Variant report

Variant	rs17793991
Chromosome Location	chr8:62566588-62566589
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	chr8:62566480-62566814	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr8:62566485-62566685	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr8:62565846-62566672	U87	brain:	n/a	n/a
4	POLR2A	chr8:62565813-62566666	U87	brain:	n/a	n/a
5	POLR2A	chr8:62566537-62573375	IMR90	lung:	n/a	n/a
6	POLR2A	chr8:62561248-62582430	K562	blood:	n/a	n/a
7	BCL3	chr8:62563980-62572054	A549	lung:	n/a	chr8:62567590-62567599 chr8:62571989-62571998 chr8:62567589-62567598 chr8:62564358-62564365 chr8:62564894-62564903
8	POLR2A	chr8:62563214-62566652	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:62564849..62567095-chr8:62625501..62628132,2	MCF-7	breast:
2	chr8:62564124..62567084-chr8:62621412..62624391,3	MCF-7	breast:
3	chr8:62560140..62569925-chr8:62619825..62628019,19	K562	blood:
4	chr8:62566089..62569797-chr8:62569988..62576057,8	K562	blood:

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

Extended variants
information (count: 43 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10090651	0.96[CEU][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10098691	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10099866	0.80[EUR][1000 genomes]
rs10111006	0.96[CEU][hapmap];0.84[EUR][1000 genomes]
rs11986004	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11992990	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13250696	0.83[YRI][hapmap]
rs16927652	0.96[CEU][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs16927767	0.96[CEU][hapmap];0.81[EUR][1000 genomes]
rs17205360	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2350917	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs2350925	0.96[CEU][hapmap];0.81[EUR][1000 genomes]
rs2882536	0.89[CEU][hapmap];0.81[EUR][1000 genomes]
rs35337652	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35550451	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35683980	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4272369	0.83[CEU][hapmap]
rs4354302	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4377960	0.84[CEU][hapmap]
rs4446731	0.81[EUR][1000 genomes]
rs4515541	0.96[CEU][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4633055	0.96[CEU][hapmap];0.83[EUR][1000 genomes]
rs6471968	0.96[CEU][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6549	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs67189750	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6984286	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs6985520	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs6990099	0.96[CEU][hapmap];0.80[EUR][1000 genomes]
rs7009611	0.96[CEU][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7015043	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs7813834	0.84[EUR][1000 genomes]
rs7830237	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7840731	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7842421	0.96[CEU][hapmap];0.86[EUR][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:84 , 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	chr8:62534000-62612400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:62535400-62566800	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr8:62542600-62567000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr8:62542800-62600000	Weak transcription	Psoas Muscle	Psoas
8	chr8:62544600-62573800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr8:62548400-62567200	Strong transcription	NHDF-Ad	bronchial
10	chr8:62550400-62571400	Weak transcription	Right Ventricle	heart
11	chr8:62550400-62601400	Weak transcription	Colonic Mucosa	Colon
12	chr8:62550600-62585800	Weak transcription	Esophagus	oesophagus
13	chr8:62550600-62601000	Weak transcription	Colon Smooth Muscle	Colon
14	chr8:62552400-62567200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr8:62552400-62590600	Weak transcription	Primary T cells from cord blood	blood
16	chr8:62553000-62567000	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr8:62553000-62588400	Weak transcription	Spleen	Spleen
18	chr8:62553000-62603800	Weak transcription	Pancreas	Pancrea
19	chr8:62553200-62595200	Weak transcription	Fetal Lung	lung
20	chr8:62553200-62603800	Weak transcription	Gastric	stomach
21	chr8:62553400-62600000	Weak transcription	Rectal Smooth Muscle	rectum
22	chr8:62553600-62569800	Weak transcription	Primary hematopoietic stem cells	blood
23	chr8:62553600-62597800	Weak transcription	Fetal Intestine Large	intestine
24	chr8:62554800-62588400	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr8:62555000-62581400	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr8:62555000-62601200	Weak transcription	Brain Hippocampus Middle	brain
27	chr8:62556000-62567400	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr8:62556400-62568800	Weak transcription	HUVEC	blood vessel
29	chr8:62556800-62594600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr8:62557000-62573600	Weak transcription	HepG2	liver
31	chr8:62557000-62584400	Weak transcription	Stomach Smooth Muscle	stomach
32	chr8:62557200-62577000	Weak transcription	Left Ventricle	heart
33	chr8:62557600-62567200	Weak transcription	K562	blood
34	chr8:62557600-62567400	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr8:62558000-62573800	Weak transcription	Right Atrium	heart
36	chr8:62558600-62585600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr8:62558600-62590400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr8:62558800-62585600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr8:62558800-62602200	Weak transcription	Aorta	Aorta
40	chr8:62558800-62602600	Weak transcription	Fetal Intestine Small	intestine
41	chr8:62559600-62567200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr8:62559600-62575600	Weak transcription	Fetal Muscle Trunk	muscle
43	chr8:62559600-62585600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr8:62559600-62585800	Weak transcription	Lung	lung
45	chr8:62559600-62588200	Weak transcription	HSMMtube	muscle
46	chr8:62559600-62594600	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr8:62559800-62577600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr8:62560000-62573800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr8:62560800-62567600	Weak transcription	Liver	Liver
50	chr8:62560800-62569800	Genic enhancers	A549	lung

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