Variant report

Variant	rs72690554
Chromosome Location	chr9:18784551-18784552
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:18770497..18772251-chr9:18783540..18785289,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs16937068	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16937069	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17232165	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs56016185	0.85[EUR][1000 genomes]
rs72690544	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72690550	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72690552	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72690556	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491807	chr9:18243672-19009770	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv525659	chr9:18288212-19009041	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1019127	chr9:18288271-18996288	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv1029449	chr9:18414752-18829127	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv540077	chr9:18414752-18829127	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats 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 miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv1030931	chr9:18414752-18903530	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
7	nsv892691	chr9:18519699-18805483	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
8	nsv892692	chr9:18519699-19045502	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
9	nsv949111	chr9:18758205-18994588	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
10	nsv525887	chr9:18778319-18791355	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18756800-18787200	Weak transcription	HSMMtube	muscle
2	chr9:18772200-18785600	Weak transcription	Colon Smooth Muscle	Colon
3	chr9:18773000-18786200	Weak transcription	Right Ventricle	heart
4	chr9:18776400-18786200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr9:18777200-18786400	Weak transcription	Fetal Intestine Small	intestine
6	chr9:18777800-18786200	Strong transcription	HSMM	muscle
7	chr9:18778000-18798200	Weak transcription	Aorta	Aorta
8	chr9:18778400-18786000	Weak transcription	Fetal Muscle Leg	muscle
9	chr9:18778400-18817000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr9:18778600-18785800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr9:18778600-18796000	Weak transcription	NHLF	lung
12	chr9:18779400-18785200	Weak transcription	Fetal Heart	heart
13	chr9:18779800-18786200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr9:18779800-18796200	Weak transcription	Fetal Muscle Trunk	muscle
15	chr9:18780200-18785000	Weak transcription	Fetal Stomach	stomach
16	chr9:18780200-18789800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr9:18780200-18795200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr9:18781400-18784600	Strong transcription	NH-A	brain
19	chr9:18781600-18786400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr9:18781800-18785400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr9:18781800-18787200	Strong transcription	NHDF-Ad	bronchial
22	chr9:18782000-18784600	Strong transcription	Osteobl	bone
23	chr9:18782400-18786600	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr9:18782600-18786400	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr9:18783600-18785000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr9:18783800-18784600	Enhancers	HUVEC	blood vessel
27	chr9:18784200-18785400	Weak transcription	Adipose Nuclei	Adipose
28	chr9:18784200-18785400	Weak transcription	Right Atrium	heart
29	chr9:18784200-18786200	Weak transcription	Left Ventricle	heart

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