Variant report

Variant	rs72715090
Chromosome Location	chr9:72006273-72006274
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:71939060..71941489-chr9:72004680..72008165,4	MCF-7	breast:
2	chr9:71938861..71941918-chr9:72004713..72009090,4	MCF-7	breast:
3	chr9:71650223..71652373-chr9:72005112..72007667,2	MCF-7	breast:
4	chr9:72005489..72008452-chr9:72026108..72027745,2	K562	blood:

Variant related genes	Relation type
ENSG00000135063	Chromatin interaction
ENSG00000165060	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12001157	0.83[AMR][1000 genomes]
rs12554528	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12555572	0.83[AMR][1000 genomes]
rs1334309	0.83[AMR][1000 genomes]
rs17081638	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2777876	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2777877	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2989950	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7862458	0.83[AMR][1000 genomes]
rs7871753	0.83[AMR][1000 genomes]
rs9314684	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817406	chr9:71675454-72179318	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats 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	nsv831610	chr9:71846941-72016835	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv893428	chr9:71926658-72027641	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv893429	chr9:71961923-72047337	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv893430	chr9:71968730-72036369	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1047593	chr9:71971536-72180583	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS 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	8 gene(s)	inside rSNPs	diseases
7	nsv1035633	chr9:71995963-72176984	Weak transcription Genic enhancers Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv893431	chr9:72003036-72048098	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71985400-72006600	Weak transcription	Brain Cingulate Gyrus	brain
2	chr9:71991800-72012200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr9:71992000-72009800	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr9:71992600-72006600	Weak transcription	Esophagus	oesophagus
5	chr9:71993000-72006600	Weak transcription	Brain Hippocampus Middle	brain
6	chr9:71994400-72006800	Weak transcription	Spleen	Spleen
7	chr9:71995000-72012600	Weak transcription	Aorta	Aorta
8	chr9:71997200-72006600	Weak transcription	HSMMtube	muscle
9	chr9:71997400-72007400	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr9:71997400-72009800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr9:71997600-72006600	Weak transcription	Fetal Lung	lung
12	chr9:72000600-72006600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr9:72001000-72006600	Weak transcription	Lung	lung
14	chr9:72001800-72006400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr9:72002200-72006400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr9:72002400-72006400	Weak transcription	Right Ventricle	heart
17	chr9:72002400-72006800	Weak transcription	Gastric	stomach
18	chr9:72002600-72006400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr9:72002800-72012400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr9:72003400-72006400	Weak transcription	Adipose Nuclei	Adipose
21	chr9:72003400-72006400	Weak transcription	Brain Anterior Caudate	brain
22	chr9:72003400-72008400	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr9:72003400-72010000	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr9:72003400-72012400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr9:72003400-72012400	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr9:72003600-72006400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr9:72003600-72006400	Weak transcription	Fetal Muscle Trunk	muscle
28	chr9:72003600-72006400	Weak transcription	Fetal Stomach	stomach
29	chr9:72003600-72026200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr9:72004800-72006400	Weak transcription	Right Atrium	heart
31	chr9:72004800-72006600	Weak transcription	Pancreas	Pancrea
32	chr9:72005000-72006400	Weak transcription	Fetal Muscle Leg	muscle
33	chr9:72005000-72006400	Weak transcription	Ovary	ovary
34	chr9:72005000-72006400	Weak transcription	Psoas Muscle	Psoas
35	chr9:72005600-72006600	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr9:72005800-72006400	Weak transcription	Left Ventricle	heart
37	chr9:72005800-72007200	Enhancers	Fetal Heart	heart
38	chr9:72006000-72006400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
39	chr9:72006000-72007200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr9:72006000-72008000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr9:72006000-72008200	Enhancers	Colon Smooth Muscle	Colon
42	chr9:72006200-72006600	Weak transcription	Brain Substantia Nigra	brain
43	chr9:72006200-72007400	Strong transcription	H9 Cell Line	embryonic stem cell
44	chr9:72006200-72007600	Flanking Active TSS	Stomach Smooth Muscle	stomach
45	chr9:72006200-72007800	Enhancers	Rectal Smooth Muscle	rectum
46	chr9:72006200-72008200	Enhancers	Duodenum Smooth Muscle	Duodenum
47	chr9:72006200-72008400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
48	chr9:72006200-72013400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast

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