Variant report

Variant	rs73823644
Chromosome Location	chr4:69139575-69139576
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs55869645	1.00[AMR][1000 genomes]
rs58006789	1.00[AMR][1000 genomes]
rs58731278	1.00[AMR][1000 genomes]
rs61475007	1.00[AMR][1000 genomes]
rs61590834	1.00[AMR][1000 genomes]
rs73823638	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73823639	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73823643	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73823646	1.00[AMR][1000 genomes]
rs73825368	1.00[AMR][1000 genomes]
rs73825370	1.00[AMR][1000 genomes]
rs73825372	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008084	chr4:68797598-69482831	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv537131	chr4:68797598-69482831	Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	esv1812438	chr4:68943858-69154222	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv1806586	chr4:68943858-69592846	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv461546	chr4:69049643-69223057	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv594506	chr4:69049643-69223057	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv964740	chr4:69137797-69159003	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:69138000-69139800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr4:69138000-69140400	Enhancers	Fetal Intestine Small	intestine
3	chr4:69138200-69139600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr4:69138200-69139600	Enhancers	HSMM	muscle
5	chr4:69138200-69140400	Enhancers	Fetal Intestine Large	intestine
6	chr4:69138400-69139600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr4:69138400-69139600	Weak transcription	Primary B cells from peripheral blood	blood
8	chr4:69138400-69139600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr4:69138400-69140800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr4:69138600-69139800	Enhancers	Osteobl	bone
11	chr4:69138600-69140400	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr4:69138800-69140000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr4:69138800-69140000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr4:69138800-69143600	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr4:69139000-69139800	Enhancers	H9 Cell Line	embryonic stem cell
16	chr4:69139000-69140200	Weak transcription	NHEK	skin
17	chr4:69139200-69139600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr4:69139200-69139600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr4:69139200-69140000	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr4:69139200-69140200	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr4:69139200-69140200	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr4:69139200-69140400	Enhancers	H1 Cell Line	embryonic stem cell
23	chr4:69139400-69139600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr4:69139400-69139800	Enhancers	Fetal Kidney	kidney
25	chr4:69139400-69140200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr4:69139400-69140200	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr4:69139400-69140200	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr4:69139400-69140800	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr4:69139400-69143400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr4:69139400-69143600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr4:69139400-69149600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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