Variant report

Variant	rs5762930
Chromosome Location	chr22:29378708-29378709
allele	A/C
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	MYBL2	chr22:29377726-29378721	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ZNRF3	TF binding region

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs11912198	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11912894	1.00[CEU][hapmap]
rs11913805	1.00[CEU][hapmap]
rs12169126	0.89[AFR][1000 genomes]
rs16986908	0.89[EUR][1000 genomes]
rs16986912	0.89[EUR][1000 genomes]
rs16986925	1.00[MEX][hapmap];0.89[EUR][1000 genomes]
rs16986971	0.89[EUR][1000 genomes]
rs16986990	1.00[MEX][hapmap];1.00[TSI][hapmap]
rs16987065	1.00[CEU][hapmap]
rs16987067	1.00[CEU][hapmap]
rs16987167	1.00[CEU][hapmap]
rs41382448	1.00[CEU][hapmap]
rs4508707	1.00[CEU][hapmap]
rs5752840	1.00[JPT][hapmap]
rs5752848	0.96[ASN][1000 genomes]
rs5752850	0.90[CHB][hapmap];0.91[JPT][hapmap];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5762883	0.91[JPT][hapmap]
rs5762919	0.86[LWK][hapmap];1.00[MKK][hapmap];0.85[YRI][hapmap];0.88[AFR][1000 genomes]
rs5762922	0.88[ASN][1000 genomes]
rs5762923	0.80[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs5762925	0.94[LWK][hapmap];0.93[MKK][hapmap];0.95[YRI][hapmap]
rs5762926	0.90[CHB][hapmap];0.90[JPT][hapmap];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5762928	0.80[CHB][hapmap];0.91[JPT][hapmap];0.86[ASN][1000 genomes]
rs5762929	0.90[CHB][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs5762931	1.00[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5762932	0.80[CHB][hapmap];0.91[JPT][hapmap];0.80[ASN][1000 genomes]
rs5762938	0.90[CHB][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5762944	0.96[ASN][1000 genomes]
rs61697201	0.94[AFR][1000 genomes]
rs722590	1.00[CEU][hapmap]
rs725281	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs7287755	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs8137391	1.00[MEX][hapmap];1.00[TSI][hapmap]
rs8138320	1.00[CEU][hapmap]
rs8138963	1.00[CEU][hapmap]
rs8139248	1.00[CEU][hapmap]
rs8140511	1.00[CEU][hapmap]
rs8140748	1.00[CEU][hapmap]
rs8141696	1.00[CEU][hapmap]
rs8141812	1.00[CEU][hapmap]
rs974370	1.00[CEU][hapmap];0.82[YRI][hapmap]

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	nsv1064079	chr22:29065528-29456059	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
2	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29365800-29394800	Weak transcription	Pancreas	Pancrea
2	chr22:29366000-29379000	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr22:29369600-29378800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr22:29372400-29379200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr22:29373400-29381400	Weak transcription	Fetal Stomach	stomach
6	chr22:29373400-29390800	Weak transcription	Hela-S3	cervix
7	chr22:29373600-29400200	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr22:29373800-29379000	Weak transcription	Placenta	Placenta
9	chr22:29374200-29379200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr22:29374200-29381600	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr22:29374200-29383000	Weak transcription	Ovary	ovary
12	chr22:29374400-29379200	Weak transcription	Fetal Lung	lung
13	chr22:29374400-29395200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr22:29374600-29379000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr22:29374600-29379200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr22:29374600-29379200	Weak transcription	Aorta	Aorta
17	chr22:29374600-29379400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr22:29374600-29380600	Weak transcription	Right Atrium	heart
19	chr22:29374600-29381400	Enhancers	Liver	Liver
20	chr22:29374600-29385000	Weak transcription	Rectal Smooth Muscle	rectum
21	chr22:29374600-29395600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr22:29374600-29400000	Weak transcription	Right Ventricle	heart
23	chr22:29374600-29401200	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr22:29374800-29378800	Weak transcription	NHEK	skin
25	chr22:29374800-29384400	Weak transcription	Osteobl	bone
26	chr22:29375000-29379000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr22:29375200-29378800	Weak transcription	HMEC	breast
28	chr22:29375200-29385200	Weak transcription	Brain Substantia Nigra	brain
29	chr22:29375400-29379200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr22:29375400-29379600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr22:29375600-29379000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr22:29375600-29383000	Weak transcription	Left Ventricle	heart
33	chr22:29375600-29390800	Weak transcription	NHDF-Ad	bronchial
34	chr22:29375800-29378800	Weak transcription	Brain Anterior Caudate	brain
35	chr22:29375800-29378800	Weak transcription	Fetal Muscle Leg	muscle
36	chr22:29375800-29378800	Weak transcription	HSMM	muscle
37	chr22:29375800-29379200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr22:29375800-29379200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr22:29375800-29379200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr22:29375800-29379200	Weak transcription	Esophagus	oesophagus
41	chr22:29375800-29379200	Weak transcription	Fetal Muscle Trunk	muscle
42	chr22:29375800-29379200	Weak transcription	Lung	lung
43	chr22:29375800-29379800	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr22:29375800-29381400	Weak transcription	Fetal Intestine Small	intestine
45	chr22:29375800-29383000	Weak transcription	Duodenum Mucosa	Duodenum
46	chr22:29375800-29383200	Weak transcription	Brain Hippocampus Middle	brain
47	chr22:29375800-29383200	Weak transcription	Fetal Intestine Large	intestine
48	chr22:29375800-29395400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr22:29376000-29379000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr22:29376200-29379200	Weak transcription	HUES64 Cell Line	embryonic stem cell

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