Variant report

Variant	rs59537562
Chromosome Location	chr4:166178314-166178315
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12500138	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12509117	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12513327	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2048605	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2063611	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28875275	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3817236	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3817237	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4691179	0.80[EUR][1000 genomes]
rs55825009	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56677525	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56681900	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56859187	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59157290	0.94[EUR][1000 genomes]
rs59353629	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6821996	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6842924	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6847718	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72995995	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs72995997	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs907739	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9993842	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9997551	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
3	nsv1021905	chr4:165852926-166212878	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv881168	chr4:165975122-166196438	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv966338	chr4:166176361-166179748	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:166129600-166196800	Weak transcription	Pancreas	Pancrea
2	chr4:166130600-166200800	Weak transcription	Lung	lung
3	chr4:166131600-166196800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr4:166132200-166193800	Weak transcription	Fetal Brain Female	brain
5	chr4:166137800-166194200	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr4:166138400-166185600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr4:166144600-166218800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr4:166156200-166199200	Weak transcription	Ovary	ovary
9	chr4:166170000-166210000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr4:166170600-166209600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr4:166175000-166180000	Enhancers	Fetal Heart	heart
12	chr4:166176000-166178800	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr4:166176200-166178400	Enhancers	Primary hematopoietic stem cells	blood
14	chr4:166176400-166179200	Enhancers	Fetal Thymus	thymus
15	chr4:166176600-166178800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr4:166176600-166178800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr4:166177000-166178600	Weak transcription	Esophagus	oesophagus
18	chr4:166177000-166183000	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr4:166177000-166196000	Weak transcription	Gastric	stomach
20	chr4:166177200-166186800	Weak transcription	Fetal Kidney	kidney
21	chr4:166177200-166192000	Weak transcription	Brain Angular Gyrus	brain
22	chr4:166177200-166218800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr4:166177400-166178400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr4:166177400-166178400	Weak transcription	Brain Substantia Nigra	brain
25	chr4:166177400-166178400	Weak transcription	Fetal Intestine Large	intestine
26	chr4:166177400-166178600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr4:166177400-166178600	Weak transcription	Left Ventricle	heart
28	chr4:166177400-166178800	Enhancers	Primary B cells from cord blood	blood
29	chr4:166177400-166178800	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr4:166177400-166178800	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr4:166177400-166178800	Enhancers	Liver	Liver
32	chr4:166177400-166178800	Enhancers	Brain Hippocampus Middle	brain
33	chr4:166177400-166179000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr4:166177400-166180600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr4:166177400-166183800	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr4:166177400-166185000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr4:166177400-166185000	Weak transcription	Fetal Intestine Small	intestine
38	chr4:166177400-166187000	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr4:166177400-166199200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr4:166177400-166201200	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr4:166177400-166201600	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr4:166177400-166204200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr4:166177400-166209200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr4:166177400-166215200	Weak transcription	Fetal Stomach	stomach
45	chr4:166177400-166216000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr4:166177400-166218600	Weak transcription	Spleen	Spleen
47	chr4:166177400-166219000	Weak transcription	Rectal Smooth Muscle	rectum
48	chr4:166177600-166178600	Weak transcription	Brain Germinal Matrix	brain
49	chr4:166177600-166178800	Enhancers	Dnd41	blood
50	chr4:166177600-166178800	Enhancers	Monocytes-CD14+_RO01746	blood

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