Variant report

Variant	rs738995
Chromosome Location	chr22:28643884-28643885
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10427676	0.85[EUR][1000 genomes]
rs134527	0.95[JPT][hapmap]
rs134544	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs17412920	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs28865637	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55916256	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5752729	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[EUR][1000 genomes]
rs5762532	0.96[CEU][hapmap];0.82[EUR][1000 genomes]
rs5762572	0.86[EUR][1000 genomes]
rs5762622	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs695388	0.90[JPT][hapmap]
rs7288416	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap]
rs738199	0.86[CEU][hapmap]
rs9306454	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9306455	0.83[EUR][1000 genomes]
rs9608667	0.92[CEU][hapmap]
rs9613570	0.96[CEU][hapmap];0.94[CHB][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062877	chr22:28163507-28866350	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv459866	chr22:28540492-28753833	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv588879	chr22:28540492-28753833	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28618400-28662200	Weak transcription	Pancreas	Pancrea
2	chr22:28635600-28650800	Weak transcription	Dnd41	blood
3	chr22:28639400-28644000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr22:28639400-28644200	Enhancers	Osteobl	bone
5	chr22:28639400-28645800	Enhancers	Fetal Heart	heart
6	chr22:28639600-28644000	Enhancers	NH-A	brain
7	chr22:28640800-28644000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
8	chr22:28640800-28644200	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr22:28640800-28646200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr22:28641000-28644000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr22:28641000-28645600	Weak transcription	Aorta	Aorta
12	chr22:28641000-28646800	Weak transcription	Small Intestine	intestine
13	chr22:28641000-28655800	Weak transcription	Fetal Kidney	kidney
14	chr22:28641200-28648400	Weak transcription	Fetal Brain Male	brain
15	chr22:28641400-28644000	Enhancers	NHLF	lung
16	chr22:28641400-28644200	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr22:28641600-28645000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr22:28641800-28644200	Weak transcription	Stomach Mucosa	stomach
19	chr22:28641800-28644600	Weak transcription	Duodenum Mucosa	Duodenum
20	chr22:28641800-28644600	Weak transcription	Fetal Intestine Small	intestine
21	chr22:28642000-28648200	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr22:28642400-28644400	Enhancers	Fetal Stomach	stomach
23	chr22:28642400-28646800	Enhancers	K562	blood
24	chr22:28642400-28649400	Weak transcription	Fetal Intestine Large	intestine
25	chr22:28642600-28644400	Enhancers	Psoas Muscle	Psoas
26	chr22:28642600-28644600	Weak transcription	A549	lung
27	chr22:28642800-28644600	Enhancers	Brain Substantia Nigra	brain
28	chr22:28642800-28645000	Enhancers	Brain Anterior Caudate	brain
29	chr22:28642800-28647400	Weak transcription	HepG2	liver
30	chr22:28643000-28644000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
31	chr22:28643000-28644200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr22:28643000-28644200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr22:28643000-28644200	Enhancers	Left Ventricle	heart
34	chr22:28643000-28644400	Enhancers	Fetal Muscle Leg	muscle
35	chr22:28643000-28644400	Enhancers	Gastric	stomach
36	chr22:28643000-28645200	Enhancers	Brain Hippocampus Middle	brain
37	chr22:28643200-28644000	Enhancers	Brain Cingulate Gyrus	brain
38	chr22:28643200-28644200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
39	chr22:28643200-28644400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr22:28643200-28644400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr22:28643200-28644400	Enhancers	Fetal Lung	lung
42	chr22:28643200-28644400	Enhancers	Right Ventricle	heart
43	chr22:28643200-28644600	Enhancers	Brain Angular Gyrus	brain
44	chr22:28643200-28644800	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr22:28643200-28645200	Weak transcription	HSMM	muscle
46	chr22:28643200-28646200	Weak transcription	Primary T cells from cord blood	blood
47	chr22:28643400-28644200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
48	chr22:28643400-28644200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr22:28643400-28644400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
50	chr22:28643400-28644600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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