.84[ASN][1000 genomes]
rs2518113	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2518117	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2518118	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2518119	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2518121	1.00[YRI][hapmap]
rs2518122	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2518132	1.00[CEU][hapmap];0.86[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2518133	0.92[CEU][hapmap];0.86[CHB][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2768278	0.85[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2768282	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2768284	0.84[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2768285	1.00[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2768286	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2768287	0.93[CHB][hapmap];0.93[JPT][hapmap];0.85[ASN][1000 genomes]
rs2768288	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2768293	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2768295	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2768296	1.00[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2904847	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4302902	0.84[ASN][1000 genomes]
rs56134629	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs72744266	0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs72744269	0.85[ASN][1000 genomes]
rs879115	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs879117	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs879118	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs885955	0.84[AMR][1000 genomes];0.85[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	nsv1049133	chr9:108292302-108356068	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:108321600-108360200	Weak transcription	HSMM	muscle
2	chr9:108321600-108397200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr9:108325400-108357200	Weak transcription	A549	lung
4	chr9:108328000-108372800	Weak transcription	NHEK	skin
5	chr9:108330800-108366200	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr9:108333200-108400400	Weak transcription	HMEC	breast
7	chr9:108334200-108368200	Weak transcription	Gastric	stomach
8	chr9:108335400-108403400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr9:108336000-108366200	Weak transcription	NHDF-Ad	bronchial
10	chr9:108338400-108358000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr9:108338400-108366200	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr9:108338400-108371600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr9:108338400-108403400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr9:108340200-108372800	Weak transcription	Pancreas	Pancrea
15	chr9:108345600-108400000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr9:108347000-108399600	Weak transcription	Psoas Muscle	Psoas
17	chr9:108349400-108402200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr9:108350800-108403800	Weak transcription	Fetal Heart	heart
19	chr9:108352600-108382400	Weak transcription	Stomach Smooth Muscle	stomach
20	chr9:108353000-108366000	Weak transcription	Osteobl	bone
21	chr9:108353600-108355800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr9:108353600-108356000	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr9:108353600-108385600	Weak transcription	Fetal Kidney	kidney
24	chr9:108354000-108365400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr9:108354200-108364600	Weak transcription	Left Ventricle	heart
26	chr9:108354200-108373800	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr9:108354400-108356000	Strong transcription	Fetal Thymus	thymus
28	chr9:108354400-108359000	Weak transcription	Liver	Liver
29	chr9:108354400-108360400	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr9:108354400-108366000	Weak transcription	Fetal Muscle Trunk	muscle
31	chr9:108354400-108366200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr9:108354400-108366400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr9:108354400-108366600	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr9:108354400-108369000	Weak transcription	HepG2	liver
35	chr9:108354400-108372400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr9:108354400-108372400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr9:108354400-108372800	Weak transcription	Esophagus	oesophagus
38	chr9:108354400-108378200	Weak transcription	Rectal Smooth Muscle	rectum
39	chr9:108354400-108385800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr9:108354400-108395800	Weak transcription	Brain Cingulate Gyrus	brain
41	chr9:108354400-108395800	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr9:108354400-108397200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr9:108354400-108397400	Weak transcription	Brain Hippocampus Middle	brain
44	chr9:108354400-108400000	Weak transcription	Duodenum Mucosa	Duodenum
45	chr9:108354400-108403600	Weak transcription	Brain Substantia Nigra	brain
46	chr9:108354400-108412400	Weak transcription	Right Ventricle	heart
47	chr9:108354600-108355800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr9:108354600-108355800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr9:108354600-108356000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr9:108354600-108356200	Strong transcription	Primary T cells from cord blood	blood

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