Variant report

Variant	rs11992990
Chromosome Location	chr8:62568316-62568317
allele	A/G
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	chr8:62566896-62568373	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr8:62566678-62569225	U87	brain:	n/a	n/a
3	POLR2A	chr8:62568308-62568883	U87	brain:	n/a	n/a
4	SIX5	chr8:62566725-62568317	A549	lung:	n/a	chr8:62568119-62568128
5	POLR2A	chr8:62567066-62568934	PFSK-1	brain:	n/a	n/a
6	STAT3	chr8:62568037-62568622	MCF10A-Er-Src	breast:	n/a	chr8:62568388-62568395
7	POLR2A	chr8:62566967-62568648	HepG2	liver:	n/a	n/a
8	KAP1	chr8:62567565-62569442	HEK293	kidney:	n/a	chr8:62568229-62568237
9	POLR2A	chr8:62566854-62576336	A549	lung:	n/a	n/a
10	POLR2A	chr8:62566684-62569225	U87	brain:	n/a	n/a
11	POLR2A	chr8:62566537-62573375	IMR90	lung:	n/a	n/a
12	POLR2A	chr8:62561248-62582430	K562	blood:	n/a	n/a
13	BCL3	chr8:62563980-62572054	A549	lung:	n/a	chr8:62567590-62567599 chr8:62571989-62571998 chr8:62567589-62567598 chr8:62564358-62564365 chr8:62564894-62564903
14	POLR2A	chr8:62566857-62568883	U87	brain:	n/a	n/a
15	BCL3	chr8:62566836-62568375	A549	lung:	n/a	chr8:62567590-62567599 chr8:62567589-62567598

No.	Distal block	Cell Line	Cell type
1	chr8:62563951..62566121-chr8:62567672..62569937,2	K562	blood:
2	chr8:62567338..62569244-chr8:62572481..62574021,2	K562	blood:
3	chr8:62560140..62569925-chr8:62619825..62628019,19	K562	blood:
4	chr8:62566089..62569797-chr8:62569988..62576057,8	K562	blood:
5	chr8:62562806..62567589-chr8:62567672..62571584,5	K562	blood:
6	chr8:62567262..62573065-chr8:62621554..62624953,7	K562	blood:
7	chr8:62566778..62568715-chr8:62631326..62633040,2	K562	blood:

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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10098691	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10099866	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10111006	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11986004	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13255699	0.92[EUR][1000 genomes]
rs16927652	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16927767	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17205360	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17793991	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2350917	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2350925	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2882536	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35337652	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35550451	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35683980	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4354302	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4446731	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4515541	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4633055	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6471968	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6549	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67189750	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6984286	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6985520	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6990099	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7009611	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7015043	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7813834	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7830237	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7840731	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7842421	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62513000-62594800	Weak transcription	Brain Anterior Caudate	brain
2	chr8:62518000-62597600	Weak transcription	Small Intestine	intestine
3	chr8:62534000-62612400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:62542800-62600000	Weak transcription	Psoas Muscle	Psoas
5	chr8:62544600-62573800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr8:62550400-62571400	Weak transcription	Right Ventricle	heart
7	chr8:62550400-62601400	Weak transcription	Colonic Mucosa	Colon
8	chr8:62550600-62585800	Weak transcription	Esophagus	oesophagus
9	chr8:62550600-62601000	Weak transcription	Colon Smooth Muscle	Colon
10	chr8:62552400-62590600	Weak transcription	Primary T cells from cord blood	blood
11	chr8:62553000-62588400	Weak transcription	Spleen	Spleen
12	chr8:62553000-62603800	Weak transcription	Pancreas	Pancrea
13	chr8:62553200-62595200	Weak transcription	Fetal Lung	lung
14	chr8:62553200-62603800	Weak transcription	Gastric	stomach
15	chr8:62553400-62600000	Weak transcription	Rectal Smooth Muscle	rectum
16	chr8:62553600-62569800	Weak transcription	Primary hematopoietic stem cells	blood
17	chr8:62553600-62597800	Weak transcription	Fetal Intestine Large	intestine
18	chr8:62554800-62588400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr8:62555000-62581400	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr8:62555000-62601200	Weak transcription	Brain Hippocampus Middle	brain
21	chr8:62556400-62568800	Weak transcription	HUVEC	blood vessel
22	chr8:62556800-62594600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr8:62557000-62573600	Weak transcription	HepG2	liver
24	chr8:62557000-62584400	Weak transcription	Stomach Smooth Muscle	stomach
25	chr8:62557200-62577000	Weak transcription	Left Ventricle	heart
26	chr8:62558000-62573800	Weak transcription	Right Atrium	heart
27	chr8:62558600-62585600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr8:62558600-62590400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr8:62558800-62585600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr8:62558800-62602200	Weak transcription	Aorta	Aorta
31	chr8:62558800-62602600	Weak transcription	Fetal Intestine Small	intestine
32	chr8:62559600-62575600	Weak transcription	Fetal Muscle Trunk	muscle
33	chr8:62559600-62585600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr8:62559600-62585800	Weak transcription	Lung	lung
35	chr8:62559600-62588200	Weak transcription	HSMMtube	muscle
36	chr8:62559600-62594600	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr8:62559800-62577600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr8:62560000-62573800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr8:62560800-62569800	Genic enhancers	A549	lung
40	chr8:62561000-62568800	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr8:62561000-62569000	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr8:62561000-62584400	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr8:62561000-62598000	Weak transcription	Placenta	Placenta
44	chr8:62561000-62602200	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr8:62562400-62568800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr8:62563400-62569000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr8:62563400-62594800	Weak transcription	Duodenum Mucosa	Duodenum
48	chr8:62563400-62603000	Weak transcription	Fetal Stomach	stomach
49	chr8:62563800-62590400	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr8:62564200-62581400	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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