Variant report

Variant	rs2938322
Chromosome Location	chr1:114546107-114546108
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:114534999..114536807-chr1:114545965..114547764,2	K562	blood:
2	chr1:114535307..114536812-chr1:114545966..114547764,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1553451	1.00[AMR][1000 genomes]
rs1553453	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2938326	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3006976	1.00[AMR][1000 genomes]
rs35349710	1.00[AMR][1000 genomes]
rs7553477	1.00[AMR][1000 genomes]
rs905598	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	esv2752424	chr1:114189958-114712958	Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	esv2754686	chr1:114531958-114602958	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114541800-114546200	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr1:114543000-114547400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr1:114544200-114546200	Enhancers	H9 Cell Line	embryonic stem cell
4	chr1:114544200-114546200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:114544200-114546800	Enhancers	Fetal Muscle Trunk	muscle
6	chr1:114544200-114546800	Enhancers	Fetal Muscle Leg	muscle
7	chr1:114544800-114546200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:114544800-114546600	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr1:114544800-114546800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr1:114544800-114547200	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr1:114544800-114547200	Enhancers	Fetal Lung	lung
12	chr1:114544800-114547200	Enhancers	Placenta	Placenta
13	chr1:114545000-114546200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
14	chr1:114545000-114546200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
15	chr1:114545000-114546200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr1:114545000-114546200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:114545000-114546200	Enhancers	NHDF-Ad	bronchial
18	chr1:114545000-114547000	Enhancers	Fetal Kidney	kidney
19	chr1:114545000-114547200	Enhancers	Fetal Stomach	stomach
20	chr1:114545200-114546200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr1:114545200-114546200	Enhancers	HSMM	muscle
22	chr1:114545200-114546200	Enhancers	NHLF	lung
23	chr1:114545200-114546400	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr1:114545200-114546400	Enhancers	Ovary	ovary
25	chr1:114545200-114546600	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr1:114545200-114546800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr1:114545400-114546200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr1:114545400-114546400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:114545600-114546200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr1:114545600-114546200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr1:114545600-114546400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr1:114545600-114546600	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr1:114545600-114546800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr1:114545800-114546400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr1:114545800-114546400	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr1:114545800-114546400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr1:114545800-114546400	Enhancers	Left Ventricle	heart
38	chr1:114545800-114546400	Enhancers	Right Atrium	heart
39	chr1:114545800-114546600	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr1:114545800-114551000	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr1:114545800-114551000	Weak transcription	HSMMtube	muscle
42	chr1:114545800-114562600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr1:114546000-114546400	Enhancers	Adipose Nuclei	Adipose
44	chr1:114546000-114546800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr1:114546000-114547200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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