Variant report

Variant	rs72700533
Chromosome Location	chr9:14361477-14361478
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	chr9:14321402..14324664-chr9:14357484..14361641,4	K562	blood:

Variant related genes	Relation type
ENSG00000147862	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs72700531	1.00[AMR][1000 genomes]
rs72700541	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029491	chr9:14033607-14942373	Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv915804	chr9:14182608-14903050	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv916811	chr9:14210978-14542068	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv831516	chr9:14280695-14437445	Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv526315	chr9:14347811-14362390	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14353600-14362600	Weak transcription	Psoas Muscle	Psoas
2	chr9:14353600-14371800	Weak transcription	Left Ventricle	heart
3	chr9:14354000-14365200	Weak transcription	HUVEC	blood vessel
4	chr9:14354200-14365600	Weak transcription	Stomach Smooth Muscle	stomach
5	chr9:14355400-14365800	Weak transcription	Brain Substantia Nigra	brain
6	chr9:14356800-14362400	Weak transcription	Right Atrium	heart
7	chr9:14356800-14365400	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr9:14357000-14362400	Weak transcription	Aorta	Aorta
9	chr9:14357200-14372600	Weak transcription	Fetal Heart	heart
10	chr9:14357800-14362400	Weak transcription	Adipose Nuclei	Adipose
11	chr9:14359800-14365200	Weak transcription	Fetal Muscle Leg	muscle
12	chr9:14359800-14366400	Weak transcription	Fetal Muscle Trunk	muscle
13	chr9:14360200-14363000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr9:14360400-14365400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr9:14360800-14362200	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr9:14360800-14362600	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr9:14361000-14361800	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr9:14361000-14362000	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr9:14361000-14362200	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr9:14361000-14362200	Enhancers	Muscle Satellite Cultured Cells	--
21	chr9:14361000-14363000	Enhancers	Osteobl	bone
22	chr9:14361200-14361600	Enhancers	Brain Germinal Matrix	brain
23	chr9:14361200-14361800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr9:14361200-14362000	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr9:14361200-14362200	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr9:14361200-14362600	Enhancers	Fetal Lung	lung
27	chr9:14361200-14362800	Enhancers	NHLF	lung
28	chr9:14361200-14363000	Enhancers	NHDF-Ad	bronchial
29	chr9:14361200-14364200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr9:14361400-14361600	Enhancers	Fetal Brain Male	brain
31	chr9:14361400-14361600	Enhancers	Fetal Stomach	stomach
32	chr9:14361400-14361800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
33	chr9:14361400-14361800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr9:14361400-14362000	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr9:14361400-14362200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr9:14361400-14362200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr9:14361400-14362800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr9:14361400-14363400	Enhancers	Rectal Smooth Muscle	rectum
39	chr9:14361400-14367200	Enhancers	Colon Smooth Muscle	Colon

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