Variant report

Variant	rs73883344
Chromosome Location	chr22:30353094-30353095
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:30348834..30351665-chr22:30352625..30356782,4	K562	blood:
2	chr22:30346859..30350735-chr22:30351458..30355335,4	K562	blood:

Extended variants
information (count: 91 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs11549795	0.80[EUR][1000 genomes]
rs11552852	0.84[EUR][1000 genomes]
rs1544429	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1544430	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1544431	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1544433	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16988120	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16988143	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16988148	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16988149	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16988244	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16988291	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16988303	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16988304	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16988333	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17648208	0.87[EUR][1000 genomes]
rs1807726	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2105871	0.93[EUR][1000 genomes]
rs2107674	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2349228	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs249403	0.80[EUR][1000 genomes]
rs28265	0.80[EUR][1000 genomes]
rs36571	0.80[EUR][1000 genomes]
rs36575	0.80[EUR][1000 genomes]
rs36577	0.80[EUR][1000 genomes]
rs36579	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36588	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36589	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36592	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36593	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36597	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs36599	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36602	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36603	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36608	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs39713	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs41278853	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs41281623	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs41281633	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs45629133	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4820823	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55645000	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56332559	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs56392746	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56406718	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs57348516	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5752974	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs5752977	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs5752979	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs5763560	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs5763568	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs5763582	0.89[EUR][1000 genomes]
rs5763595	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58162368	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs5997539	0.95[EUR][1000 genomes]
rs6006276	0.95[EUR][1000 genomes]
rs6006383	0.82[EUR][1000 genomes]
rs60759987	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6519805	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7284365	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7284951	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7286205	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7286441	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7287233	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7289803	0.80[EUR][1000 genomes]
rs73392888	0.80[EUR][1000 genomes]
rs737901	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs737938	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73883320	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs73883349	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73883354	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73883355	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73883359	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73883360	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73883363	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73883367	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73883370	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73883374	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73883375	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73883377	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73883378	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8141471	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv1064489	chr22:30316627-30361881	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv869764	chr22:30323649-30367813	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv523696	chr22:30326102-30381789	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv1058511	chr22:30330447-30361881	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	esv2763694	chr22:30330459-30361881	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv588883	chr22:30333405-30365842	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv3591	chr22:30344208-30388897	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30313600-30354200	Weak transcription	Small Intestine	intestine
2	chr22:30334200-30374800	Weak transcription	Thymus	Thymus
3	chr22:30340200-30355400	Weak transcription	Fetal Intestine Small	intestine
4	chr22:30340200-30374800	Weak transcription	Fetal Thymus	thymus
5	chr22:30340600-30360400	Weak transcription	Primary hematopoietic stem cells	blood
6	chr22:30340600-30370000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr22:30340600-30375000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr22:30340800-30376000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr22:30341200-30353600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr22:30341400-30354400	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr22:30341400-30355200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr22:30342600-30375200	Weak transcription	Spleen	Spleen
13	chr22:30344200-30375000	Weak transcription	HMEC	breast
14	chr22:30344400-30376000	Weak transcription	HSMMtube	muscle
15	chr22:30344600-30357600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr22:30344600-30357800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr22:30344600-30358400	Weak transcription	Fetal Stomach	stomach
18	chr22:30344600-30367200	Weak transcription	Brain Anterior Caudate	brain
19	chr22:30344600-30370000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr22:30344600-30374600	Weak transcription	Adipose Nuclei	Adipose
21	chr22:30344600-30375600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr22:30345000-30358600	Weak transcription	Fetal Lung	lung
23	chr22:30345000-30367200	Weak transcription	Brain Cingulate Gyrus	brain
24	chr22:30345000-30367600	Weak transcription	Brain Germinal Matrix	brain
25	chr22:30345000-30375400	Weak transcription	Fetal Brain Female	brain
26	chr22:30345400-30356400	Weak transcription	Fetal Brain Male	brain
27	chr22:30345400-30370000	Weak transcription	HSMM	muscle
28	chr22:30345400-30371600	Weak transcription	Lung	lung
29	chr22:30345400-30379000	Weak transcription	Esophagus	oesophagus
30	chr22:30345800-30363200	Weak transcription	Liver	Liver
31	chr22:30346200-30355200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr22:30347000-30373800	Weak transcription	Left Ventricle	heart
33	chr22:30347200-30357800	Weak transcription	Fetal Muscle Trunk	muscle
34	chr22:30347200-30369600	Weak transcription	Pancreas	Pancrea
35	chr22:30347600-30359600	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr22:30347600-30360000	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr22:30347800-30353800	Weak transcription	Primary B cells from cord blood	blood
38	chr22:30348000-30374800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr22:30348200-30354200	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr22:30348200-30357600	Weak transcription	Primary T cells from cord blood	blood
41	chr22:30348200-30363200	Weak transcription	Duodenum Mucosa	Duodenum
42	chr22:30348400-30366200	Weak transcription	Colon Smooth Muscle	Colon
43	chr22:30348400-30373800	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr22:30348400-30387200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr22:30348600-30358400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr22:30348600-30366600	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr22:30348800-30354400	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr22:30348800-30367200	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr22:30349400-30357400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr22:30349400-30366200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links