Variant report

Variant	rs6471969
Chromosome Location	chr8:62566832-62566833
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	POLR2A	chr8:62566678-62569225	U87	brain:	n/a	n/a
2	SIX5	chr8:62566725-62568317	A549	lung:	n/a	chr8:62568119-62568128
3	SIN3AK20	chr8:62566817-62568170	A549	lung:	n/a	n/a
4	POLR2A	chr8:62566820-62567900	SK-N-SH	brain:	n/a	n/a
5	POLR2A	chr8:62566684-62569225	U87	brain:	n/a	n/a
6	POLR2A	chr8:62566537-62573375	IMR90	lung:	n/a	n/a
7	POLR2A	chr8:62561248-62582430	K562	blood:	n/a	n/a
8	BCL3	chr8:62563980-62572054	A549	lung:	n/a	chr8:62567590-62567599 chr8:62571989-62571998 chr8:62567589-62567598 chr8:62564358-62564365 chr8:62564894-62564903
9	POLR2A	chr8:62566823-62568062	PANC-1	pancreas:	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:
5	chr8:62566778..62568715-chr8:62631326..62633040,2	K562	blood:

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

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10957196	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11775077	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11782345	0.95[CEU][hapmap]
rs11786863	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11787089	0.82[GIH][hapmap];0.86[LWK][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs11990408	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.96[TSI][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11997478	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.94[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12679293	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16918887	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17546883	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2882460	0.81[GIH][hapmap];0.82[TSI][hapmap]
rs3765162	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55720422	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61430496	0.83[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs6471964	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7015761	1.00[CEU][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs7016408	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72659015	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72659032	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72659034	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72659056	0.82[AFR][1000 genomes]
rs7812327	0.86[GIH][hapmap];0.84[JPT][hapmap]
rs7812552	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7816208	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7822988	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7825861	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7834478	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7836999	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7841144	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[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: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	chr8:62542600-62567000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr8:62542800-62600000	Weak transcription	Psoas Muscle	Psoas
7	chr8:62544600-62573800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr8:62548400-62567200	Strong transcription	NHDF-Ad	bronchial
9	chr8:62550400-62571400	Weak transcription	Right Ventricle	heart
10	chr8:62550400-62601400	Weak transcription	Colonic Mucosa	Colon
11	chr8:62550600-62585800	Weak transcription	Esophagus	oesophagus
12	chr8:62550600-62601000	Weak transcription	Colon Smooth Muscle	Colon
13	chr8:62552400-62567200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr8:62552400-62590600	Weak transcription	Primary T cells from cord blood	blood
15	chr8:62553000-62567000	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr8:62553000-62588400	Weak transcription	Spleen	Spleen
17	chr8:62553000-62603800	Weak transcription	Pancreas	Pancrea
18	chr8:62553200-62595200	Weak transcription	Fetal Lung	lung
19	chr8:62553200-62603800	Weak transcription	Gastric	stomach
20	chr8:62553400-62600000	Weak transcription	Rectal Smooth Muscle	rectum
21	chr8:62553600-62569800	Weak transcription	Primary hematopoietic stem cells	blood
22	chr8:62553600-62597800	Weak transcription	Fetal Intestine Large	intestine
23	chr8:62554800-62588400	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr8:62555000-62581400	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr8:62555000-62601200	Weak transcription	Brain Hippocampus Middle	brain
26	chr8:62556000-62567400	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr8:62556400-62568800	Weak transcription	HUVEC	blood vessel
28	chr8:62556800-62594600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr8:62557000-62573600	Weak transcription	HepG2	liver
30	chr8:62557000-62584400	Weak transcription	Stomach Smooth Muscle	stomach
31	chr8:62557200-62577000	Weak transcription	Left Ventricle	heart
32	chr8:62557600-62567200	Weak transcription	K562	blood
33	chr8:62557600-62567400	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr8:62558000-62573800	Weak transcription	Right Atrium	heart
35	chr8:62558600-62585600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr8:62558600-62590400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr8:62558800-62585600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr8:62558800-62602200	Weak transcription	Aorta	Aorta
39	chr8:62558800-62602600	Weak transcription	Fetal Intestine Small	intestine
40	chr8:62559600-62567200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr8:62559600-62575600	Weak transcription	Fetal Muscle Trunk	muscle
42	chr8:62559600-62585600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr8:62559600-62585800	Weak transcription	Lung	lung
44	chr8:62559600-62588200	Weak transcription	HSMMtube	muscle
45	chr8:62559600-62594600	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr8:62559800-62577600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr8:62560000-62573800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr8:62560800-62567600	Weak transcription	Liver	Liver
49	chr8:62560800-62569800	Genic enhancers	A549	lung
50	chr8:62561000-62568800	Weak transcription	Primary monocytes fromperipheralblood	blood

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