Variant report

Variant	rs2480721
Chromosome Location	chr9:100337311-100337312
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	chr9:100335698..100337824-chr9:100348550..100351142,2	MCF-7	breast:
2	chr9:100331492..100333368-chr9:100335840..100338156,2	K562	blood:

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

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

rs_ID	r²[population]
rs11792768	0.81[ASN][1000 genomes]
rs12380094	0.81[ASN][1000 genomes]
rs12685683	0.81[ASN][1000 genomes]
rs2031999	0.87[ASN][1000 genomes]
rs2773355	0.89[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs2773357	0.92[ASN][1000 genomes]
rs2805767	0.80[ASN][1000 genomes]
rs2805777	0.80[ASN][1000 genomes]
rs2805791	0.82[EUR][1000 genomes]
rs2805801	0.80[EUR][1000 genomes]
rs2805803	0.92[EUR][1000 genomes]
rs2805807	0.87[ASN][1000 genomes]
rs6478325	0.81[ASN][1000 genomes]
rs7872493	0.81[ASN][1000 genomes]
rs913912	0.85[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	chr9:100327000-100349200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr9:100327200-100340000	Weak transcription	Fetal Stomach	stomach
3	chr9:100330400-100339400	Weak transcription	Brain Germinal Matrix	brain
4	chr9:100333400-100338400	Strong transcription	Ovary	ovary
5	chr9:100333400-100340800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr9:100333600-100339400	Weak transcription	Pancreas	Pancrea
7	chr9:100333600-100341400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr9:100333600-100361800	Weak transcription	Gastric	stomach
9	chr9:100334000-100337400	Weak transcription	Adipose Nuclei	Adipose
10	chr9:100334200-100340800	Weak transcription	Psoas Muscle	Psoas
11	chr9:100334200-100356000	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr9:100334400-100338600	Strong transcription	Stomach Smooth Muscle	stomach
13	chr9:100334400-100356000	Weak transcription	Brain Cingulate Gyrus	brain
14	chr9:100334400-100356400	Weak transcription	HSMMtube	muscle
15	chr9:100334600-100337400	Weak transcription	Brain Hippocampus Middle	brain
16	chr9:100334600-100337600	Weak transcription	GM12878-XiMat	blood
17	chr9:100334600-100337800	Strong transcription	Fetal Brain Female	brain
18	chr9:100334600-100339400	Weak transcription	Lung	lung
19	chr9:100334600-100353600	Weak transcription	Colon Smooth Muscle	Colon
20	chr9:100334800-100338600	Strong transcription	Skeletal Muscle Male	skeletal muscle
21	chr9:100334800-100355600	Weak transcription	Rectal Smooth Muscle	rectum
22	chr9:100335000-100341800	Weak transcription	Fetal Heart	heart
23	chr9:100335400-100338200	Strong transcription	Left Ventricle	heart
24	chr9:100335400-100338400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr9:100335400-100341000	Weak transcription	Right Ventricle	heart
26	chr9:100335600-100338600	Weak transcription	Liver	Liver
27	chr9:100335600-100356600	Weak transcription	Brain Angular Gyrus	brain
28	chr9:100336000-100337400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr9:100336000-100337800	Weak transcription	Fetal Muscle Leg	muscle
30	chr9:100336200-100337400	Weak transcription	Brain Anterior Caudate	brain
31	chr9:100336200-100337400	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr9:100336200-100340200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr9:100336200-100349200	Weak transcription	K562	blood
34	chr9:100336200-100356200	Weak transcription	Aorta	Aorta
35	chr9:100336200-100360000	Weak transcription	Brain Substantia Nigra	brain
36	chr9:100336800-100337400	Enhancers	Primary T cells fromperipheralblood	blood
37	chr9:100337000-100337400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr9:100337000-100338200	Active TSS	Primary T killer memory cells from peripheral blood	blood
39	chr9:100337000-100338200	Strong transcription	Brain Inferior Temporal Lobe	brain
40	chr9:100337000-100338600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
41	chr9:100337200-100337600	Active TSS	Primary monocytes fromperipheralblood	blood
42	chr9:100337200-100337600	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
43	chr9:100337200-100337600	Active TSS	Monocytes-CD14+_RO01746	blood
44	chr9:100337200-100337800	Active TSS	Primary T cells from cord blood	blood
45	chr9:100337200-100337800	Enhancers	Dnd41	blood
46	chr9:100337200-100338200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
47	chr9:100337200-100338400	Strong transcription	Pancreatic Islets	Pancreatic Islet

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