Variant report

Variant	rs2589505
Chromosome Location	chr4:86917501-86917502
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs189395	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs189396	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2043647	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2136782	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2164538	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2575681	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2575682	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2589510	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2665869	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2665876	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs346469	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs346470	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs346472	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs346473	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs346476	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs346477	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs346482	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs346483	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs346486	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs346487	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs346489	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs346490	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs346491	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs346493	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs346494	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs346495	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs346496	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs346499	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs346500	0.81[EUR][1000 genomes]
rs346501	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62305518	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879520	chr4:86829529-86918232	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv1009622	chr4:86893536-87119153	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv1005257	chr4:86899596-86925469	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:86888800-86919200	Weak transcription	Colon Smooth Muscle	Colon
2	chr4:86889400-86935000	Weak transcription	Psoas Muscle	Psoas
3	chr4:86899200-86927000	Weak transcription	Lung	lung
4	chr4:86899800-86917800	Weak transcription	Small Intestine	intestine
5	chr4:86911000-86919400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr4:86913000-86918200	Strong transcription	Primary B cells from peripheral blood	blood
7	chr4:86913200-86919000	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr4:86914200-86924000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr4:86914400-86917800	Strong transcription	Fetal Muscle Leg	muscle
10	chr4:86914600-86917800	Strong transcription	NHDF-Ad	bronchial
11	chr4:86914800-86917600	Weak transcription	Stomach Mucosa	stomach
12	chr4:86914800-86918400	Strong transcription	Fetal Muscle Trunk	muscle
13	chr4:86914800-86923200	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr4:86915200-86918000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr4:86915200-86918200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr4:86915600-86917800	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr4:86915600-86918200	Strong transcription	Primary B cells from cord blood	blood
18	chr4:86915800-86917600	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr4:86915800-86918000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr4:86915800-86918000	Strong transcription	Muscle Satellite Cultured Cells	--
21	chr4:86915800-86918200	Strong transcription	Fetal Kidney	kidney
22	chr4:86916000-86917600	Strong transcription	Skeletal Muscle Male	skeletal muscle
23	chr4:86916000-86917600	Strong transcription	HSMM	muscle
24	chr4:86916200-86918600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr4:86916600-86918400	Weak transcription	Brain Hippocampus Middle	brain
26	chr4:86916600-86923600	Weak transcription	Fetal Intestine Small	intestine
27	chr4:86916800-86918400	Weak transcription	Duodenum Mucosa	Duodenum
28	chr4:86916800-86918400	Strong transcription	HUVEC	blood vessel
29	chr4:86916800-86921000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr4:86916800-86923200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr4:86916800-86923200	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr4:86916800-86929400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr4:86916800-86935800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr4:86916800-86985400	Weak transcription	Ovary	ovary
35	chr4:86917000-86918600	Weak transcription	Placenta	Placenta
36	chr4:86917000-86920000	Weak transcription	Aorta	Aorta
37	chr4:86917000-86923400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr4:86917000-86925000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr4:86917000-86926000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr4:86917000-86929000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr4:86917000-86931800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr4:86917000-86931800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr4:86917000-86931800	Weak transcription	Osteobl	bone
44	chr4:86917000-86932000	Weak transcription	NHLF	lung
45	chr4:86917000-86932400	Weak transcription	Fetal Lung	lung
46	chr4:86917000-86932400	Weak transcription	Right Ventricle	heart
47	chr4:86917000-86933800	Weak transcription	Gastric	stomach
48	chr4:86917000-86933800	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr4:86917000-86935200	Weak transcription	Left Ventricle	heart
50	chr4:86917000-86935800	Weak transcription	Spleen	Spleen

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