Variant report

Variant	rs71494518
Chromosome Location	chr9:108080147-108080148
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:108005817..108008674-chr9:108076941..108080842,3	MCF-7	breast:
2	chr9:108005803..108008854-chr9:108078704..108081931,3	MCF-7	breast:
3	chr9:108058873..108061058-chr9:108078895..108081704,2	MCF-7	breast:
4	chr9:108061298..108064082-chr9:108078853..108080505,2	K562	blood:

Variant related genes	Relation type
ENSG00000070214	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10114041	1.00[EUR][1000 genomes]
rs10118989	1.00[EUR][1000 genomes]
rs10120572	1.00[EUR][1000 genomes]
rs13286370	1.00[EUR][1000 genomes]
rs13297127	1.00[EUR][1000 genomes]
rs13299679	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1397665	1.00[EUR][1000 genomes]
rs1397666	1.00[EUR][1000 genomes]
rs34030286	1.00[EUR][1000 genomes]
rs34668343	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35293517	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35412407	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35413260	1.00[EUR][1000 genomes]
rs35825389	1.00[EUR][1000 genomes]
rs36019711	1.00[EUR][1000 genomes]
rs36112131	1.00[EUR][1000 genomes]
rs7021567	1.00[EUR][1000 genomes]
rs7022737	0.86[EUR][1000 genomes]
rs7028183	1.00[EUR][1000 genomes]
rs71494507	1.00[AMR][1000 genomes]
rs71494508	1.00[AMR][1000 genomes]
rs71494513	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs71494515	1.00[EUR][1000 genomes]
rs71494516	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71494517	1.00[EUR][1000 genomes]
rs71494519	1.00[EUR][1000 genomes]
rs7857293	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	nsv1037750	chr9:108027692-108251733	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:108054600-108090800	Weak transcription	Psoas Muscle	Psoas
2	chr9:108055600-108151200	Weak transcription	Esophagus	oesophagus
3	chr9:108057400-108082600	Weak transcription	Dnd41	blood
4	chr9:108059400-108081200	Weak transcription	Fetal Kidney	kidney
5	chr9:108062200-108084000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr9:108062200-108091400	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr9:108062200-108091800	Weak transcription	Aorta	Aorta
8	chr9:108062200-108098800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr9:108062400-108098800	Weak transcription	Spleen	Spleen
10	chr9:108062400-108104600	Weak transcription	Right Ventricle	heart
11	chr9:108062600-108080600	Weak transcription	HepG2	liver
12	chr9:108062600-108081400	Weak transcription	Colonic Mucosa	Colon
13	chr9:108062600-108083000	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr9:108062600-108083400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr9:108062600-108090800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr9:108062600-108090800	Weak transcription	Fetal Thymus	thymus
17	chr9:108062600-108091000	Weak transcription	Adipose Nuclei	Adipose
18	chr9:108062600-108091600	Weak transcription	NHDF-Ad	bronchial
19	chr9:108062600-108098600	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr9:108062600-108098800	Weak transcription	Left Ventricle	heart
21	chr9:108062600-108098800	Weak transcription	Stomach Smooth Muscle	stomach
22	chr9:108062800-108080800	Weak transcription	A549	lung
23	chr9:108062800-108098400	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr9:108062800-108098800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr9:108063200-108087400	Weak transcription	Fetal Brain Female	brain
26	chr9:108063800-108087400	Weak transcription	Fetal Lung	lung
27	chr9:108065400-108080600	Weak transcription	Primary B cells from cord blood	blood
28	chr9:108066200-108098600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr9:108068800-108098600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr9:108069000-108104000	Weak transcription	Fetal Heart	heart
31	chr9:108070400-108080600	Weak transcription	Pancreas	Pancrea
32	chr9:108070400-108081600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr9:108070400-108087000	Weak transcription	Fetal Brain Male	brain
34	chr9:108070400-108091800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr9:108070400-108093400	Weak transcription	Gastric	stomach
36	chr9:108070400-108094600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr9:108070600-108081000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr9:108070800-108084400	Weak transcription	Small Intestine	intestine
39	chr9:108071400-108090400	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr9:108071600-108081000	Weak transcription	Primary T cells from cord blood	blood
41	chr9:108071600-108081600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr9:108071600-108099000	Weak transcription	Primary hematopoietic stem cells	blood
43	chr9:108071800-108080600	Weak transcription	Primary B cells from peripheral blood	blood
44	chr9:108071800-108097800	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr9:108072200-108090200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr9:108072200-108090400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr9:108072400-108087200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr9:108072400-108094200	Weak transcription	HSMM	muscle
49	chr9:108072400-108098800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr9:108072600-108082000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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