Variant report

Variant	rs56058314
Chromosome Location	chr4:166229242-166229243
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:166220524..166222545-chr4:166227451..166229445,2	MCF-7	breast:
2	chr4:166225784..166228128-chr4:166228647..166232526,3	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs13353819	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28678592	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34317779	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3890624	0.80[EUR][1000 genomes]
rs4588420	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55672136	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56022310	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56245360	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56326646	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs57162477	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs67414450	0.88[EUR][1000 genomes]
rs72701608	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72701615	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72701618	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7681175	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs934815	0.84[EUR][1000 genomes];0.86[ASN][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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs56058314	KLHL2	cis	Artery Tibial	GTEx

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:166198200-166230000	Weak transcription	Fetal Muscle Leg	muscle
2	chr4:166214400-166246600	Weak transcription	Placenta	Placenta
3	chr4:166216000-166236800	Weak transcription	Colonic Mucosa	Colon
4	chr4:166216200-166230000	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr4:166216400-166231600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr4:166216400-166240200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr4:166218000-166232200	Weak transcription	Fetal Heart	heart
8	chr4:166219200-166240400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr4:166219400-166230000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr4:166219400-166230600	Weak transcription	Fetal Brain Female	brain
11	chr4:166219400-166246600	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr4:166219400-166246600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr4:166219600-166230400	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr4:166219600-166230400	Weak transcription	Brain Germinal Matrix	brain
15	chr4:166219600-166233800	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr4:166219600-166246800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr4:166220000-166229600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr4:166220000-166231600	Weak transcription	Lung	lung
19	chr4:166220000-166232400	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr4:166220000-166232600	Weak transcription	Left Ventricle	heart
21	chr4:166220000-166246600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr4:166220000-166247000	Weak transcription	Spleen	Spleen
23	chr4:166220000-166247400	Weak transcription	Fetal Stomach	stomach
24	chr4:166220000-166247800	Weak transcription	Right Ventricle	heart
25	chr4:166220200-166229800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr4:166220800-166230200	Weak transcription	Fetal Intestine Small	intestine
27	chr4:166221000-166229600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr4:166221000-166231600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr4:166221200-166232200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr4:166221200-166235200	Weak transcription	Fetal Intestine Large	intestine
31	chr4:166221800-166231600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr4:166223400-166229600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr4:166223400-166230000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr4:166223400-166230000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr4:166223400-166231800	Weak transcription	NH-A	brain
36	chr4:166223400-166232600	Weak transcription	Pancreas	Pancrea
37	chr4:166223400-166232600	Weak transcription	HepG2	liver
38	chr4:166223400-166236400	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr4:166223400-166244800	Weak transcription	HUVEC	blood vessel
40	chr4:166223400-166246400	Weak transcription	Duodenum Mucosa	Duodenum
41	chr4:166223400-166246600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr4:166223400-166246600	Weak transcription	Esophagus	oesophagus
43	chr4:166223400-166246600	Weak transcription	HSMM	muscle
44	chr4:166223400-166246600	Weak transcription	HSMMtube	muscle
45	chr4:166223400-166246800	Weak transcription	Ovary	ovary
46	chr4:166223400-166247400	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr4:166223400-166247600	Weak transcription	Thymus	Thymus
48	chr4:166223400-166247800	Weak transcription	Aorta	Aorta
49	chr4:166223400-166248000	Weak transcription	Gastric	stomach
50	chr4:166223600-166229600	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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