Variant report

Variant	rs73510218
Chromosome Location	chr9:108018258-108018259
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:107753703..107756289-chr9:108016783..108019094,2	MCF-7	breast:
2	chr9:108017304..108019990-chr9:108021859..108023819,2	MCF-7	breast:
3	chr9:108005955..108009044-chr9:108014921..108018676,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000070214	Chromatin interaction
ENSG00000230013	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs12341869	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28688962	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57877883	1.00[AMR][1000 genomes]
rs59290851	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6479300	1.00[AFR][1000 genomes]
rs6479301	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6479302	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6479303	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6479304	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7024012	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7026389	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7033929	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7039638	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7046185	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7048497	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72744219	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs72744225	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73510211	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73510246	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73510280	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73510281	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73510289	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73510295	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73666622	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73666624	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73666625	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7847744	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7847952	0.94[AFR][1000 genomes]
rs7853038	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7853709	0.83[AMR][1000 genomes]
rs7854064	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7854282	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7857088	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7860356	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7869261	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7873924	0.83[AMR][1000 genomes]
rs7874307	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9777083	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046935	chr9:107414720-108028061	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1045108	chr9:107509553-108188550	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv831678	chr9:107923522-108112813	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription 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	11 gene(s)	inside rSNPs	diseases
4	nsv893685	chr9:107940737-108083485	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv893686	chr9:107968330-108083485	Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv893687	chr9:107973277-108083485	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv893688	chr9:107974761-108083485	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv893689	chr9:107978563-108130606	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv893690	chr9:107992706-108083485	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	nsv893691	chr9:107994629-108020284	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:108008200-108033600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr9:108008400-108019400	Weak transcription	Left Ventricle	heart
3	chr9:108008400-108020000	Weak transcription	Primary T cells from cord blood	blood
4	chr9:108008600-108020000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr9:108008800-108022400	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr9:108009000-108037200	Weak transcription	Aorta	Aorta
7	chr9:108009200-108019400	Weak transcription	Ovary	ovary
8	chr9:108009400-108022200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr9:108010200-108019800	Weak transcription	Right Atrium	heart
10	chr9:108010400-108026200	Weak transcription	Hela-S3	cervix
11	chr9:108010800-108019600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr9:108011400-108022400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr9:108011600-108019400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr9:108011600-108020000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr9:108011600-108021800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr9:108011600-108031800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr9:108012200-108020200	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr9:108013000-108024200	Weak transcription	Esophagus	oesophagus
19	chr9:108014200-108019000	Enhancers	Brain Hippocampus Middle	brain
20	chr9:108014600-108022200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr9:108015000-108019600	Weak transcription	Fetal Lung	lung
22	chr9:108015600-108018800	Enhancers	Brain Angular Gyrus	brain
23	chr9:108015800-108018600	Enhancers	Colonic Mucosa	Colon
24	chr9:108015800-108025600	Enhancers	Brain Cingulate Gyrus	brain
25	chr9:108016400-108018600	Enhancers	Duodenum Mucosa	Duodenum
26	chr9:108016600-108018400	Enhancers	Fetal Intestine Large	intestine
27	chr9:108016600-108018600	Enhancers	Dnd41	blood
28	chr9:108016600-108019800	Weak transcription	GM12878-XiMat	blood
29	chr9:108016800-108019800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr9:108016800-108020600	Weak transcription	Right Ventricle	heart
31	chr9:108016800-108021400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr9:108016800-108022400	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr9:108017000-108018800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr9:108017000-108019400	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr9:108017000-108019600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr9:108017000-108021400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr9:108017000-108021400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr9:108017000-108021600	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr9:108017000-108022200	Weak transcription	A549	lung
40	chr9:108017200-108019600	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr9:108017200-108019600	Weak transcription	HepG2	liver
42	chr9:108017200-108019800	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr9:108017200-108020000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr9:108017200-108020000	Weak transcription	Pancreas	Pancrea
45	chr9:108017200-108020200	Weak transcription	Gastric	stomach
46	chr9:108017200-108020800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr9:108017200-108021400	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr9:108017200-108021600	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr9:108017200-108040800	Weak transcription	HMEC	breast
50	chr9:108017600-108018800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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