Variant report

Variant	rs2404490
Chromosome Location	chr20:22698972-22698973
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	chr20:22698060..22699692-chr20:22703539..22705763,2	K562	blood:
2	chr20:22697134..22699527-chr20:22702213..22704655,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs55670535	1.00[AMR][1000 genomes]
rs56117740	0.93[AFR][1000 genomes]
rs6113783	1.00[AMR][1000 genomes]
rs6113785	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:29 , 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	chr20:22696800-22700600	Enhancers	Primary hematopoietic stem cells	blood
3	chr20:22697000-22700400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr20:22697000-22700600	Enhancers	Placenta Amnion	Placenta Amnion
5	chr20:22697200-22700600	Enhancers	Stomach Mucosa	stomach
6	chr20:22697400-22699800	Enhancers	Lung	lung
7	chr20:22697400-22700200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr20:22697400-22700200	Enhancers	Gastric	stomach
9	chr20:22697400-22700600	Enhancers	Fetal Muscle Leg	muscle
10	chr20:22697400-22700600	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr20:22697400-22701000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr20:22697600-22699200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr20:22697600-22699800	Enhancers	Left Ventricle	heart
14	chr20:22697800-22699000	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr20:22697800-22699000	Weak transcription	Spleen	Spleen
16	chr20:22697800-22700000	Weak transcription	Placenta	Placenta
17	chr20:22697800-22700600	Enhancers	Hela-S3	cervix
18	chr20:22698000-22699600	Weak transcription	Adipose Nuclei	Adipose
19	chr20:22698400-22699400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr20:22698400-22699400	Weak transcription	Ovary	ovary
21	chr20:22698400-22699600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr20:22698400-22699600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr20:22698400-22699600	Weak transcription	Dnd41	blood
24	chr20:22698400-22704000	Weak transcription	HSMMtube	muscle
25	chr20:22698400-22705800	Weak transcription	Right Atrium	heart
26	chr20:22698600-22700200	Enhancers	A549	lung
27	chr20:22698800-22699200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr20:22698800-22700600	Enhancers	HUVEC	blood vessel
29	chr20:22698800-22708000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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