Variant report

Variant	rs995486
Chromosome Location	chr22:28645764-28645765
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	chr22:28643886..28646105-chr22:28647458..28649434,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10483147	1.00[AMR][1000 genomes]
rs16986165	1.00[AMR][1000 genomes]
rs16986186	1.00[AMR][1000 genomes]
rs16986234	1.00[AMR][1000 genomes]
rs57490474	1.00[AMR][1000 genomes]
rs60360755	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73882717	0.92[AFR][1000 genomes]
rs73882719	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73882722	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73882723	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73882724	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73882738	0.84[AFR][1000 genomes]
rs7511189	1.00[AFR][1000 genomes];1.00[AMR][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:55 , 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	chr22:28639400-28645800	Enhancers	Fetal Heart	heart
4	chr22:28640800-28646200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr22:28641000-28646800	Weak transcription	Small Intestine	intestine
6	chr22:28641000-28655800	Weak transcription	Fetal Kidney	kidney
7	chr22:28641200-28648400	Weak transcription	Fetal Brain Male	brain
8	chr22:28642000-28648200	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr22:28642400-28646800	Enhancers	K562	blood
10	chr22:28642400-28649400	Weak transcription	Fetal Intestine Large	intestine
11	chr22:28642800-28647400	Weak transcription	HepG2	liver
12	chr22:28643200-28646200	Weak transcription	Primary T cells from cord blood	blood
13	chr22:28643400-28646400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr22:28643400-28649400	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr22:28643400-28651800	Weak transcription	HSMMtube	muscle
16	chr22:28643600-28646400	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr22:28643600-28652400	Weak transcription	Fetal Muscle Trunk	muscle
18	chr22:28643600-28652600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr22:28644000-28645800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr22:28644000-28646000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr22:28644000-28653200	Weak transcription	NHLF	lung
22	chr22:28644200-28648400	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr22:28644200-28648600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr22:28644200-28652600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr22:28644200-28656600	Weak transcription	Left Ventricle	heart
26	chr22:28644200-28661400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr22:28644400-28649400	Weak transcription	Gastric	stomach
28	chr22:28644400-28652600	Weak transcription	Fetal Lung	lung
29	chr22:28644400-28652600	Weak transcription	Fetal Muscle Leg	muscle
30	chr22:28644400-28652600	Weak transcription	Fetal Stomach	stomach
31	chr22:28644400-28662400	Weak transcription	Psoas Muscle	Psoas
32	chr22:28644600-28655400	Weak transcription	Brain Substantia Nigra	brain
33	chr22:28644800-28645800	Enhancers	Adipose Nuclei	Adipose
34	chr22:28645000-28645800	Enhancers	NHDF-Ad	bronchial
35	chr22:28645000-28655600	Weak transcription	Brain Cingulate Gyrus	brain
36	chr22:28645200-28647000	Weak transcription	Stomach Mucosa	stomach
37	chr22:28645200-28648600	Weak transcription	Brain Hippocampus Middle	brain
38	chr22:28645400-28645800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr22:28645400-28645800	Weak transcription	HSMM	muscle
40	chr22:28645400-28649600	Weak transcription	Fetal Intestine Small	intestine
41	chr22:28645600-28645800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr22:28645600-28645800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr22:28645600-28645800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
44	chr22:28645600-28645800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
45	chr22:28645600-28645800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
46	chr22:28645600-28645800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr22:28645600-28645800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr22:28645600-28645800	ZNF genes & repeats	Aorta	Aorta
49	chr22:28645600-28645800	Enhancers	Brain Germinal Matrix	brain
50	chr22:28645600-28645800	Enhancers	Right Atrium	heart

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