Variant report

Variant	rs72701606
Chromosome Location	chr4:166205834-166205835
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10213277	0.87[EUR][1000 genomes]
rs10517833	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11725167	0.90[EUR][1000 genomes]
rs12108446	0.87[EUR][1000 genomes]
rs17488289	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17488436	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17488814	0.89[ASN][1000 genomes]
rs17488835	0.89[ASN][1000 genomes]
rs17488877	0.89[ASN][1000 genomes]
rs17585396	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17585515	0.92[EUR][1000 genomes]
rs17585550	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1818471	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1986031	1.00[ASN][1000 genomes]
rs36230153	0.89[ASN][1000 genomes]
rs3901486	1.00[ASN][1000 genomes]
rs4588420	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55648903	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55650232	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55806488	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56022310	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56058696	1.00[ASN][1000 genomes]
rs56104713	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56144732	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56287687	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56326646	0.92[AFR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56370618	1.00[ASN][1000 genomes]
rs56387271	0.89[ASN][1000 genomes]
rs56407727	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56410965	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57162477	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58426709	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58781490	0.91[EUR][1000 genomes]
rs6831119	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6853219	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72699595	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72699598	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72701608	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72701616	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72701655	0.89[ASN][1000 genomes]
rs72701660	0.89[ASN][1000 genomes]
rs72701663	0.89[ASN][1000 genomes]
rs7676311	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv967811	chr4:166200966-166207736	Weak transcription Enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs72701606	KLHL2	cis	Artery Tibial	GTEx

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:166144600-166218800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr4:166170000-166210000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr4:166170600-166209600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr4:166177200-166218800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr4:166177400-166209200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr4:166177400-166215200	Weak transcription	Fetal Stomach	stomach
7	chr4:166177400-166216000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr4:166177400-166218600	Weak transcription	Spleen	Spleen
9	chr4:166177400-166219000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr4:166178800-166207600	Weak transcription	Primary B cells from cord blood	blood
11	chr4:166178800-166209200	Weak transcription	Brain Substantia Nigra	brain
12	chr4:166178800-166209400	Weak transcription	Brain Anterior Caudate	brain
13	chr4:166178800-166218800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr4:166178800-166218800	Weak transcription	Esophagus	oesophagus
15	chr4:166181200-166208200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr4:166182200-166207000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr4:166182800-166207800	Weak transcription	Primary T cells from cord blood	blood
18	chr4:166183600-166209200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr4:166183800-166207000	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr4:166183800-166209600	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr4:166183800-166215200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr4:166183800-166218800	Weak transcription	Aorta	Aorta
23	chr4:166191400-166209200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr4:166192600-166207000	Weak transcription	Primary B cells from peripheral blood	blood
25	chr4:166192800-166223000	Weak transcription	Duodenum Mucosa	Duodenum
26	chr4:166193200-166209200	Weak transcription	Brain Cingulate Gyrus	brain
27	chr4:166193200-166209200	Weak transcription	Brain Hippocampus Middle	brain
28	chr4:166193200-166209400	Weak transcription	NHEK	skin
29	chr4:166195000-166210000	Weak transcription	Dnd41	blood
30	chr4:166195000-166215800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr4:166195600-166209400	Weak transcription	Adipose Nuclei	Adipose
32	chr4:166196200-166215800	Weak transcription	Left Ventricle	heart
33	chr4:166196200-166217600	Weak transcription	Gastric	stomach
34	chr4:166196600-166209800	Weak transcription	NH-A	brain
35	chr4:166197400-166210000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr4:166197600-166209200	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr4:166197600-166216000	Weak transcription	Pancreas	Pancrea
38	chr4:166198200-166230000	Weak transcription	Fetal Muscle Leg	muscle
39	chr4:166199000-166209200	Weak transcription	HSMM	muscle
40	chr4:166199600-166223000	Weak transcription	Ovary	ovary
41	chr4:166200000-166207800	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr4:166200200-166208600	Weak transcription	Liver	Liver
43	chr4:166200200-166209200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr4:166200200-166217200	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr4:166200400-166207000	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr4:166200400-166207200	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr4:166200400-166210000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr4:166200600-166209200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr4:166201000-166217200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr4:166201400-166209400	Weak transcription	Brain Inferior Temporal Lobe	brain

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