Variant report

Variant	rs946369
Chromosome Location	chr20:23103870-23103871
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:23103623..23110911-chr20:23111294..23114699,12	K562	blood:
2	chr20:23103723..23106528-chr20:23107935..23111054,5	K562	blood:
3	chr20:23102012..23106528-chr20:23108448..23111067,5	K562	blood:
4	chr20:23102523..23105175-chr20:23127807..23130561,3	K562	blood:

Variant related genes	Relation type
ENSG00000233746	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs13045861	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6083009	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6083010	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6083012	0.82[AMR][1000 genomes]
rs6132568	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6137837	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6137840	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs844828	0.92[EUR][1000 genomes]
rs844829	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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
3	esv3402233	chr20:23101352-23105550	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv3406606	chr20:23102177-23104925	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv3493809	chr20:23102602-23104625	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv2534208	chr20:23102860-23104445	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv3435921	chr20:23103102-23104150	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	esv3844	chr20:23103257-23103953	Weak transcription Enhancers Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv3493811	chr20:23103424-23104625	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
10	esv3493810	chr20:23103424-23104887	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23085800-23114600	Enhancers	Placenta	Placenta
2	chr20:23097600-23110200	Weak transcription	Pancreas	Pancrea
3	chr20:23098000-23106000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr20:23099600-23104600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr20:23099800-23105400	Weak transcription	Gastric	stomach
6	chr20:23100000-23104000	Weak transcription	GM12878-XiMat	blood
7	chr20:23100200-23111200	Enhancers	Fetal Thymus	thymus
8	chr20:23100400-23106000	Weak transcription	Colonic Mucosa	Colon
9	chr20:23101000-23104400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr20:23101000-23104600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr20:23101200-23105400	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr20:23101200-23106600	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr20:23101200-23109400	Weak transcription	Liver	Liver
14	chr20:23101400-23105800	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr20:23101400-23106000	Weak transcription	Adipose Nuclei	Adipose
16	chr20:23101600-23104600	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr20:23101800-23106000	Weak transcription	Left Ventricle	heart
18	chr20:23101800-23109200	Weak transcription	Right Ventricle	heart
19	chr20:23102000-23104600	Weak transcription	Esophagus	oesophagus
20	chr20:23102000-23105800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr20:23102000-23105800	Weak transcription	Lung	lung
22	chr20:23102000-23106200	Weak transcription	Right Atrium	heart
23	chr20:23102000-23106600	Weak transcription	Spleen	Spleen
24	chr20:23102000-23114000	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr20:23102800-23105000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr20:23103200-23104600	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr20:23103200-23104600	Enhancers	Dnd41	blood
28	chr20:23103200-23105400	Weak transcription	K562	blood
29	chr20:23103200-23105800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr20:23103200-23105800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr20:23103200-23106000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr20:23103200-23106400	Weak transcription	Primary hematopoietic stem cells	blood
33	chr20:23103200-23109800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr20:23103400-23104000	Enhancers	Primary B cells from cord blood	blood
35	chr20:23103800-23104000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood

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