Variant report

Variant	rs73131693
Chromosome Location	chr1:224711329-224711330
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:224688210..224692730-chr1:224708810..224713777,4	K562	blood:
2	chr1:224710212..224713081-chr1:224713439..224718484,6	K562	blood:
3	chr1:224705243..224707565-chr1:224710665..224712666,2	K562	blood:
4	chr1:224710212..224711959-chr1:224715661..224718484,2	K562	blood:

Variant related genes	Relation type
ENSG00000143786	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs58444825	1.00[EUR][1000 genomes]
rs73121832	1.00[EUR][1000 genomes]
rs73131696	1.00[EUR][1000 genomes]
rs73131698	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73131699	1.00[AFR][1000 genomes]
rs73133316	1.00[EUR][1000 genomes]
rs74146373	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv8868	chr1:224383023-224752531	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1014717	chr1:224551939-224885543	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv535311	chr1:224551939-224885543	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224694200-224717600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:224694200-224727600	Weak transcription	Brain Anterior Caudate	brain
3	chr1:224696400-224716600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:224701800-224716600	Weak transcription	Ovary	ovary
5	chr1:224702000-224716600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr1:224702200-224716600	Weak transcription	Dnd41	blood
7	chr1:224705200-224713600	Weak transcription	Fetal Brain Male	brain
8	chr1:224706400-224711400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:224706600-224711600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:224708400-224712000	Weak transcription	HSMM	muscle
11	chr1:224709000-224714200	Enhancers	NHDF-Ad	bronchial
12	chr1:224709200-224711800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr1:224709200-224713400	Enhancers	HMEC	breast
14	chr1:224709400-224712800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:224710200-224712600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:224710400-224713200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr1:224710400-224713800	Enhancers	NH-A	brain
18	chr1:224710600-224712000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:224710600-224712000	Weak transcription	NHEK	skin
20	chr1:224710600-224716600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr1:224710800-224713000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr1:224711200-224714000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr1:224711200-224720400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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