Variant report

Variant	rs58781490
Chromosome Location	chr4:166197887-166197888
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10517833	0.83[EUR][1000 genomes]
rs11725167	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17488289	0.85[EUR][1000 genomes]
rs17488436	0.85[EUR][1000 genomes]
rs17585396	0.85[EUR][1000 genomes]
rs17585515	0.84[EUR][1000 genomes]
rs17585550	0.84[EUR][1000 genomes]
rs1818471	0.84[EUR][1000 genomes]
rs28472332	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55648903	0.84[EUR][1000 genomes]
rs55650232	0.88[EUR][1000 genomes]
rs55705752	0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs55806488	0.88[EUR][1000 genomes]
rs56104713	0.85[EUR][1000 genomes]
rs56144732	0.80[EUR][1000 genomes]
rs56287687	0.91[EUR][1000 genomes]
rs56407727	0.91[EUR][1000 genomes]
rs56410965	0.84[EUR][1000 genomes]
rs58426709	0.82[EUR][1000 genomes]
rs67414450	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6831119	0.89[EUR][1000 genomes]
rs6853219	0.91[EUR][1000 genomes]
rs72699595	0.84[EUR][1000 genomes]
rs72699598	0.84[EUR][1000 genomes]
rs72701606	0.91[EUR][1000 genomes]
rs72701616	0.84[EUR][1000 genomes]
rs7676311	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs58781490	KLHL2	cis	Artery Tibial	GTEx

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:166130600-166200800	Weak transcription	Lung	lung
2	chr4:166144600-166218800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr4:166156200-166199200	Weak transcription	Ovary	ovary
4	chr4:166170000-166210000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr4:166170600-166209600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:166177200-166218800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr4:166177400-166199200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr4:166177400-166201200	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr4:166177400-166201600	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr4:166177400-166204200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr4:166177400-166209200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr4:166177400-166215200	Weak transcription	Fetal Stomach	stomach
13	chr4:166177400-166216000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr4:166177400-166218600	Weak transcription	Spleen	Spleen
15	chr4:166177400-166219000	Weak transcription	Rectal Smooth Muscle	rectum
16	chr4:166177800-166205000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr4:166178400-166205600	Weak transcription	Primary hematopoietic stem cells	blood
18	chr4:166178800-166200600	Weak transcription	Fetal Intestine Large	intestine
19	chr4:166178800-166207600	Weak transcription	Primary B cells from cord blood	blood
20	chr4:166178800-166209200	Weak transcription	Brain Substantia Nigra	brain
21	chr4:166178800-166209400	Weak transcription	Brain Anterior Caudate	brain
22	chr4:166178800-166218800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr4:166178800-166218800	Weak transcription	Esophagus	oesophagus
24	chr4:166181200-166199200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr4:166181200-166204600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr4:166181200-166208200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr4:166182200-166207000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr4:166182800-166207800	Weak transcription	Primary T cells from cord blood	blood
29	chr4:166183600-166209200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr4:166183800-166207000	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr4:166183800-166209600	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr4:166183800-166215200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr4:166183800-166218800	Weak transcription	Aorta	Aorta
34	chr4:166184200-166202400	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr4:166184800-166200600	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr4:166185600-166198800	Weak transcription	Liver	Liver
37	chr4:166189000-166200800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr4:166189800-166205000	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr4:166191400-166209200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr4:166192000-166198600	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr4:166192600-166207000	Weak transcription	Primary B cells from peripheral blood	blood
42	chr4:166192800-166223000	Weak transcription	Duodenum Mucosa	Duodenum
43	chr4:166193200-166209200	Weak transcription	Brain Cingulate Gyrus	brain
44	chr4:166193200-166209200	Weak transcription	Brain Hippocampus Middle	brain
45	chr4:166193200-166209400	Weak transcription	NHEK	skin
46	chr4:166194600-166199000	Weak transcription	Fetal Muscle Trunk	muscle
47	chr4:166194800-166204600	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr4:166194800-166204600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr4:166195000-166198400	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr4:166195000-166204600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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