Variant report

Variant	rs59353629
Chromosome Location	chr4:166218077-166218078
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10016586	0.82[EUR][1000 genomes]
rs12500138	0.90[EUR][1000 genomes]
rs12509117	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12513327	0.90[EUR][1000 genomes]
rs2048605	0.81[EUR][1000 genomes]
rs2063611	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28875275	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3817236	0.86[EUR][1000 genomes]
rs3817237	0.86[EUR][1000 genomes]
rs4691179	0.82[EUR][1000 genomes]
rs55825009	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56677525	0.86[EUR][1000 genomes]
rs56681900	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56859187	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs59157290	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59537562	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6821996	0.87[EUR][1000 genomes]
rs6842924	0.90[EUR][1000 genomes]
rs6847718	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72995995	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72995997	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7663561	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7699241	0.82[EUR][1000 genomes]
rs907739	0.90[EUR][1000 genomes]
rs9993842	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022210	chr4:165792630-166251612	Genic enhancers Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv537337	chr4:165792630-166251612	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:166144600-166218800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr4:166177200-166218800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr4:166177400-166218600	Weak transcription	Spleen	Spleen
4	chr4:166177400-166219000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr4:166178800-166218800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr4:166178800-166218800	Weak transcription	Esophagus	oesophagus
7	chr4:166183800-166218800	Weak transcription	Aorta	Aorta
8	chr4:166192800-166223000	Weak transcription	Duodenum Mucosa	Duodenum
9	chr4:166198200-166230000	Weak transcription	Fetal Muscle Leg	muscle
10	chr4:166199600-166223000	Weak transcription	Ovary	ovary
11	chr4:166202400-166218800	Weak transcription	Brain Germinal Matrix	brain
12	chr4:166204200-166223000	Weak transcription	Thymus	Thymus
13	chr4:166204800-166221200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr4:166205600-166218800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr4:166206000-166218800	Weak transcription	Fetal Intestine Small	intestine
16	chr4:166206200-166218600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr4:166210200-166218600	Weak transcription	HepG2	liver
18	chr4:166210200-166222800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr4:166210400-166218600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr4:166210400-166218800	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr4:166210400-166218800	Weak transcription	Dnd41	blood
22	chr4:166210400-166218800	Weak transcription	HSMMtube	muscle
23	chr4:166210400-166222200	Weak transcription	NHDF-Ad	bronchial
24	chr4:166210400-166222400	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr4:166210400-166222400	Weak transcription	NHLF	lung
26	chr4:166210400-166223000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr4:166210400-166223000	Weak transcription	HSMM	muscle
28	chr4:166210400-166223000	Weak transcription	NH-A	brain
29	chr4:166210400-166229000	Weak transcription	HMEC	breast
30	chr4:166210600-166218800	Weak transcription	NHEK	skin
31	chr4:166210600-166223200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr4:166211000-166218800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr4:166212800-166218800	Weak transcription	Fetal Brain Female	brain
34	chr4:166212800-166223000	Weak transcription	HUVEC	blood vessel
35	chr4:166214400-166246600	Weak transcription	Placenta	Placenta
36	chr4:166214600-166218600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr4:166214600-166218800	Weak transcription	Right Ventricle	heart
38	chr4:166215400-166223000	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr4:166215600-166218800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr4:166215600-166218800	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr4:166215800-166218800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr4:166215800-166219600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr4:166216000-166218600	Enhancers	Liver	Liver
44	chr4:166216000-166218600	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr4:166216000-166218800	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr4:166216000-166218800	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr4:166216000-166221400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr4:166216000-166222800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr4:166216000-166223200	Weak transcription	Small Intestine	intestine
50	chr4:166216000-166236800	Weak transcription	Colonic Mucosa	Colon

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