Variant report

Variant	rs10956142
Chromosome Location	chr8:124666349-124666350
allele	A/G
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	FOXA1	chr8:124665859-124666388	T-47D	breast:	n/a	n/a
2	RAD21	chr8:124665859-124666416	IMR90	lung:	n/a	n/a
3	MAX	chr8:124665934-124666367	HepG2	liver:	n/a	chr8:124666160-124666169
4	FOXA1	chr8:124665894-124666396	HepG2	liver:	n/a	n/a
5	MAZ	chr8:124666307-124666371	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr8:124665770-124666418	MCF10A-Er-Src	breast:	n/a	n/a
7	MAFK	chr8:124665997-124666379	HepG2	liver:	n/a	chr8:124666172-124666189
8	MAX	chr8:124665808-124666383	HepG2	liver:	n/a	chr8:124666160-124666169
9	FOXA1	chr8:124665800-124666387	T-47D	breast:	n/a	n/a
10	MXI1	chr8:124665458-124666702	IMR90	lung:	n/a	n/a

Variant related genes	Relation type
KLHL38	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10094484	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10109736	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10429327	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11783892	0.82[EUR][1000 genomes]
rs11784149	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12550643	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4260879	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4455809	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4871405	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55802621	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6470171	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6994286	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7386679	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7835500	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[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:51 , 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	chr8:124661200-124666400	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr8:124661200-124670000	Weak transcription	Duodenum Mucosa	Duodenum
5	chr8:124664000-124668000	Flanking Active TSS	Stomach Smooth Muscle	stomach
6	chr8:124664200-124667800	Enhancers	Placenta	Placenta
7	chr8:124664200-124668200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr8:124664200-124668400	Enhancers	Ovary	ovary
9	chr8:124664200-124669000	Enhancers	Fetal Stomach	stomach
10	chr8:124664400-124666400	Active TSS	Psoas Muscle	Psoas
11	chr8:124664400-124666600	Active TSS	Left Ventricle	heart
12	chr8:124664600-124666400	Weak transcription	Lung	lung
13	chr8:124664600-124667000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr8:124664800-124666400	Enhancers	Fetal Brain Male	brain
15	chr8:124664800-124666600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr8:124665000-124667000	Enhancers	Fetal Intestine Small	intestine
17	chr8:124665000-124667200	Weak transcription	Brain Cingulate Gyrus	brain
18	chr8:124665000-124669400	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr8:124665200-124667000	Weak transcription	Esophagus	oesophagus
20	chr8:124665200-124667200	Enhancers	Fetal Lung	lung
21	chr8:124665200-124667800	Enhancers	NHDF-Ad	bronchial
22	chr8:124665400-124667600	Enhancers	Brain Angular Gyrus	brain
23	chr8:124665400-124668000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr8:124665400-124668200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr8:124665400-124668400	Enhancers	Fetal Intestine Large	intestine
26	chr8:124665600-124666600	Enhancers	Osteobl	bone
27	chr8:124665600-124667000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr8:124665800-124666400	Active TSS	Right Ventricle	heart
29	chr8:124665800-124666400	Enhancers	NH-A	brain
30	chr8:124665800-124666400	Enhancers	NHEK	skin
31	chr8:124665800-124666600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr8:124665800-124666800	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr8:124666000-124666400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr8:124666000-124666600	Flanking Active TSS	HepG2	liver
35	chr8:124666000-124666800	Enhancers	HSMM	muscle
36	chr8:124666000-124667600	Enhancers	Right Atrium	heart
37	chr8:124666200-124666400	Flanking Active TSS	Fetal Muscle Leg	muscle
38	chr8:124666200-124666400	Active TSS	Rectal Mucosa Donor 29	rectum
39	chr8:124666200-124666400	Flanking Active TSS	NHLF	lung
40	chr8:124666200-124666600	Flanking Active TSS	Fetal Muscle Trunk	muscle
41	chr8:124666200-124666600	Flanking Active TSS	HSMMtube	muscle
42	chr8:124666200-124666800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr8:124666200-124666800	Flanking Active TSS	Aorta	Aorta
44	chr8:124666200-124666800	Flanking Active TSS	Colon Smooth Muscle	Colon
45	chr8:124666200-124667600	Flanking Active TSS	Fetal Heart	heart
46	chr8:124666200-124667600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
47	chr8:124666200-124668000	Flanking Active TSS	Rectal Smooth Muscle	rectum
48	chr8:124666200-124668200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
49	chr8:124666200-124669400	Weak transcription	HMEC	breast
50	chr8:124666200-124669600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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