Variant report

Variant	rs34290000
Chromosome Location	chr20:23100491-23100492
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:23099688..23102683-chr20:23112408..23115476,3	K562	blood:
2	chr20:23099426..23103463-chr20:23105068..23107847,3	K562	blood:
3	chr20:23098919..23101033-chr20:23112004..23114138,2	K562	blood:
4	chr20:23095163..23098462-chr20:23100135..23102327,3	K562	blood:

Variant related genes	Relation type
ENSG00000233746	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs17756373	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs34151880	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4446126	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6036310	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6048548	0.83[EUR][1000 genomes]
rs6048549	0.83[EUR][1000 genomes]
rs6076024	0.84[EUR][1000 genomes]
rs6076025	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6076026	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6076027	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6083006	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs699794	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs699795	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs844816	0.81[EUR][1000 genomes]
rs844817	0.81[EUR][1000 genomes]
rs844819	0.81[EUR][1000 genomes]
rs844821	0.82[EUR][1000 genomes]
rs844822	0.82[EUR][1000 genomes]
rs844823	0.83[EUR][1000 genomes]
rs844825	0.82[EUR][1000 genomes]
rs844827	0.82[EUR][1000 genomes]
rs844830	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs844831	0.83[EUR][1000 genomes]
rs844846	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs844850	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs844851	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs844852	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs844853	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs844854	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs844855	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs844856	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs844857	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs844860	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs844861	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs844862	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs844863	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs844864	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs844865	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs844866	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs844874	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs844877	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758516	chr20:23029404-23173240	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	esv2758789	chr20:23029404-23179604	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23085800-23114600	Enhancers	Placenta	Placenta
2	chr20:23091200-23100600	Enhancers	Dnd41	blood
3	chr20:23093000-23103200	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr20:23096000-23102600	Weak transcription	Primary hematopoietic stem cells	blood
5	chr20:23097200-23100800	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr20:23097200-23102000	Enhancers	Fetal Muscle Leg	muscle
7	chr20:23097600-23101400	Weak transcription	K562	blood
8	chr20:23097600-23110200	Weak transcription	Pancreas	Pancrea
9	chr20:23098000-23106000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr20:23098800-23100800	Weak transcription	Right Ventricle	heart
11	chr20:23098800-23101600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr20:23098800-23102000	Enhancers	Spleen	Spleen
13	chr20:23099200-23101600	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr20:23099200-23102000	Enhancers	Esophagus	oesophagus
15	chr20:23099400-23100800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr20:23099600-23100600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr20:23099600-23101400	Enhancers	Adipose Nuclei	Adipose
18	chr20:23099600-23101400	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr20:23099600-23101800	Enhancers	Left Ventricle	heart
20	chr20:23099600-23104600	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr20:23099800-23101000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr20:23099800-23101400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr20:23099800-23105400	Weak transcription	Gastric	stomach
24	chr20:23100000-23100600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr20:23100000-23100800	Enhancers	Brain Hippocampus Middle	brain
26	chr20:23100000-23101000	Enhancers	HUVEC	blood vessel
27	chr20:23100000-23103200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr20:23100000-23104000	Weak transcription	GM12878-XiMat	blood
29	chr20:23100200-23101000	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr20:23100200-23101200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chr20:23100200-23101200	Enhancers	NHEK	skin
32	chr20:23100200-23102000	Enhancers	Right Atrium	heart
33	chr20:23100200-23102800	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr20:23100200-23103400	Weak transcription	Primary B cells from cord blood	blood
35	chr20:23100200-23111200	Enhancers	Fetal Thymus	thymus
36	chr20:23100400-23100600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr20:23100400-23100800	Enhancers	Stomach Smooth Muscle	stomach
38	chr20:23100400-23101000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr20:23100400-23101400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
40	chr20:23100400-23102000	Enhancers	Lung	lung
41	chr20:23100400-23103200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr20:23100400-23106000	Weak transcription	Colonic Mucosa	Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links