Variant report

Variant	rs1159078
Chromosome Location	chr5:106553396-106553397
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10043144	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10043242	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1030172	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1030173	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1030174	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10515368	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10900898	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11242627	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1159077	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1345636	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1363313	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17386596	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1833606	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1990908	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2161234	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2410941	0.81[EUR][1000 genomes]
rs2410942	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2410944	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2410951	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2410979	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs35814230	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4143065	0.88[ASN][1000 genomes]
rs4957531	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4957688	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6596722	0.83[CHB][hapmap];0.81[JPT][hapmap]
rs6862257	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6862498	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6865431	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6878038	0.80[ASN][1000 genomes]
rs6888773	0.88[ASN][1000 genomes]
rs6895080	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7710569	0.88[ASN][1000 genomes]
rs7710595	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7716820	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030118	chr5:106006097-106847949	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv823170	chr5:106326293-106673695	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv2752056	chr5:106422649-106563101	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv1034276	chr5:106461538-106944163	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv537851	chr5:106461538-106944163	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv882680	chr5:106493350-106573961	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv882681	chr5:106508913-106573961	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:106551000-106554600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr5:106551000-106555000	Enhancers	NHEK	skin
3	chr5:106551200-106554200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr5:106551200-106555200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr5:106551400-106554800	Enhancers	Fetal Heart	heart
6	chr5:106551400-106555200	Enhancers	HMEC	breast
7	chr5:106551600-106555400	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr5:106551800-106557200	Weak transcription	Right Ventricle	heart
9	chr5:106552000-106553400	Weak transcription	HSMM	muscle
10	chr5:106552400-106553800	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr5:106552400-106554000	Enhancers	Fetal Muscle Leg	muscle
12	chr5:106552400-106554200	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr5:106552400-106554800	Enhancers	Aorta	Aorta
14	chr5:106552600-106553600	Weak transcription	Esophagus	oesophagus
15	chr5:106552600-106557200	Weak transcription	Lung	lung
16	chr5:106552800-106554200	Enhancers	Stomach Smooth Muscle	stomach
17	chr5:106553000-106553400	Enhancers	Brain Substantia Nigra	brain
18	chr5:106553000-106553800	Enhancers	Brain Angular Gyrus	brain
19	chr5:106553000-106554000	Enhancers	Placenta	Placenta
20	chr5:106553000-106554000	Enhancers	Psoas Muscle	Psoas
21	chr5:106553000-106555400	Enhancers	Muscle Satellite Cultured Cells	--
22	chr5:106553200-106553600	Enhancers	Brain Germinal Matrix	brain
23	chr5:106553200-106553600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
24	chr5:106553200-106553800	Enhancers	Fetal Brain Female	brain
25	chr5:106553200-106553800	Enhancers	Placenta Amnion	Placenta Amnion
26	chr5:106553200-106554000	Enhancers	Brain Cingulate Gyrus	brain
27	chr5:106553200-106554000	Enhancers	Fetal Brain Male	brain
28	chr5:106553200-106554200	Enhancers	Osteobl	bone
29	chr5:106553200-106555400	Enhancers	HUVEC	blood vessel

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