Variant report

Variant	rs35269225
Chromosome Location	chr8:62605216-62605217
allele	C/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	JUND	chr8:62605045-62605582	K562	blood:	n/a	chr8:62605181-62605189 chr8:62605484-62605493 chr8:62605179-62605191
2	POLR2A	chr8:62605077-62605298	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr8:62604996-62605236	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr8:62604942-62605395	Hela-S3	cervix:	n/a	n/a
5	SETDB1	chr8:62604968-62605889	U2OS	brain:	n/a	n/a
6	MAFK	chr8:62605014-62605369	K562	blood:	n/a	chr8:62605182-62605191
7	RCOR1	chr8:62605067-62605314	K562	blood:	n/a	n/a
8	POLR2A	chr8:62604848-62607545	U87	brain:	n/a	n/a
9	POLR2A	chr8:62604841-62611937	K562	blood:	n/a	n/a
10	FOS	chr8:62605025-62605397	MCF10A-Er-Src	breast:	n/a	chr8:62605181-62605189 chr8:62605179-62605191
11	POLR2A	chr8:62604945-62609676	K562	blood:	n/a	n/a
12	POLR2A	chr8:62605049-62605331	A549	lung:	n/a	n/a
13	POLR2A	chr8:62604927-62608320	HepG2	liver:	n/a	n/a
14	FOS	chr8:62605025-62605430	MCF10A-Er-Src	breast:	n/a	chr8:62605181-62605189 chr8:62605179-62605191
15	POLR2A	chr8:62603609-62612048	A549	lung:	n/a	n/a
16	POLR2A	chr8:62603786-62609667	K562	blood:	n/a	n/a
17	STAT3	chr8:62605144-62605254	MCF10A-Er-Src	breast:	n/a	n/a
18	MAFF	chr8:62605034-62605362	K562	blood:	n/a	n/a
19	POLR2A	chr8:62605035-62605754	HepG2	liver:	n/a	n/a
20	ZNF384	chr8:62605162-62605746	K562	blood:	n/a	n/a
21	CUX1	chr8:62605092-62605303	K562	blood:	n/a	n/a
22	MYC	chr8:62605034-62605226	MCF10A-Er-Src	breast:	n/a	chr8:62605180-62605189
23	FOS	chr8:62605059-62605288	MCF10A-Er-Src	breast:	n/a	chr8:62605181-62605189 chr8:62605179-62605191
24	STAT3	chr8:62605161-62605313	MCF10A-Er-Src	breast:	n/a	n/a
25	STAT3	chr8:62605105-62605286	MCF10A-Er-Src	breast:	n/a	n/a
26	MAFK	chr8:62605034-62605348	IMR90	lung:	n/a	chr8:62605182-62605191
27	STAT3	chr8:62605116-62605323	MCF10A-Er-Src	breast:	n/a	n/a
28	POLR2A	chr8:62604925-62605873	Hela-S3	cervix:	n/a	n/a
29	MYC	chr8:62605113-62605313	MCF10A-Er-Src	breast:	n/a	chr8:62605180-62605189
30	MAFK	chr8:62605101-62605616	HepG2	liver:	n/a	chr8:62605182-62605191
31	BACH1	chr8:62605020-62605290	K562	blood:	n/a	chr8:62605178-62605192
32	REST	chr8:62604870-62605461	A549	lung:	n/a	n/a
33	POLR2A	chr8:62604848-62607600	U87	brain:	n/a	n/a
34	SPI1	chr8:62605088-62605321	K562	blood:	n/a	n/a
35	FOS	chr8:62605025-62605353	MCF10A-Er-Src	breast:	n/a	chr8:62605181-62605189 chr8:62605179-62605191

No.	Distal block	Cell Line	Cell type
1	chr8:62597423..62607954-chr8:62618870..62628159,21	K562	blood:
2	chr8:62576759..62578756-chr8:62604008..62606296,2	MCF-7	breast:
3	chr8:62598806..62603846-chr8:62603890..62607885,6	K562	blood:
4	chr8:62603961..62607952-chr8:62619121..62622115,3	MCF-7	breast:

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

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10504331	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12375366	0.85[EUR][1000 genomes]
rs13248720	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13257276	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13262237	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13282552	0.87[ASN][1000 genomes]
rs1878412	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1996376	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35087344	0.91[EUR][1000 genomes]
rs35165876	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35271095	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs36026311	0.92[EUR][1000 genomes]
rs56225427	0.88[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs62505964	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62505968	0.84[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs62505969	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62508861	0.87[EUR][1000 genomes]
rs6471966	0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6986031	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7002770	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7005567	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7012401	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7830027	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7835930	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs949761	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs998427	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
5	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
6	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
7	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:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62534000-62612400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:62579400-62623000	Weak transcription	Brain Cingulate Gyrus	brain
3	chr8:62586000-62605600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:62586000-62606400	Weak transcription	Lung	lung
5	chr8:62590800-62612800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr8:62595600-62609200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr8:62596400-62612400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr8:62597800-62612400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:62599800-62608800	Enhancers	Osteobl	bone
10	chr8:62600200-62605600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr8:62600200-62607600	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr8:62600800-62612200	Weak transcription	Primary T cells from cord blood	blood
13	chr8:62601200-62606400	Weak transcription	Left Ventricle	heart
14	chr8:62601600-62611000	Weak transcription	Colonic Mucosa	Colon
15	chr8:62602200-62608800	Enhancers	NHDF-Ad	bronchial
16	chr8:62602600-62607200	Enhancers	Adipose Nuclei	Adipose
17	chr8:62602800-62606400	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr8:62602800-62606400	Weak transcription	Ovary	ovary
19	chr8:62602800-62607800	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr8:62602800-62612400	Weak transcription	Brain Substantia Nigra	brain
21	chr8:62603000-62605800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr8:62603000-62606000	Enhancers	Muscle Satellite Cultured Cells	--
23	chr8:62603000-62608000	Weak transcription	Right Atrium	heart
24	chr8:62603000-62608000	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr8:62603000-62608200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr8:62603000-62608600	Weak transcription	Brain Anterior Caudate	brain
27	chr8:62603000-62609400	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr8:62603000-62609600	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr8:62603000-62611200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr8:62603000-62612400	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr8:62603000-62612400	Weak transcription	Aorta	Aorta
32	chr8:62603000-62612400	Weak transcription	HSMM	muscle
33	chr8:62603000-62612600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr8:62603000-62612600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr8:62603000-62612800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr8:62603000-62612800	Weak transcription	Brain Hippocampus Middle	brain
37	chr8:62603000-62613600	Weak transcription	Fetal Lung	lung
38	chr8:62603200-62606000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr8:62603200-62609400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr8:62603200-62610600	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr8:62603200-62610800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr8:62603400-62607400	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr8:62603800-62605800	Enhancers	Esophagus	oesophagus
44	chr8:62603800-62605800	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr8:62603800-62606200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr8:62603800-62607000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr8:62603800-62607200	Enhancers	Gastric	stomach
48	chr8:62604200-62606200	Weak transcription	Brain Angular Gyrus	brain
49	chr8:62604200-62608000	Weak transcription	Psoas Muscle	Psoas
50	chr8:62604200-62611200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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