Variant report

Variant	rs62493868
Chromosome Location	chr8:9416348-9416349
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	IRF1	chr8:9416301-9416441	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:9413509..9415048-chr8:9415515..9417474,2	MCF-7	breast:
2	chr8:9413652..9415403-chr8:9416185..9419439,4	MCF-7	breast:
3	chr8:9413105..9415000-chr8:9415531..9419993,5	K562	blood:

Variant related genes	Relation type
ENSG00000272267	TF binding region
ENSG00000272267	Chromatin interaction
ENSG00000173273	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10087012	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10087166	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10088039	0.81[EUR][1000 genomes]
rs10088969	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10097438	0.81[EUR][1000 genomes]
rs10098758	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10101953	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10102030	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10103426	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10111980	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10112600	0.81[EUR][1000 genomes]
rs10503380	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11984585	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11985349	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11995920	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12541409	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12543534	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12548306	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12675476	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12675511	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12676898	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12681719	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13271097	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17150237	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28622033	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28668310	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs33945943	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34206126	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34324628	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34790717	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4128199	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4372006	0.80[EUR][1000 genomes]
rs4840427	0.83[ASN][1000 genomes]
rs4840428	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4841173	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4841174	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4841175	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57453266	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58238328	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61551896	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6601330	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6601331	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6601332	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6601333	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6601334	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6601335	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6601336	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6601337	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6601339	0.80[EUR][1000 genomes]
rs66516712	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67706102	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6980831	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6986386	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6989126	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6990097	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6990590	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7013500	0.87[EUR][1000 genomes]
rs73193784	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7814014	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7815817	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7821559	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7822548	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7832096	0.81[EUR][1000 genomes]
rs7834823	0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7844450	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7846140	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9329202	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9329203	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9644677	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[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	nsv530864	chr8:9097498-9914548	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv497927	chr8:9097611-9544519	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1033031	chr8:9310266-9418941	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:9412200-9416800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr8:9412600-9417000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr8:9414000-9416800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr8:9414200-9416400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr8:9414200-9417200	Flanking Active TSS	Dnd41	blood
6	chr8:9414400-9416400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
7	chr8:9414400-9416800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr8:9414400-9420600	Weak transcription	Esophagus	oesophagus
9	chr8:9414400-9459600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:9414600-9416400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
11	chr8:9414600-9416800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr8:9414600-9416800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
13	chr8:9414600-9417600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr8:9414600-9417600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr8:9414800-9416400	Enhancers	Colon Smooth Muscle	Colon
16	chr8:9414800-9416600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr8:9414800-9416600	Enhancers	Fetal Heart	heart
18	chr8:9414800-9416800	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr8:9414800-9417000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr8:9414800-9417200	Enhancers	Primary T cells from cord blood	blood
21	chr8:9414800-9417200	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr8:9414800-9417200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr8:9414800-9417200	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr8:9414800-9417200	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr8:9414800-9417400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr8:9414800-9417600	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr8:9414800-9418000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr8:9414800-9418800	Weak transcription	Ovary	ovary
29	chr8:9414800-9419200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr8:9414800-9427800	Weak transcription	Right Ventricle	heart
31	chr8:9415000-9416600	Active TSS	K562	blood
32	chr8:9415000-9416800	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr8:9415000-9416800	Enhancers	Hela-S3	cervix
34	chr8:9415000-9417200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr8:9415000-9417200	Enhancers	Adipose Nuclei	Adipose
36	chr8:9415000-9417400	Enhancers	A549	lung
37	chr8:9415000-9435400	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr8:9415200-9416600	Enhancers	Brain Substantia Nigra	brain
39	chr8:9415200-9416800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr8:9415200-9417000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr8:9415400-9416400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr8:9415600-9416400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr8:9415600-9416600	Weak transcription	Small Intestine	intestine
44	chr8:9415600-9416800	Enhancers	HMEC	breast
45	chr8:9415600-9416800	Enhancers	HUVEC	blood vessel
46	chr8:9415600-9417000	Enhancers	Primary hematopoietic stem cells short term culture	blood
47	chr8:9415600-9417200	Enhancers	Liver	Liver
48	chr8:9415800-9416400	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr8:9415800-9416400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr8:9415800-9416400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet

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