Variant report

Variant	rs72751529
Chromosome Location	chr9:100329621-100329622
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:100329621..100332516-chr9:100354478..100356652,2	K562	blood:
2	chr9:100268841..100271673-chr9:100329347..100331744,3	K562	blood:
3	chr9:100262894..100264772-chr9:100327949..100330093,2	K562	blood:
4	chr9:100324933..100327545-chr9:100329067..100331867,3	MCF-7	breast:
5	chr9:100318639..100320970-chr9:100327548..100329985,2	MCF-7	breast:
6	chr9:100289928..100292573-chr9:100328565..100332517,3	K562	blood:
7	chr9:100324071..100326251-chr9:100329455..100331958,2	K562	blood:

Variant related genes	Relation type
ENSG00000136842	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10114427	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10982895	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12345701	0.93[EUR][1000 genomes]
rs12346614	0.82[EUR][1000 genomes]
rs12349752	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12349848	0.93[EUR][1000 genomes]
rs12353111	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs16922319	0.86[EUR][1000 genomes]
rs28368170	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35400156	1.00[ASN][1000 genomes]
rs66475733	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72751532	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72751535	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72751538	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9777684	0.93[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	nsv1039240	chr9:100292680-100415269	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv540179	chr9:100292680-100415269	Genic enhancers Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv893610	chr9:100324086-100496160	Active TSS Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100321600-100331400	Weak transcription	Liver	Liver
2	chr9:100324200-100333200	Weak transcription	Spleen	Spleen
3	chr9:100326800-100331800	Strong transcription	Pancreatic Islets	Pancreatic Islet
4	chr9:100326800-100337000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr9:100327000-100333200	Strong transcription	Pancreas	Pancrea
6	chr9:100327000-100349200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr9:100327200-100330200	Weak transcription	Gastric	stomach
8	chr9:100327200-100330400	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr9:100327200-100333200	Strong transcription	Aorta	Aorta
10	chr9:100327200-100340000	Weak transcription	Fetal Stomach	stomach
11	chr9:100327400-100330600	Weak transcription	Brain Substantia Nigra	brain
12	chr9:100327400-100331800	Strong transcription	GM12878-XiMat	blood
13	chr9:100327400-100332400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr9:100327400-100332600	Strong transcription	Brain Anterior Caudate	brain
15	chr9:100327400-100332800	Weak transcription	Adipose Nuclei	Adipose
16	chr9:100327400-100332800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr9:100327400-100333400	Weak transcription	Fetal Brain Male	brain
18	chr9:100327400-100335400	Weak transcription	Hela-S3	cervix
19	chr9:100327600-100330600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr9:100327600-100330800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr9:100327600-100332000	Weak transcription	Fetal Heart	heart
22	chr9:100327600-100332400	Strong transcription	Stomach Smooth Muscle	stomach
23	chr9:100327600-100332600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr9:100327600-100332600	Strong transcription	Ovary	ovary
25	chr9:100327600-100333000	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr9:100327600-100333200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr9:100327800-100330000	Weak transcription	Brain Germinal Matrix	brain
28	chr9:100328000-100330200	Weak transcription	Brain Hippocampus Middle	brain
29	chr9:100328000-100332200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr9:100328200-100331400	Strong transcription	Right Ventricle	heart
31	chr9:100328200-100332400	Strong transcription	Brain Inferior Temporal Lobe	brain
32	chr9:100328400-100330800	Genic enhancers	K562	blood
33	chr9:100328400-100331000	Weak transcription	Brain Angular Gyrus	brain
34	chr9:100328800-100330400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr9:100329000-100330600	Weak transcription	Colon Smooth Muscle	Colon
36	chr9:100329000-100333400	Genic enhancers	Skeletal Muscle Female	skeletal muscle
37	chr9:100329200-100330800	Genic enhancers	Skeletal Muscle Male	skeletal muscle
38	chr9:100329200-100331600	Strong transcription	Fetal Brain Female	brain
39	chr9:100329200-100332600	Strong transcription	Left Ventricle	heart
40	chr9:100329400-100330200	Enhancers	Psoas Muscle	Psoas
41	chr9:100329400-100330400	Enhancers	Right Atrium	heart
42	chr9:100329400-100330800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr9:100329400-100330800	Enhancers	Lung	lung
44	chr9:100329400-100331000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr9:100329400-100331200	Enhancers	Fetal Muscle Leg	muscle
46	chr9:100329600-100330200	Enhancers	HSMMtube	muscle
47	chr9:100329600-100330800	Enhancers	Fetal Muscle Trunk	muscle

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