Variant report

Variant	rs73324405
Chromosome Location	chr17:45398706-45398707
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CBX3	chr17:45398253-45398725	K562	blood:	n/a	n/a
2	SETDB1	chr17:45398337-45398772	U2OS	brain:	n/a	n/a
3	CBX3	chr17:45398207-45398906	K562	blood:	n/a	n/a
4	CBX3	chr17:45398315-45398717	HCT-116	colon:	n/a	n/a
5	KAP1	chr17:45398216-45398862	K562	blood:	n/a	n/a
6	KAP1	chr17:45398385-45398731	HEK293	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:45346995..45349121-chr17:45397201..45400062,2	K562	blood:

Variant related genes	Relation type
EFCAB13	TF binding region

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs56721370	1.00[AFR][1000 genomes]
rs57044127	1.00[AFR][1000 genomes]
rs57172453	1.00[AFR][1000 genomes]
rs57180192	1.00[AFR][1000 genomes]
rs57216860	1.00[AFR][1000 genomes]
rs59392615	1.00[AFR][1000 genomes]
rs60348832	1.00[AFR][1000 genomes]
rs60444690	1.00[AFR][1000 genomes]
rs61274872	0.90[AFR][1000 genomes]
rs73320495	0.90[AFR][1000 genomes]
rs73320498	0.90[AFR][1000 genomes]
rs73322311	0.90[AFR][1000 genomes]
rs73322315	0.90[AFR][1000 genomes]
rs73322322	0.90[AFR][1000 genomes]
rs73322325	1.00[AFR][1000 genomes]
rs73322328	0.91[AFR][1000 genomes]
rs73322329	1.00[AFR][1000 genomes]
rs73322332	1.00[AFR][1000 genomes]
rs73322392	1.00[AFR][1000 genomes]
rs73322393	1.00[AFR][1000 genomes]
rs73322397	1.00[AFR][1000 genomes]
rs73322398	1.00[AFR][1000 genomes]
rs73322400	1.00[AFR][1000 genomes]
rs73324407	1.00[AFR][1000 genomes]
rs73324416	0.90[AFR][1000 genomes]
rs73324417	0.90[AFR][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	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv962445	chr17:45397004-45428018	Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45382800-45400800	Weak transcription	Lung	lung
2	chr17:45388800-45400800	Weak transcription	Aorta	Aorta
3	chr17:45391200-45400800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr17:45393000-45400600	Weak transcription	Brain Angular Gyrus	brain
5	chr17:45393200-45400600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr17:45393200-45400600	Weak transcription	Colon Smooth Muscle	Colon
7	chr17:45393200-45400600	Weak transcription	Fetal Heart	heart
8	chr17:45393200-45400600	Weak transcription	Pancreas	Pancrea
9	chr17:45394200-45400600	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr17:45394200-45400600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr17:45394400-45400000	Weak transcription	HUVEC	blood vessel
12	chr17:45394800-45399800	Weak transcription	Hela-S3	cervix
13	chr17:45394800-45400200	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr17:45394800-45400400	Weak transcription	NH-A	brain
15	chr17:45394800-45400600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr17:45394800-45400600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr17:45395000-45400000	Weak transcription	NHDF-Ad	bronchial
18	chr17:45395200-45400600	Weak transcription	Fetal Intestine Small	intestine
19	chr17:45395200-45400600	Weak transcription	Osteobl	bone
20	chr17:45396200-45400600	Weak transcription	HSMMtube	muscle
21	chr17:45398000-45398800	ZNF genes & repeats	Fetal Muscle Leg	muscle
22	chr17:45398200-45399000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr17:45398400-45398800	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr17:45398400-45398800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr17:45398400-45399000	ZNF genes & repeats	A549	lung
26	chr17:45398400-45400600	Weak transcription	Fetal Stomach	stomach
27	chr17:45398600-45400400	Weak transcription	Adipose Nuclei	Adipose

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