Variant report

Variant	rs72700550
Chromosome Location	chr9:14399770-14399771
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:14314050..14315660-chr9:14398381..14400097,2	K562	blood:
2	chr9:14314653..14317255-chr9:14398408..14400956,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000225472	Chromatin interaction
ENSG00000147862	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1010335	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11788403	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56237396	0.84[EUR][1000 genomes]
rs7029591	0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7030092	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7043297	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72700545	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72700551	0.84[EUR][1000 genomes]
rs72700555	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72700560	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv892600	chr9:14370172-14469146	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv892601	chr9:14380528-14405555	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14386400-14418400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr9:14392000-14400400	Weak transcription	Aorta	Aorta
3	chr9:14394000-14400200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr9:14396200-14400400	Weak transcription	HSMMtube	muscle
5	chr9:14396600-14400000	Weak transcription	Fetal Muscle Leg	muscle
6	chr9:14396600-14400200	Weak transcription	Fetal Heart	heart
7	chr9:14396600-14400400	Weak transcription	Ovary	ovary
8	chr9:14396600-14401800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr9:14396800-14400000	Enhancers	Brain Cingulate Gyrus	brain
10	chr9:14396800-14400200	Weak transcription	Fetal Brain Male	brain
11	chr9:14397000-14399800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr9:14397000-14399800	Weak transcription	K562	blood
13	chr9:14397000-14400600	Weak transcription	Psoas Muscle	Psoas
14	chr9:14397400-14400200	Weak transcription	Fetal Brain Female	brain
15	chr9:14397400-14402600	Weak transcription	Brain Germinal Matrix	brain
16	chr9:14397600-14404200	Weak transcription	Pancreas	Pancrea
17	chr9:14398600-14400000	Enhancers	Fetal Lung	lung
18	chr9:14398800-14400000	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr9:14399000-14400000	Weak transcription	Brain Angular Gyrus	brain
20	chr9:14399000-14400000	Weak transcription	Brain Anterior Caudate	brain
21	chr9:14399000-14400000	Weak transcription	Brain Hippocampus Middle	brain
22	chr9:14399000-14400200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr9:14399000-14400200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr9:14399000-14400400	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr9:14399000-14400800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr9:14399400-14400000	Enhancers	Brain Substantia Nigra	brain
27	chr9:14399600-14400000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr9:14399600-14400000	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr9:14399600-14400600	Enhancers	NHLF	lung
30	chr9:14399600-14401000	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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