Variant report

Variant	rs6083012
Chromosome Location	chr20:23110911-23110912
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:23092796..23095143-chr20:23110138..23112682,3	K562	blood:
2	chr20:23103723..23106528-chr20:23107935..23111054,5	K562	blood:
3	chr20:23108883..23111876-chr20:23111933..23114373,2	MCF-7	breast:
4	chr20:23103623..23110911-chr20:23111294..23114699,12	K562	blood:
5	chr20:23068836..23070645-chr20:23109664..23111369,2	K562	blood:
6	chr20:23102012..23106528-chr20:23108448..23111067,5	K562	blood:

Variant related genes	Relation type
ENSG00000233746	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs13045861	0.87[AMR][1000 genomes]
rs6076030	0.90[CHB][hapmap];0.89[JPT][hapmap]
rs6083009	0.92[CEU][hapmap];0.87[AMR][1000 genomes]
rs6083010	0.92[CEU][hapmap];0.91[AMR][1000 genomes]
rs6083013	0.84[AMR][1000 genomes]
rs6083014	0.85[EUR][1000 genomes]
rs6083015	0.85[EUR][1000 genomes]
rs6083020	0.89[CHB][hapmap];0.89[JPT][hapmap]
rs6132568	0.86[AMR][1000 genomes]
rs6137837	0.87[AMR][1000 genomes]
rs6137840	0.92[CEU][hapmap];0.90[AMR][1000 genomes]
rs946369	0.82[AMR][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	chr20:23100200-23111200	Enhancers	Fetal Thymus	thymus
3	chr20:23102000-23114000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr20:23104600-23111600	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr20:23105200-23111000	Enhancers	Fetal Muscle Leg	muscle
6	chr20:23105800-23111000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr20:23106000-23112000	Enhancers	Adipose Nuclei	Adipose
8	chr20:23106600-23111000	Enhancers	Spleen	Spleen
9	chr20:23106600-23112600	Weak transcription	Fetal Intestine Large	intestine
10	chr20:23106800-23114400	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr20:23106800-23116400	Weak transcription	Esophagus	oesophagus
12	chr20:23107600-23111200	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr20:23107600-23113200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr20:23107800-23111000	Enhancers	Dnd41	blood
15	chr20:23108000-23111000	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr20:23108800-23111200	Enhancers	Left Ventricle	heart
17	chr20:23109000-23120200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr20:23109200-23111000	Enhancers	Right Ventricle	heart
19	chr20:23109200-23111400	Enhancers	Lung	lung
20	chr20:23109200-23111800	Enhancers	K562	blood
21	chr20:23109800-23111000	Weak transcription	Stomach Mucosa	stomach
22	chr20:23109800-23111400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr20:23110000-23112000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr20:23110000-23112800	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr20:23110200-23111000	Enhancers	Pancreas	Pancrea
26	chr20:23110200-23111400	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr20:23110200-23112200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr20:23110200-23112600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr20:23110400-23111200	Enhancers	Right Atrium	heart
30	chr20:23110400-23112400	Weak transcription	HUVEC	blood vessel
31	chr20:23110400-23112800	Weak transcription	Fetal Intestine Small	intestine
32	chr20:23110400-23113400	Weak transcription	Ovary	ovary
33	chr20:23110400-23113600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr20:23110400-23121600	Weak transcription	Primary hematopoietic stem cells	blood
35	chr20:23110600-23111200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
36	chr20:23110600-23111200	Enhancers	Psoas Muscle	Psoas
37	chr20:23110600-23113800	Weak transcription	Fetal Heart	heart
38	chr20:23110800-23111000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr20:23110800-23111000	Enhancers	Duodenum Mucosa	Duodenum
40	chr20:23110800-23111600	Enhancers	Fetal Lung	lung
41	chr20:23110800-23112200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr20:23110800-23112600	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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