Variant report

Variant	rs8142398
Chromosome Location	chr22:28648605-28648606
allele	A/C
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: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs13055501	0.87[AFR][1000 genomes]
rs13056121	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13056319	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13056425	0.94[EUR][1000 genomes]
rs13057182	1.00[EUR][1000 genomes]
rs13057685	0.91[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs13057692	0.93[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs13058473	0.94[EUR][1000 genomes]
rs16986197	0.81[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs2142917	0.94[EUR][1000 genomes]
rs28360522	0.87[AFR][1000 genomes]
rs34176007	0.94[EUR][1000 genomes]
rs34262300	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34453094	1.00[EUR][1000 genomes]
rs34783791	0.81[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs34925495	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34962554	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35051985	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35738822	0.94[EUR][1000 genomes]
rs35812775	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71325290	0.88[EUR][1000 genomes]
rs8138142	0.91[AFR][1000 genomes]
rs8141981	0.87[AFR][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:38 , 50 per page) page: 1

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	chr22:28641000-28655800	Weak transcription	Fetal Kidney	kidney
4	chr22:28642400-28649400	Weak transcription	Fetal Intestine Large	intestine
5	chr22:28643400-28649400	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr22:28643400-28651800	Weak transcription	HSMMtube	muscle
7	chr22:28643600-28652400	Weak transcription	Fetal Muscle Trunk	muscle
8	chr22:28643600-28652600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr22:28644000-28653200	Weak transcription	NHLF	lung
10	chr22:28644200-28652600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr22:28644200-28656600	Weak transcription	Left Ventricle	heart
12	chr22:28644200-28661400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr22:28644400-28649400	Weak transcription	Gastric	stomach
14	chr22:28644400-28652600	Weak transcription	Fetal Lung	lung
15	chr22:28644400-28652600	Weak transcription	Fetal Muscle Leg	muscle
16	chr22:28644400-28652600	Weak transcription	Fetal Stomach	stomach
17	chr22:28644400-28662400	Weak transcription	Psoas Muscle	Psoas
18	chr22:28644600-28655400	Weak transcription	Brain Substantia Nigra	brain
19	chr22:28645000-28655600	Weak transcription	Brain Cingulate Gyrus	brain
20	chr22:28645400-28649600	Weak transcription	Fetal Intestine Small	intestine
21	chr22:28645800-28649400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr22:28645800-28650400	Weak transcription	NHDF-Ad	bronchial
23	chr22:28645800-28652400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr22:28646000-28664000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr22:28646200-28649400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr22:28646200-28649400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr22:28646400-28652400	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr22:28646400-28652600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr22:28646600-28650200	Weak transcription	NH-A	brain
30	chr22:28646600-28650800	Weak transcription	Osteobl	bone
31	chr22:28647200-28651200	Weak transcription	Small Intestine	intestine
32	chr22:28647600-28649400	Weak transcription	Stomach Mucosa	stomach
33	chr22:28647800-28649000	Enhancers	Brain Germinal Matrix	brain
34	chr22:28648200-28648800	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr22:28648400-28648800	Enhancers	Fetal Brain Male	brain
36	chr22:28648400-28649000	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr22:28648400-28649800	Enhancers	Liver	Liver
38	chr22:28648600-28648800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links