Variant report

Variant	rs4367519
Chromosome Location	chr8:124666429-124666430
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr8:124665458-124666702	IMR90	lung:	n/a	n/a

Variant related genes	Relation type
KLHL38	TF binding region

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10505438	0.82[CEU][hapmap];0.92[CHB][hapmap];0.92[JPT][hapmap];0.91[ASN][1000 genomes]
rs10505439	0.82[CEU][hapmap];0.92[CHB][hapmap];0.92[JPT][hapmap];0.92[ASN][1000 genomes]
rs10956143	0.82[CEU][hapmap];0.85[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs13252050	0.82[JPT][hapmap]
rs16898668	0.84[ASN][1000 genomes]
rs16898685	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs16898686	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs16898687	0.82[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.94[ASN][1000 genomes]
rs16898689	0.82[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.95[ASN][1000 genomes]
rs16898691	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs56737136	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs58763139	0.91[ASN][1000 genomes]
rs61264957	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs62518569	0.95[ASN][1000 genomes]
rs66970129	0.91[ASN][1000 genomes]
rs72711231	0.88[ASN][1000 genomes]
rs72711243	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72711245	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72711246	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72711249	0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs72713110	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs72713116	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs9642868	0.88[ASN][1000 genomes]
rs9643183	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv612140	chr8:124604759-124738618	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv1032155	chr8:124609702-124739559	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv1841310	chr8:124664130-124666429	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv1841904	chr8:124664130-124676037	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124656800-124666800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr8:124659400-124667000	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr8:124661200-124670000	Weak transcription	Duodenum Mucosa	Duodenum
4	chr8:124664000-124668000	Flanking Active TSS	Stomach Smooth Muscle	stomach
5	chr8:124664200-124667800	Enhancers	Placenta	Placenta
6	chr8:124664200-124668200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr8:124664200-124668400	Enhancers	Ovary	ovary
8	chr8:124664200-124669000	Enhancers	Fetal Stomach	stomach
9	chr8:124664400-124666600	Active TSS	Left Ventricle	heart
10	chr8:124664600-124667000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr8:124664800-124666600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr8:124665000-124667000	Enhancers	Fetal Intestine Small	intestine
13	chr8:124665000-124667200	Weak transcription	Brain Cingulate Gyrus	brain
14	chr8:124665000-124669400	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr8:124665200-124667000	Weak transcription	Esophagus	oesophagus
16	chr8:124665200-124667200	Enhancers	Fetal Lung	lung
17	chr8:124665200-124667800	Enhancers	NHDF-Ad	bronchial
18	chr8:124665400-124667600	Enhancers	Brain Angular Gyrus	brain
19	chr8:124665400-124668000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr8:124665400-124668200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr8:124665400-124668400	Enhancers	Fetal Intestine Large	intestine
22	chr8:124665600-124666600	Enhancers	Osteobl	bone
23	chr8:124665600-124667000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr8:124665800-124666600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr8:124665800-124666800	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr8:124666000-124666600	Flanking Active TSS	HepG2	liver
27	chr8:124666000-124666800	Enhancers	HSMM	muscle
28	chr8:124666000-124667600	Enhancers	Right Atrium	heart
29	chr8:124666200-124666600	Flanking Active TSS	Fetal Muscle Trunk	muscle
30	chr8:124666200-124666600	Flanking Active TSS	HSMMtube	muscle
31	chr8:124666200-124666800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr8:124666200-124666800	Flanking Active TSS	Aorta	Aorta
33	chr8:124666200-124666800	Flanking Active TSS	Colon Smooth Muscle	Colon
34	chr8:124666200-124667600	Flanking Active TSS	Fetal Heart	heart
35	chr8:124666200-124667600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
36	chr8:124666200-124668000	Flanking Active TSS	Rectal Smooth Muscle	rectum
37	chr8:124666200-124668200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
38	chr8:124666200-124669400	Weak transcription	HMEC	breast
39	chr8:124666200-124669600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr8:124666200-124674000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr8:124666400-124666600	Flanking Active TSS	Fetal Brain Male	brain
42	chr8:124666400-124666600	Enhancers	Lung	lung
43	chr8:124666400-124666600	Weak transcription	Psoas Muscle	Psoas
44	chr8:124666400-124666600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
45	chr8:124666400-124666600	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr8:124666400-124666800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr8:124666400-124667000	Enhancers	NHLF	lung
48	chr8:124666400-124668000	Enhancers	Right Ventricle	heart
49	chr8:124666400-124669200	Weak transcription	NHEK	skin
50	chr8:124666400-124669600	Weak transcription	NH-A	brain

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