Variant report

Variant	rs946368
Chromosome Location	chr20:23096921-23096922
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:23094897..23098917-chr20:23130908..23134771,6	K562	blood:
2	chr20:23072770..23073335-chr20:23096909..23097889,2	MCF-7	breast:
3	chr20:23095163..23098462-chr20:23100135..23102327,3	K562	blood:
4	chr20:23095049..23097345-chr20:23329449..23331996,2	K562	blood:
5	chr20:23095142..23097741-chr20:23111514..23114156,2	K562	blood:
6	chr20:23093195..23094992-chr20:23095074..23097228,2	MCF-7	breast:
7	chr20:23095719..23097726-chr20:23106686..23108284,2	K562	blood:
8	chr20:23092456..23098917-chr20:23127069..23136117,14	K562	blood:
9	chr20:23094758..23097530-chr20:23123211..23126141,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000233746	Chromatin interaction
ENSG00000132661	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11697283	0.89[CEU][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13036769	0.94[EUR][1000 genomes]
rs1320561	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1835700	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2404885	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6083004	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6113954	0.82[AFR][1000 genomes]
rs6132564	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6137832	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs8122415	0.89[CEU][hapmap];0.88[AMR][1000 genomes];0.89[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:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23085800-23114600	Enhancers	Placenta	Placenta
2	chr20:23088000-23100000	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr20:23091200-23100600	Enhancers	Dnd41	blood
4	chr20:23092400-23099600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr20:23092800-23097600	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr20:23093000-23103200	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr20:23093200-23099000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr20:23093800-23097000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr20:23094600-23097800	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr20:23095200-23100200	Weak transcription	Right Atrium	heart
11	chr20:23095200-23100400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr20:23095400-23097000	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr20:23095400-23097200	Weak transcription	Spleen	Spleen
14	chr20:23095600-23097200	Weak transcription	Adipose Nuclei	Adipose
15	chr20:23095600-23097600	Enhancers	K562	blood
16	chr20:23095600-23099600	Weak transcription	Left Ventricle	heart
17	chr20:23095600-23100000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr20:23095800-23097200	Weak transcription	Fetal Muscle Leg	muscle
19	chr20:23095800-23097800	Weak transcription	Fetal Muscle Trunk	muscle
20	chr20:23096000-23097200	Weak transcription	Lung	lung
21	chr20:23096000-23102600	Weak transcription	Primary hematopoietic stem cells	blood
22	chr20:23096200-23099800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr20:23096400-23097200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr20:23096400-23097800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr20:23096600-23097200	Flanking Active TSS	GM12878-XiMat	blood
26	chr20:23096600-23097400	Enhancers	Fetal Thymus	thymus
27	chr20:23096600-23097600	Enhancers	NHLF	lung
28	chr20:23096600-23097800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr20:23096600-23098000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr20:23096600-23098000	Enhancers	NHEK	skin
31	chr20:23096600-23098800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr20:23096600-23099000	Enhancers	Placenta Amnion	Placenta Amnion
33	chr20:23096800-23097200	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr20:23096800-23097200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
35	chr20:23096800-23097200	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr20:23096800-23097400	Enhancers	Brain Hippocampus Middle	brain
37	chr20:23096800-23097400	Enhancers	A549	lung
38	chr20:23096800-23097600	Enhancers	Muscle Satellite Cultured Cells	--
39	chr20:23096800-23097600	Enhancers	Pancreas	Pancrea
40	chr20:23096800-23097800	Enhancers	Primary B cells from cord blood	blood
41	chr20:23096800-23097800	Enhancers	HMEC	breast
42	chr20:23096800-23098000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr20:23096800-23098000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr20:23096800-23098800	Enhancers	Esophagus	oesophagus

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