Variant report

Variant	rs2518123
Chromosome Location	chr9:108352348-108352349
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	chr9:108351411..108353757-chr9:108354344..108356561,3	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10115299	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10761100	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10816278	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10820809	0.85[EUR][1000 genomes]
rs10820810	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10820812	0.94[CHB][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs10820813	0.96[CEU][hapmap];0.84[CHB][hapmap];0.90[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1327354	1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs1360089	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1806898	1.00[CHB][hapmap];0.90[JPT][hapmap];0.85[ASN][1000 genomes]
rs1815383	0.92[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1960023	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs1987634	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2225246	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2427769	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2518106	1.00[CEU][hapmap];0.80[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs2518112	0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2518114	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2518116	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2518120	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2518124	0.99[ASN][1000 genomes]
rs2518128	1.00[CEU][hapmap];0.80[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2518131	0.92[CEU][hapmap];0.97[EUR][1000 genomes]
rs2768279	1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs2768280	0.94[EUR][1000 genomes]
rs2768283	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2768290	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2768291	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2768292	0.99[ASN][1000 genomes]
rs2768294	0.91[CEU][hapmap];0.80[JPT][hapmap];0.97[EUR][1000 genomes]
rs2771038	0.92[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2771041	0.88[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2771042	0.92[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2812297	0.84[CHB][hapmap];0.89[JPT][hapmap]
rs2812303	0.92[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.80[EUR][1000 genomes]
rs2812307	0.84[ASN][1000 genomes]
rs2812308	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2812310	0.94[CHB][hapmap];0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs4742947	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4742948	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6477447	0.80[EUR][1000 genomes]
rs6477449	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7020083	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7357632	1.00[CHB][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs7864020	0.81[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:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:108321600-108353600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr9:108321600-108354000	Weak transcription	Right Ventricle	heart
3	chr9:108321600-108360200	Weak transcription	HSMM	muscle
4	chr9:108321600-108397200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr9:108324800-108353800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr9:108325400-108357200	Weak transcription	A549	lung
7	chr9:108325600-108353200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr9:108325600-108353200	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr9:108325600-108353800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr9:108325800-108353800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr9:108328000-108372800	Weak transcription	NHEK	skin
12	chr9:108330800-108366200	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr9:108333200-108400400	Weak transcription	HMEC	breast
14	chr9:108333400-108352600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr9:108333400-108352600	Weak transcription	Fetal Kidney	kidney
16	chr9:108334200-108368200	Weak transcription	Gastric	stomach
17	chr9:108334800-108353000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr9:108335000-108352600	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr9:108335000-108352600	Weak transcription	Brain Hippocampus Middle	brain
20	chr9:108335000-108353000	Weak transcription	Aorta	Aorta
21	chr9:108335200-108352600	Weak transcription	Primary B cells from peripheral blood	blood
22	chr9:108335200-108353000	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr9:108335400-108403400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr9:108335600-108352400	Weak transcription	Left Ventricle	heart
25	chr9:108336000-108353200	Weak transcription	Duodenum Mucosa	Duodenum
26	chr9:108336000-108366200	Weak transcription	NHDF-Ad	bronchial
27	chr9:108336400-108353800	Weak transcription	Brain Angular Gyrus	brain
28	chr9:108337600-108353800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr9:108337800-108354800	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr9:108338400-108352400	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr9:108338400-108352400	Weak transcription	Ovary	ovary
32	chr9:108338400-108352600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr9:108338400-108352800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr9:108338400-108352800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr9:108338400-108352800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr9:108338400-108352800	Weak transcription	Fetal Brain Female	brain
37	chr9:108338400-108353000	Weak transcription	Fetal Muscle Leg	muscle
38	chr9:108338400-108353400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr9:108338400-108353800	Weak transcription	Adipose Nuclei	Adipose
40	chr9:108338400-108353800	Weak transcription	Brain Cingulate Gyrus	brain
41	chr9:108338400-108354200	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr9:108338400-108354400	Weak transcription	Colon Smooth Muscle	Colon
43	chr9:108338400-108358000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr9:108338400-108366200	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr9:108338400-108371600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr9:108338400-108403400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr9:108338600-108352400	Weak transcription	Primary hematopoietic stem cells	blood
48	chr9:108339600-108353000	Weak transcription	Fetal Stomach	stomach
49	chr9:108340200-108372800	Weak transcription	Pancreas	Pancrea
50	chr9:108342800-108352400	Weak transcription	Fetal Intestine Small	intestine

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