Variant report

Variant	rs7830237
Chromosome Location	chr8:62560587-62560588
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:62560368-62560939	A549	lung:	n/a	n/a
2	POLR2A	chr8:62560265-62560672	U87	brain:	n/a	n/a
3	POLR2A	chr8:62560321-62560995	K562	blood:	n/a	n/a
4	POLR2A	chr8:62560480-62561050	U87	brain:	n/a	n/a
5	EBF1	chr8:62560456-62560613	GM12878	blood:	n/a	n/a
6	POLR2A	chr8:62560254-62560666	U87	brain:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:62560449..62562337-chr8:62608012..62610402,2	K562	blood:
2	chr8:62560140..62569925-chr8:62619825..62628019,19	K562	blood:
3	chr8:62559392..62562129-chr8:62563285..62564793,2	K562	blood:
4	chr8:62556212..62561291-chr8:62561297..62565937,6	K562	blood:

No data

Variant related genes	Relation type
ASPH	TF binding region
ENSG00000264408	Chromatin interaction
ENSG00000198363	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10090651	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10098691	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10099866	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10111006	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11986004	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11992990	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13255699	0.90[EUR][1000 genomes]
rs16927652	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16927767	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17205360	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17793991	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2350917	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2350925	0.91[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2882536	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35337652	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35550451	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35683980	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4354302	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4446731	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4515541	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4633055	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6471968	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6549	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs67189750	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6984286	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6985520	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6990099	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7009611	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7015043	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7813834	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7840731	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7842421	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][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	nsv1024432	chr8:62086247-62898782	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1027742	chr8:62206883-62613533	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv539633	chr8:62206883-62613533	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1021377	chr8:62214279-62596721	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv539634	chr8:62214279-62596721	ZNF genes & repeats Genic enhancers Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv932198	chr8:62336705-62914562	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	nsv890950	chr8:62517963-62617027	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
8	esv2761430	chr8:62517980-62873803	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS 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 miRNA target site	21 gene(s)	inside rSNPs	diseases
9	nsv1015216	chr8:62517980-62873803	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62511400-62567800	Weak transcription	Stomach Mucosa	stomach
2	chr8:62513000-62594800	Weak transcription	Brain Anterior Caudate	brain
3	chr8:62518000-62597600	Weak transcription	Small Intestine	intestine
4	chr8:62532600-62565600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr8:62534000-62612400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:62534400-62561000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr8:62534800-62564000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr8:62534800-62564600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr8:62535400-62566800	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr8:62536200-62564800	Strong transcription	NH-A	brain
11	chr8:62536400-62562200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr8:62537200-62561000	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr8:62540200-62561000	Weak transcription	Brain Germinal Matrix	brain
14	chr8:62540400-62562200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr8:62540600-62566000	Strong transcription	Osteobl	bone
16	chr8:62541000-62563800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr8:62542200-62565000	Strong transcription	Adipose Nuclei	Adipose
18	chr8:62542600-62561000	Weak transcription	Fetal Thymus	thymus
19	chr8:62542600-62565600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr8:62542600-62567000	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr8:62542800-62600000	Weak transcription	Psoas Muscle	Psoas
22	chr8:62543800-62565000	Strong transcription	Hela-S3	cervix
23	chr8:62544600-62573800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr8:62547800-62565000	Strong transcription	HSMM	muscle
25	chr8:62548400-62567200	Strong transcription	NHDF-Ad	bronchial
26	chr8:62548600-62560800	Strong transcription	Liver	Liver
27	chr8:62548800-62561000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr8:62549800-62563400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr8:62550400-62561200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr8:62550400-62564200	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr8:62550400-62571400	Weak transcription	Right Ventricle	heart
32	chr8:62550400-62601400	Weak transcription	Colonic Mucosa	Colon
33	chr8:62550600-62561400	Weak transcription	Brain Cingulate Gyrus	brain
34	chr8:62550600-62562000	Weak transcription	Brain Angular Gyrus	brain
35	chr8:62550600-62585800	Weak transcription	Esophagus	oesophagus
36	chr8:62550600-62601000	Weak transcription	Colon Smooth Muscle	Colon
37	chr8:62552200-62562200	Weak transcription	Fetal Muscle Leg	muscle
38	chr8:62552400-62567200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr8:62552400-62590600	Weak transcription	Primary T cells from cord blood	blood
40	chr8:62553000-62565600	Weak transcription	Fetal Heart	heart
41	chr8:62553000-62567000	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr8:62553000-62588400	Weak transcription	Spleen	Spleen
43	chr8:62553000-62603800	Weak transcription	Pancreas	Pancrea
44	chr8:62553200-62563200	Weak transcription	NHEK	skin
45	chr8:62553200-62595200	Weak transcription	Fetal Lung	lung
46	chr8:62553200-62603800	Weak transcription	Gastric	stomach
47	chr8:62553400-62600000	Weak transcription	Rectal Smooth Muscle	rectum
48	chr8:62553600-62569800	Weak transcription	Primary hematopoietic stem cells	blood
49	chr8:62553600-62597800	Weak transcription	Fetal Intestine Large	intestine
50	chr8:62554800-62588400	Weak transcription	Brain Inferior Temporal Lobe	brain

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