Variant report

Variant	rs28678592
Chromosome Location	chr4:166232437-166232438
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	chr4:166225784..166228128-chr4:166228647..166232526,3	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10009994	0.92[CEU][hapmap]
rs10517833	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs11726415	1.00[CHB][hapmap]
rs13353819	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1530043	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17046216	1.00[CHB][hapmap]
rs17488289	1.00[CHB][hapmap]
rs17488436	1.00[CHB][hapmap]
rs17488534	1.00[CHB][hapmap]
rs17488569	1.00[CHB][hapmap]
rs17585396	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs17585550	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs1818471	1.00[CHB][hapmap]
rs34317779	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3756015	0.92[CEU][hapmap]
rs3890624	0.81[EUR][1000 genomes]
rs4588420	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.87[MEX][hapmap];0.93[TSI][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55672136	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56022310	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56058314	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56245360	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56326646	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs57162477	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6536903	0.85[CEU][hapmap]
rs67414450	0.86[EUR][1000 genomes]
rs6828824	0.89[CEU][hapmap]
rs72701608	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72701615	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72701616	0.81[EUR][1000 genomes]
rs72701618	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7680096	1.00[CHD][hapmap]
rs7681175	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7698056	0.89[CEU][hapmap]
rs934815	0.86[EUR][1000 genomes];0.93[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
rs28678592	KLHL2	cis	Artery Tibial	GTEx

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:166214400-166246600	Weak transcription	Placenta	Placenta
2	chr4:166216000-166236800	Weak transcription	Colonic Mucosa	Colon
3	chr4:166216400-166240200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr4:166219200-166240400	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr4:166219400-166246600	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr4:166219400-166246600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr4:166219600-166233800	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr4:166219600-166246800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr4:166220000-166232600	Weak transcription	Left Ventricle	heart
10	chr4:166220000-166246600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr4:166220000-166247000	Weak transcription	Spleen	Spleen
12	chr4:166220000-166247400	Weak transcription	Fetal Stomach	stomach
13	chr4:166220000-166247800	Weak transcription	Right Ventricle	heart
14	chr4:166221200-166235200	Weak transcription	Fetal Intestine Large	intestine
15	chr4:166223400-166232600	Weak transcription	Pancreas	Pancrea
16	chr4:166223400-166232600	Weak transcription	HepG2	liver
17	chr4:166223400-166236400	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr4:166223400-166244800	Weak transcription	HUVEC	blood vessel
19	chr4:166223400-166246400	Weak transcription	Duodenum Mucosa	Duodenum
20	chr4:166223400-166246600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr4:166223400-166246600	Weak transcription	Esophagus	oesophagus
22	chr4:166223400-166246600	Weak transcription	HSMM	muscle
23	chr4:166223400-166246600	Weak transcription	HSMMtube	muscle
24	chr4:166223400-166246800	Weak transcription	Ovary	ovary
25	chr4:166223400-166247400	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr4:166223400-166247600	Weak transcription	Thymus	Thymus
27	chr4:166223400-166247800	Weak transcription	Aorta	Aorta
28	chr4:166223400-166248000	Weak transcription	Gastric	stomach
29	chr4:166223600-166234400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr4:166223600-166239000	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr4:166223600-166240200	Weak transcription	Brain Hippocampus Middle	brain
32	chr4:166223600-166246600	Weak transcription	GM12878-XiMat	blood
33	chr4:166223600-166247000	Weak transcription	Brain Anterior Caudate	brain
34	chr4:166223600-166247200	Weak transcription	Brain Angular Gyrus	brain
35	chr4:166223600-166247200	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr4:166223600-166247400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr4:166223600-166247400	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr4:166223600-166247600	Weak transcription	Fetal Lung	lung
39	chr4:166223800-166247600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr4:166224200-166235200	Weak transcription	Brain Cingulate Gyrus	brain
41	chr4:166224200-166247400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr4:166224200-166247600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr4:166224400-166247600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr4:166229600-166237800	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr4:166229600-166238200	Strong transcription	Primary B cells from cord blood	blood
46	chr4:166230000-166233200	Weak transcription	NHLF	lung
47	chr4:166230000-166240400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr4:166230000-166241800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr4:166230200-166233000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr4:166230200-166233000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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