Variant report

Variant	rs6113783
Chromosome Location	chr20:22698517-22698518
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:22698060..22699692-chr20:22703539..22705763,2	K562	blood:
2	chr20:22697134..22699527-chr20:22702213..22704655,2	K562	blood:

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

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

rs_ID	r²[population]
rs10485633	1.00[EUR][1000 genomes]
rs2404490	1.00[AMR][1000 genomes]
rs55670535	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57824551	0.95[AFR][1000 genomes]
rs6113785	0.95[AFR][1000 genomes];1.00[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	nsv833943	chr20:22657016-22703454	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv178857	chr20:22693441-22700741	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:22696000-22701000	Enhancers	Primary hematopoietic stem cells short term culture	blood
2	chr20:22696200-22698800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr20:22696800-22700600	Enhancers	Primary hematopoietic stem cells	blood
4	chr20:22697000-22700400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr20:22697000-22700600	Enhancers	Placenta Amnion	Placenta Amnion
6	chr20:22697200-22700600	Enhancers	Stomach Mucosa	stomach
7	chr20:22697400-22698600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr20:22697400-22698600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr20:22697400-22698600	Flanking Active TSS	A549	lung
10	chr20:22697400-22698600	Enhancers	NHEK	skin
11	chr20:22697400-22698800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr20:22697400-22698800	Flanking Active TSS	HUVEC	blood vessel
13	chr20:22697400-22699800	Enhancers	Lung	lung
14	chr20:22697400-22700200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr20:22697400-22700200	Enhancers	Gastric	stomach
16	chr20:22697400-22700600	Enhancers	Fetal Muscle Leg	muscle
17	chr20:22697400-22700600	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr20:22697400-22701000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr20:22697600-22698600	Enhancers	Fetal Heart	heart
20	chr20:22697600-22699200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr20:22697600-22699800	Enhancers	Left Ventricle	heart
22	chr20:22697800-22699000	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr20:22697800-22699000	Weak transcription	Spleen	Spleen
24	chr20:22697800-22700000	Weak transcription	Placenta	Placenta
25	chr20:22697800-22700600	Enhancers	Hela-S3	cervix
26	chr20:22698000-22699600	Weak transcription	Adipose Nuclei	Adipose
27	chr20:22698200-22698600	Enhancers	K562	blood
28	chr20:22698400-22699400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr20:22698400-22699400	Weak transcription	Ovary	ovary
30	chr20:22698400-22699600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr20:22698400-22699600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr20:22698400-22699600	Weak transcription	Dnd41	blood
33	chr20:22698400-22704000	Weak transcription	HSMMtube	muscle
34	chr20:22698400-22705800	Weak transcription	Right Atrium	heart

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