Variant report

Variant	rs28678193
Chromosome Location	chr4:166231868-166231869
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	chr4:166229971..166232321-chr4:166248214..166250094,2	MCF-7	breast:
2	chr4:166225784..166228128-chr4:166228647..166232526,3	K562	blood:

Variant related genes	Relation type
ENSG00000052802	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10009994	0.91[EUR][1000 genomes]
rs10015240	0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13353543	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3756015	0.85[EUR][1000 genomes]
rs57720293	0.92[EUR][1000 genomes]
rs60759634	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6536903	0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6828824	0.92[EUR][1000 genomes]
rs7698056	0.94[EUR][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
rs28678193	KLHL2	cis	Artery Tibial	GTEx

Chromatin state (count:103 , 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	chr4:166218000-166232200	Weak transcription	Fetal Heart	heart
5	chr4:166219200-166240400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr4:166219400-166246600	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr4:166219400-166246600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr4:166219600-166233800	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr4:166219600-166246800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr4:166220000-166232400	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr4:166220000-166232600	Weak transcription	Left Ventricle	heart
12	chr4:166220000-166246600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr4:166220000-166247000	Weak transcription	Spleen	Spleen
14	chr4:166220000-166247400	Weak transcription	Fetal Stomach	stomach
15	chr4:166220000-166247800	Weak transcription	Right Ventricle	heart
16	chr4:166221200-166232200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr4:166221200-166235200	Weak transcription	Fetal Intestine Large	intestine
18	chr4:166223400-166232600	Weak transcription	Pancreas	Pancrea
19	chr4:166223400-166232600	Weak transcription	HepG2	liver
20	chr4:166223400-166236400	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr4:166223400-166244800	Weak transcription	HUVEC	blood vessel
22	chr4:166223400-166246400	Weak transcription	Duodenum Mucosa	Duodenum
23	chr4:166223400-166246600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr4:166223400-166246600	Weak transcription	Esophagus	oesophagus
25	chr4:166223400-166246600	Weak transcription	HSMM	muscle
26	chr4:166223400-166246600	Weak transcription	HSMMtube	muscle
27	chr4:166223400-166246800	Weak transcription	Ovary	ovary
28	chr4:166223400-166247400	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr4:166223400-166247600	Weak transcription	Thymus	Thymus
30	chr4:166223400-166247800	Weak transcription	Aorta	Aorta
31	chr4:166223400-166248000	Weak transcription	Gastric	stomach
32	chr4:166223600-166232200	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr4:166223600-166234400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr4:166223600-166239000	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr4:166223600-166240200	Weak transcription	Brain Hippocampus Middle	brain
36	chr4:166223600-166246600	Weak transcription	GM12878-XiMat	blood
37	chr4:166223600-166247000	Weak transcription	Brain Anterior Caudate	brain
38	chr4:166223600-166247200	Weak transcription	Brain Angular Gyrus	brain
39	chr4:166223600-166247200	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr4:166223600-166247400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr4:166223600-166247400	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr4:166223600-166247600	Weak transcription	Fetal Lung	lung
43	chr4:166223800-166247600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr4:166224200-166235200	Weak transcription	Brain Cingulate Gyrus	brain
45	chr4:166224200-166247400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr4:166224200-166247600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr4:166224400-166247600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr4:166229600-166237800	Strong transcription	Primary neutrophils fromperipheralblood	blood
49	chr4:166229600-166238200	Strong transcription	Primary B cells from cord blood	blood
50	chr4:166230000-166233200	Weak transcription	NHLF	lung

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