Variant report

Variant	rs17686529
Chromosome Location	chr4:166267383-166267384
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:166052208..166052989-chr4:166267211..166267831,3	MCF-7	breast:
2	chr4:166260940..166262583-chr4:166265474..166268224,2	K562	blood:
3	chr4:166052342..166053351-chr4:166266832..166267864,6	MCF-7	breast:
4	chr4:166262631..166267437-chr4:166267990..166271315,4	K562	blood:
5	chr4:166248172..166250457-chr4:166265165..166267668,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000052802	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12498302	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12501541	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12509710	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12512757	0.81[AMR][1000 genomes]
rs12513198	0.80[GIH][hapmap]
rs13113058	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1438116	0.81[ASN][1000 genomes]
rs1550270	0.90[CHB][hapmap];0.97[CHD][hapmap];0.81[JPT][hapmap];0.92[MEX][hapmap];0.88[MKK][hapmap];0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs1866218	0.80[JPT][hapmap]
rs2322292	0.81[JPT][hapmap]
rs35411578	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4691183	0.90[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs62352298	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7667236	0.90[CHB][hapmap];0.84[CHD][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs7669547	0.81[ASW][hapmap];0.90[CEU][hapmap];0.85[CHB][hapmap];0.97[CHD][hapmap];0.83[GIH][hapmap];0.81[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];0.81[TSI][hapmap];0.86[YRI][hapmap];0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7670057	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7690328	0.84[CHD][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs8733	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[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	esv1847399	chr4:166259587-166284836	Strong transcription Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
2	esv2763404	chr4:166265940-166275340	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17686529	KLHL2	cis	cerebellum	SCAN

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:166252200-166269200	Weak transcription	Stomach Mucosa	stomach
2	chr4:166252200-166269400	Weak transcription	Gastric	stomach
3	chr4:166253400-166272600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr4:166254000-166269400	Weak transcription	Fetal Heart	heart
5	chr4:166259000-166267800	Weak transcription	Fetal Brain Male	brain
6	chr4:166260600-166268400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr4:166261400-166272600	Weak transcription	HSMMtube	muscle
8	chr4:166261600-166267400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr4:166261600-166272800	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr4:166261800-166267600	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr4:166261800-166267800	Weak transcription	Brain Germinal Matrix	brain
12	chr4:166262000-166267400	Weak transcription	HepG2	liver
13	chr4:166262000-166268000	Weak transcription	Stomach Smooth Muscle	stomach
14	chr4:166262000-166268200	Weak transcription	Fetal Lung	lung
15	chr4:166263200-166269200	Weak transcription	K562	blood
16	chr4:166263200-166280400	Weak transcription	Adipose Nuclei	Adipose
17	chr4:166263400-166272800	Weak transcription	NH-A	brain
18	chr4:166264000-166269000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr4:166264000-166271600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr4:166264000-166274600	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr4:166264200-166274800	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr4:166264400-166270200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr4:166264600-166269000	Weak transcription	Liver	Liver
24	chr4:166265200-166267600	Weak transcription	Primary B cells from cord blood	blood
25	chr4:166265200-166269000	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr4:166265200-166269400	Weak transcription	Duodenum Mucosa	Duodenum
27	chr4:166265200-166269600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr4:166265200-166269800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr4:166265200-166270000	Weak transcription	HMEC	breast
30	chr4:166265200-166271000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr4:166265200-166272400	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr4:166265400-166267400	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr4:166265400-166267400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr4:166265400-166267600	Weak transcription	Dnd41	blood
35	chr4:166265400-166267800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr4:166265400-166268000	Weak transcription	HUVEC	blood vessel
37	chr4:166265400-166269400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr4:166265400-166269800	Weak transcription	Primary B cells from peripheral blood	blood
39	chr4:166265400-166270000	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr4:166266800-166267600	Enhancers	Brain Cingulate Gyrus	brain
41	chr4:166267000-166267800	Enhancers	Ovary	ovary
42	chr4:166267000-166272800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr4:166267200-166267800	Active TSS	Brain Anterior Caudate	brain

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