Variant report

Variant	rs1818471
Chromosome Location	chr4:166152316-166152317
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10213277	0.88[CEU][hapmap];0.93[EUR][1000 genomes]
rs10517833	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11725167	0.84[CEU][hapmap];0.83[EUR][1000 genomes]
rs11726415	1.00[CHB][hapmap]
rs12108446	0.93[EUR][1000 genomes]
rs1530043	1.00[CHB][hapmap]
rs17046216	1.00[CHB][hapmap]
rs17488289	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17488436	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17488534	1.00[CHB][hapmap]
rs17488569	1.00[CHB][hapmap]
rs17488814	0.89[ASN][1000 genomes]
rs17488835	0.89[ASN][1000 genomes]
rs17488877	0.89[ASN][1000 genomes]
rs17585396	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17585515	0.95[CEU][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17585550	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1986031	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28472332	0.86[EUR][1000 genomes]
rs28678592	1.00[CHB][hapmap]
rs36230153	0.89[ASN][1000 genomes]
rs3901486	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4588420	1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs55648903	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55650232	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55806488	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56022310	1.00[ASN][1000 genomes]
rs56058696	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56104713	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56144732	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56287687	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56326646	1.00[ASN][1000 genomes]
rs56370618	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56387271	0.89[ASN][1000 genomes]
rs56407727	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56410965	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57162477	1.00[ASN][1000 genomes]
rs58426709	0.86[AFR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58781490	0.84[EUR][1000 genomes]
rs6831119	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6853219	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72699595	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72699598	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72701606	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72701608	1.00[ASN][1000 genomes]
rs72701616	0.87[EUR][1000 genomes]
rs72701655	0.89[ASN][1000 genomes]
rs72701660	0.89[ASN][1000 genomes]
rs72701663	0.89[ASN][1000 genomes]
rs7676311	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv533191	chr4:165879671-166171638	Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	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
6	nsv980271	chr4:166140782-166154486	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1818471	KLHL2	cis	Artery Tibial	GTEx

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:166129600-166154400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr4:166129600-166196800	Weak transcription	Pancreas	Pancrea
3	chr4:166130400-166176800	Weak transcription	Fetal Intestine Small	intestine
4	chr4:166130600-166200800	Weak transcription	Lung	lung
5	chr4:166131600-166162800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr4:166131600-166165800	Weak transcription	Gastric	stomach
7	chr4:166131600-166196800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr4:166132000-166156400	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr4:166132200-166193800	Weak transcription	Fetal Brain Female	brain
10	chr4:166135800-166152600	Weak transcription	Brain Germinal Matrix	brain
11	chr4:166135800-166159000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr4:166136000-166176800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr4:166137600-166162800	Weak transcription	NH-A	brain
14	chr4:166137800-166194200	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr4:166138000-166157200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr4:166138000-166161600	Weak transcription	HSMMtube	muscle
17	chr4:166138200-166168800	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr4:166138400-166185600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr4:166142800-166165800	Weak transcription	Esophagus	oesophagus
20	chr4:166142800-166176800	Weak transcription	Duodenum Mucosa	Duodenum
21	chr4:166143600-166156600	Weak transcription	Fetal Muscle Leg	muscle
22	chr4:166143800-166159400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr4:166144000-166153600	Weak transcription	GM12878-XiMat	blood
24	chr4:166144000-166153800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr4:166144000-166156600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr4:166144000-166159400	Weak transcription	Brain Cingulate Gyrus	brain
27	chr4:166144000-166161200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr4:166144000-166162400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr4:166144000-166163200	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr4:166144000-166165000	Weak transcription	Primary B cells from cord blood	blood
31	chr4:166144000-166165400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr4:166144000-166176000	Weak transcription	Brain Hippocampus Middle	brain
33	chr4:166144200-166155800	Weak transcription	HepG2	liver
34	chr4:166144200-166160200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr4:166144200-166168800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr4:166144200-166168800	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr4:166144200-166168800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr4:166144600-166153800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr4:166144600-166159200	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr4:166144600-166159200	Weak transcription	Brain Anterior Caudate	brain
41	chr4:166144600-166159200	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr4:166144600-166159800	Weak transcription	Adipose Nuclei	Adipose
43	chr4:166144600-166218800	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr4:166144800-166152400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr4:166144800-166153600	Weak transcription	NHEK	skin
46	chr4:166144800-166159200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr4:166144800-166159400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr4:166144800-166159400	Weak transcription	Liver	Liver
49	chr4:166144800-166176200	Weak transcription	Primary hematopoietic stem cells	blood
50	chr4:166145200-166153600	Weak transcription	HUVEC	blood vessel

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