Variant report

Variant	rs56820994
Chromosome Location	chr20:23112807-23112808
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	chr20:23112532..23115241-chr20:23342774..23344532,2	K562	blood:

Variant related genes	Relation type
ENSG00000125812	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs6132569	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6137842	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6137844	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6137845	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73901924	0.88[AMR][1000 genomes];0.94[EUR][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:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23085800-23114600	Enhancers	Placenta	Placenta
2	chr20:23102000-23114000	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr20:23106800-23114400	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr20:23106800-23116400	Weak transcription	Esophagus	oesophagus
5	chr20:23107600-23113200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr20:23109000-23120200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr20:23110400-23113400	Weak transcription	Ovary	ovary
8	chr20:23110400-23113600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr20:23110400-23121600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr20:23110600-23113800	Weak transcription	Fetal Heart	heart
11	chr20:23111000-23120400	Weak transcription	Pancreas	Pancrea
12	chr20:23111200-23113000	Weak transcription	Psoas Muscle	Psoas
13	chr20:23111600-23113000	Weak transcription	Fetal Stomach	stomach
14	chr20:23111600-23113200	Weak transcription	Fetal Lung	lung
15	chr20:23111800-23114000	Enhancers	Lung	lung
16	chr20:23111800-23114600	Flanking Active TSS	K562	blood
17	chr20:23112000-23113200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr20:23112000-23114800	Enhancers	Fetal Muscle Trunk	muscle
19	chr20:23112400-23114200	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr20:23112400-23114600	Enhancers	Adipose Nuclei	Adipose
21	chr20:23112400-23114600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr20:23112400-23114600	Enhancers	Right Atrium	heart
23	chr20:23112400-23114800	Enhancers	Dnd41	blood
24	chr20:23112400-23114800	Enhancers	HUVEC	blood vessel
25	chr20:23112600-23113000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr20:23112600-23113800	Enhancers	Fetal Intestine Large	intestine
27	chr20:23112600-23114200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr20:23112600-23114200	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr20:23112600-23114600	Enhancers	Right Ventricle	heart
30	chr20:23112600-23114600	Enhancers	Spleen	Spleen
31	chr20:23112600-23114800	Enhancers	Fetal Muscle Leg	muscle
32	chr20:23112600-23116200	Enhancers	Monocytes-CD14+_RO01746	blood
33	chr20:23112600-23120600	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr20:23112800-23113000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr20:23112800-23113200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
36	chr20:23112800-23113400	Enhancers	Fetal Intestine Small	intestine
37	chr20:23112800-23114600	Enhancers	Left Ventricle	heart
38	chr20:23112800-23114600	Enhancers	Skeletal Muscle Female	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links