Variant report

Variant	rs17483998
Chromosome Location	chr22:28426321-28426322
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:28422055..28424855-chr22:28425948..28427565,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10483141	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs10483148	0.80[AMR][1000 genomes]
rs130411	0.92[ASN][1000 genomes]
rs135637	0.80[AMR][1000 genomes]
rs135638	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs135641	0.80[AMR][1000 genomes]
rs135643	0.90[AMR][1000 genomes]
rs135644	0.80[AMR][1000 genomes]
rs135645	0.80[AMR][1000 genomes]
rs135647	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs135649	0.80[AMR][1000 genomes]
rs135655	0.80[AMR][1000 genomes]
rs135659	0.90[AMR][1000 genomes]
rs16985690	1.00[AFR][1000 genomes]
rs16985862	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16985870	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16985909	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16985925	0.80[AMR][1000 genomes]
rs16985933	0.80[AMR][1000 genomes]
rs16985951	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs16986244	0.80[AMR][1000 genomes]
rs16986248	0.80[AMR][1000 genomes]
rs16986251	0.80[AMR][1000 genomes]
rs16986254	0.80[AMR][1000 genomes]
rs16986257	0.80[AMR][1000 genomes]
rs16986266	0.80[AMR][1000 genomes]
rs17391737	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17480137	1.00[AFR][1000 genomes]
rs17480565	1.00[AFR][1000 genomes]
rs17481471	1.00[AMR][1000 genomes]
rs17482652	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17483227	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2038286	0.80[AMR][1000 genomes]
rs2345011	0.91[AMR][1000 genomes]
rs2881204	0.80[AMR][1000 genomes]
rs55868187	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs5752697	0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7286237	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7290640	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8135697	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:28409000-28428000	Genic enhancers	Fetal Muscle Leg	muscle
2	chr22:28409400-28430400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr22:28416600-28431000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr22:28418600-28429800	Strong transcription	Dnd41	blood
5	chr22:28419800-28427400	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr22:28420200-28426400	Enhancers	Psoas Muscle	Psoas
7	chr22:28421600-28427200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr22:28421800-28427000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr22:28422000-28426400	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr22:28422200-28426800	Enhancers	Primary hematopoietic stem cells	blood
11	chr22:28422400-28426800	Strong transcription	Primary T cells from cord blood	blood
12	chr22:28422800-28426400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr22:28423000-28426400	Enhancers	Stomach Mucosa	stomach
14	chr22:28423000-28426800	Enhancers	Left Ventricle	heart
15	chr22:28423000-28427000	Genic enhancers	Fetal Stomach	stomach
16	chr22:28423000-28427400	Enhancers	Brain Cingulate Gyrus	brain
17	chr22:28423000-28427400	Genic enhancers	Fetal Brain Female	brain
18	chr22:28423000-28427600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr22:28423000-28427600	Enhancers	Esophagus	oesophagus
20	chr22:28423200-28426400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr22:28423200-28426800	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr22:28423200-28426800	Enhancers	Right Atrium	heart
23	chr22:28423200-28427000	Enhancers	Brain Substantia Nigra	brain
24	chr22:28423200-28427200	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr22:28423200-28427400	Enhancers	HUVEC	blood vessel
26	chr22:28423200-28427800	Enhancers	Colon Smooth Muscle	Colon
27	chr22:28423400-28427600	Enhancers	Pancreas	Pancrea
28	chr22:28423400-28431800	Enhancers	Fetal Thymus	thymus
29	chr22:28424400-28426400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr22:28424400-28426400	Genic enhancers	Gastric	stomach
31	chr22:28424600-28426400	Genic enhancers	Adipose Nuclei	Adipose
32	chr22:28424600-28427400	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr22:28424800-28426600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr22:28425000-28426400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr22:28425000-28427200	Enhancers	Brain Hippocampus Middle	brain
36	chr22:28425200-28426400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr22:28425200-28426600	Enhancers	Fetal Kidney	kidney
38	chr22:28425200-28426800	Strong transcription	HepG2	liver
39	chr22:28425400-28426400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr22:28425400-28427800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr22:28425400-28428400	Weak transcription	K562	blood
42	chr22:28425400-28430400	Weak transcription	HSMMtube	muscle
43	chr22:28425400-28430600	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr22:28425600-28426400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr22:28425600-28426800	Enhancers	Pancreatic Islets	Pancreatic Islet
46	chr22:28425600-28430200	Weak transcription	HSMM	muscle
47	chr22:28425600-28430600	Weak transcription	NH-A	brain
48	chr22:28425600-28430600	Weak transcription	Osteobl	bone
49	chr22:28425600-28430800	Weak transcription	Thymus	Thymus
50	chr22:28425800-28426400	Strong transcription	Rectal Mucosa Donor 29	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links