Variant report

Variant	rs8097521
Chromosome Location	chr18:43666952-43666953
allele	A/C
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	POLR2A	chr18:43666929-43666952	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr18:43665796-43667333	K562	blood:	n/a	n/a
3	POLR2A	chr18:43666815-43667250	PFSK-1	brain:	n/a	n/a
4	POLR2A	chr18:43665967-43667319	HepG2	liver:	n/a	n/a
5	POLR2A	chr18:43666943-43667383	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:43666467..43668997-chr18:43669505..43672301,3	K562	blood:

Variant related genes	Relation type
ATP5A1	TF binding region
ENSG00000152234	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs11082509	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11082510	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11659357	0.88[EUR][1000 genomes]
rs11659795	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11661945	0.85[EUR][1000 genomes]
rs11664764	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11872954	0.83[EUR][1000 genomes]
rs11872985	0.83[EUR][1000 genomes]
rs11874712	0.84[EUR][1000 genomes]
rs12954944	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13381709	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1800637	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1800639	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1800640	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2298787	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28457840	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs28504655	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28699609	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34907121	0.86[EUR][1000 genomes]
rs35507656	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3765636	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56075249	0.89[EUR][1000 genomes]
rs56181324	0.88[EUR][1000 genomes]
rs62096500	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7230064	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7235373	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7244921	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7244950	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8083998	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8085444	0.83[EUR][1000 genomes]
rs8085743	0.88[AMR][1000 genomes]
rs8088881	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8089150	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8091452	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8092674	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8093880	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8094902	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8095031	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8095608	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9304326	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9304327	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9304328	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs9783884	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9783887	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9783888	0.82[EUR][1000 genomes]
rs9944637	0.82[EUR][1000 genomes]
rs9945606	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9945751	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9947908	0.81[EUR][1000 genomes]
rs9954278	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9961065	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9962380	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9962458	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064882	chr18:43558343-43687674	Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv543693	chr18:43558343-43687674	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1062024	chr18:43589516-43749410	Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv543694	chr18:43589516-43749410	Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:43653600-43669600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr18:43656200-43667800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr18:43657000-43668400	Strong transcription	GM12878-XiMat	blood
4	chr18:43657000-43672200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
5	chr18:43657200-43669600	Strong transcription	Primary B cells from cord blood	blood
6	chr18:43657200-43673800	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr18:43657200-43674800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr18:43657200-43674800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr18:43657200-43675000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr18:43657200-43675400	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr18:43657200-43675400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr18:43657200-43675600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr18:43657200-43676000	Strong transcription	Osteobl	bone
14	chr18:43657200-43676200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr18:43657400-43669400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr18:43657400-43673400	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr18:43657400-43674600	Strong transcription	Liver	Liver
18	chr18:43657400-43674800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr18:43657400-43675000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr18:43657400-43675200	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr18:43657400-43675400	Strong transcription	Placenta	Placenta
22	chr18:43657400-43675800	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr18:43657400-43675800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr18:43657600-43669400	Strong transcription	Fetal Thymus	thymus
25	chr18:43657600-43672400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr18:43657600-43673400	Strong transcription	Dnd41	blood
27	chr18:43657600-43674400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr18:43657600-43674600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr18:43657600-43675200	Strong transcription	Sigmoid Colon	Sigmoid Colon
30	chr18:43657800-43675200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr18:43657800-43675800	Strong transcription	Fetal Muscle Leg	muscle
32	chr18:43657800-43676600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr18:43658000-43669200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr18:43658000-43670000	Strong transcription	Fetal Stomach	stomach
35	chr18:43658000-43670600	Strong transcription	Primary T helper cells PMA-I stimulated	--
36	chr18:43658000-43670800	Strong transcription	Skeletal Muscle Female	skeletal muscle
37	chr18:43658000-43675400	Strong transcription	Fetal Muscle Trunk	muscle
38	chr18:43658200-43671800	Weak transcription	Right Atrium	heart
39	chr18:43658600-43668400	Strong transcription	Left Ventricle	heart
40	chr18:43658600-43675000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
41	chr18:43658600-43675400	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr18:43658800-43674200	Strong transcription	Duodenum Smooth Muscle	Duodenum
43	chr18:43658800-43674400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr18:43659000-43674800	Strong transcription	HUVEC	blood vessel
45	chr18:43659000-43675200	Strong transcription	Primary B cells from peripheral blood	blood
46	chr18:43659000-43675200	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr18:43659000-43676000	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr18:43659200-43668400	Strong transcription	Adipose Nuclei	Adipose
49	chr18:43659200-43669200	Strong transcription	A549	lung
50	chr18:43659200-43672000	Strong transcription	Muscle Satellite Cultured Cells	--

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