Variant report

Variant	rs61266539
Chromosome Location	chr9:72976974-72976975
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:72972461..72974915-chr9:72975072..72979073,3	K562	blood:
2	chr9:72972401..72973961-chr9:72976176..72979020,2	K562	blood:
3	chr9:72960499..72963877-chr9:72974457..72977439,3	K562	blood:
4	chr9:72974823..72977797-chr9:73034624..73036891,2	MCF-7	breast:
5	chr9:72975577..72978310-chr9:73031242..73034147,2	K562	blood:

Variant related genes	Relation type
ENSG00000198887	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10491653	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1073540	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12683986	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12686312	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12686584	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17052443	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17052748	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17053503	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17053650	0.81[ASN][1000 genomes]
rs2026138	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34061327	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35508139	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3739773	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3739774	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4069793	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4287005	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4410968	0.82[EUR][1000 genomes]
rs4439194	0.82[EUR][1000 genomes]
rs4606121	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4610818	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4621877	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs58219953	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs58662316	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58948879	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs58976318	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs59010963	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs59444215	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs59546243	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs59960592	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs59976188	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs60049462	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61092050	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs716535	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs954808	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][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	nsv1047862	chr9:72746875-73138287	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription 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 miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv831615	chr9:72852705-73019692	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv1049132	chr9:72895382-73005897	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72944000-72978800	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr9:72944000-73002600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr9:72948000-72983400	Weak transcription	HSMMtube	muscle
4	chr9:72948400-72980800	Weak transcription	NHEK	skin
5	chr9:72963800-72977800	Weak transcription	Esophagus	oesophagus
6	chr9:72964200-72980800	Weak transcription	Pancreas	Pancrea
7	chr9:72965800-72979600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr9:72966400-72978400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr9:72966600-72983000	Weak transcription	NHDF-Ad	bronchial
10	chr9:72966800-72978200	Weak transcription	NH-A	brain
11	chr9:72967000-72980600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr9:72967200-72977800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr9:72967200-72979000	Weak transcription	Fetal Muscle Leg	muscle
14	chr9:72967200-72980200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr9:72967400-72989600	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr9:72967600-72977200	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr9:72967600-72979400	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr9:72969000-72982800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr9:72971200-72982200	Weak transcription	Psoas Muscle	Psoas
20	chr9:72972800-72979200	Weak transcription	Fetal Stomach	stomach
21	chr9:72972800-72980000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr9:72972800-72981000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr9:72972800-72982800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr9:72972800-73002400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr9:72973000-72977400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr9:72973000-72980600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr9:72973200-72977800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr9:72973200-72989600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr9:72973400-72977200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr9:72973400-72977800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr9:72973400-72978600	Weak transcription	HSMM	muscle
32	chr9:72973600-72978400	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr9:72973600-72979800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr9:72973600-72980200	Weak transcription	Primary T cells from cord blood	blood
35	chr9:72973800-72979000	Weak transcription	Fetal Muscle Trunk	muscle
36	chr9:72973800-72988800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr9:72974600-72979400	Weak transcription	A549	lung
38	chr9:72976400-72977800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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