Variant report

Variant	rs72750499
Chromosome Location	chr9:95102800-95102801
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	chr9:95100997..95103604-chr9:95103961..95105518,2	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs17592026	0.90[AMR][1000 genomes]
rs3736836	0.90[AMR][1000 genomes]
rs3758231	0.90[AMR][1000 genomes]
rs41278699	0.90[AMR][1000 genomes]
rs61742574	0.90[AMR][1000 genomes]
rs72750460	0.90[AMR][1000 genomes]
rs72750477	0.90[AMR][1000 genomes]
rs72750485	0.90[AMR][1000 genomes]
rs72754412	0.90[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs72754457	0.83[AMR][1000 genomes]
rs72754461	0.83[AMR][1000 genomes]
rs72754463	0.83[AMR][1000 genomes]
rs72754465	0.83[AMR][1000 genomes]
rs72754470	0.83[AMR][1000 genomes]
rs72754477	0.83[AMR][1000 genomes]
rs72754480	0.83[AMR][1000 genomes]
rs72754482	0.83[AMR][1000 genomes]
rs72754483	0.83[AMR][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	nsv949008	chr9:94500776-95182133	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1050845	chr9:94687959-95312406	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv1046733	chr9:94690622-95138564	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv893573	chr9:94974188-95355719	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv1045165	chr9:95057462-95138564	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:95088600-95103600	Weak transcription	Esophagus	oesophagus
2	chr9:95088600-95104000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr9:95088600-95108600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr9:95088800-95103600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr9:95088800-95103800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr9:95088800-95103800	Weak transcription	Pancreas	Pancrea
7	chr9:95088800-95104000	Weak transcription	Left Ventricle	heart
8	chr9:95088800-95111200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr9:95088800-95111600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr9:95089000-95103200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr9:95089000-95103600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr9:95089000-95104000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr9:95089000-95104000	Weak transcription	HSMMtube	muscle
14	chr9:95089000-95105600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr9:95089000-95110200	Weak transcription	HSMM	muscle
16	chr9:95089000-95112200	Weak transcription	Adipose Nuclei	Adipose
17	chr9:95089200-95103800	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr9:95089200-95110000	Weak transcription	Brain Hippocampus Middle	brain
19	chr9:95089400-95103800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr9:95089400-95107000	Weak transcription	Brain Germinal Matrix	brain
21	chr9:95089400-95112000	Weak transcription	NHLF	lung
22	chr9:95089400-95113200	Weak transcription	HUVEC	blood vessel
23	chr9:95089400-95116400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr9:95089600-95104400	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr9:95089600-95111200	Weak transcription	NHDF-Ad	bronchial
26	chr9:95089600-95121800	Weak transcription	Fetal Heart	heart
27	chr9:95089800-95103600	Weak transcription	Placenta	Placenta
28	chr9:95089800-95112000	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr9:95090400-95118200	Weak transcription	HepG2	liver
30	chr9:95091000-95120000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr9:95092200-95109800	Weak transcription	Gastric	stomach
32	chr9:95093400-95104000	Weak transcription	Colonic Mucosa	Colon
33	chr9:95094600-95102800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr9:95094600-95105000	Strong transcription	Dnd41	blood
35	chr9:95096000-95105400	Weak transcription	Osteobl	bone
36	chr9:95096400-95103400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr9:95097400-95112800	Weak transcription	Fetal Intestine Small	intestine
38	chr9:95097800-95102800	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr9:95098200-95102800	Strong transcription	Fetal Thymus	thymus
40	chr9:95098200-95103400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr9:95098800-95103400	Strong transcription	Fetal Muscle Leg	muscle
42	chr9:95099000-95102800	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr9:95099200-95104200	Weak transcription	Rectal Smooth Muscle	rectum
44	chr9:95099600-95102800	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr9:95099800-95102800	Strong transcription	Primary monocytes fromperipheralblood	blood
46	chr9:95099800-95102800	Strong transcription	Primary B cells from cord blood	blood
47	chr9:95099800-95103000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr9:95100000-95102800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr9:95100000-95103000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr9:95100000-95103200	Strong transcription	H1 Cell Line	embryonic stem cell

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