Variant report

Variant	rs17585515
Chromosome Location	chr4:166167150-166167151
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10213277	0.86[CEU][hapmap];0.94[EUR][1000 genomes]
rs10517833	0.95[CEU][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11725167	0.83[CEU][hapmap];0.83[EUR][1000 genomes]
rs12108446	0.94[EUR][1000 genomes]
rs17488289	0.81[CEU][hapmap];1.00[YRI][hapmap];0.98[EUR][1000 genomes]
rs17488436	0.95[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17585396	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[EUR][1000 genomes]
rs17585550	0.95[CEU][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1818471	0.95[CEU][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs28472332	0.86[EUR][1000 genomes]
rs4588420	1.00[YRI][hapmap]
rs55648903	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs55650232	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55806488	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56058696	0.89[AFR][1000 genomes];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs56104713	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs56144732	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56287687	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56407727	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56410965	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs58426709	0.95[EUR][1000 genomes]
rs58781490	0.84[EUR][1000 genomes]
rs6831119	0.90[EUR][1000 genomes]
rs6853219	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs72699595	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72699598	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72701606	0.92[EUR][1000 genomes]
rs72701616	0.87[EUR][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	nsv966337	chr4:166157947-166176361	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17585515	KLHL2	cis	Artery Tibial	GTEx

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:166129600-166196800	Weak transcription	Pancreas	Pancrea
2	chr4:166130400-166176800	Weak transcription	Fetal Intestine Small	intestine
3	chr4:166130600-166200800	Weak transcription	Lung	lung
4	chr4:166131600-166196800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr4:166132200-166193800	Weak transcription	Fetal Brain Female	brain
6	chr4:166136000-166176800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr4:166137800-166194200	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr4:166138200-166168800	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr4:166138400-166185600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr4:166142800-166176800	Weak transcription	Duodenum Mucosa	Duodenum
11	chr4:166144000-166176000	Weak transcription	Brain Hippocampus Middle	brain
12	chr4:166144200-166168800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr4:166144200-166168800	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr4:166144200-166168800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr4:166144600-166218800	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr4:166144800-166176200	Weak transcription	Primary hematopoietic stem cells	blood
17	chr4:166147000-166176400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr4:166151200-166168400	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr4:166151200-166176000	Weak transcription	Dnd41	blood
20	chr4:166151400-166168400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr4:166152000-166176600	Weak transcription	Fetal Stomach	stomach
22	chr4:166152200-166169400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr4:166154000-166169200	Weak transcription	HUVEC	blood vessel
24	chr4:166154600-166168800	Weak transcription	Primary T cells from cord blood	blood
25	chr4:166156200-166199200	Weak transcription	Ovary	ovary
26	chr4:166159200-166169000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr4:166159400-166173200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr4:166159400-166175800	Weak transcription	GM12878-XiMat	blood
29	chr4:166159800-166167200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr4:166159800-166170400	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr4:166159800-166176000	Weak transcription	Primary B cells from peripheral blood	blood
32	chr4:166160000-166169400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr4:166161200-166167200	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr4:166161200-166168800	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr4:166161200-166169000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr4:166161200-166176800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr4:166161600-166169800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr4:166161600-166176400	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr4:166162200-166170400	Weak transcription	NHEK	skin
40	chr4:166162800-166169400	Weak transcription	HMEC	breast
41	chr4:166163000-166169600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr4:166165400-166167400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr4:166166000-166167800	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr4:166166000-166168800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr4:166166000-166169000	Weak transcription	Primary B cells from cord blood	blood
46	chr4:166166400-166168200	Weak transcription	Liver	Liver
47	chr4:166166600-166169200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr4:166166600-166169400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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