Variant report

Variant	rs58060795
Chromosome Location	chr8:86132161-86132162
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:55)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:55 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GABPA	chr8:86132125-86133306	MCF-7	breast:	n/a	n/a
2	SMC3	chr8:86132112-86133373	SK-N-SH	brain:	n/a	n/a
3	SIN3AK20	chr8:86132053-86133407	MCF-7	breast:	n/a	n/a
4	RELA	chr8:86132131-86133220	GM18951	blood:	n/a	n/a
5	RAD21	chr8:86132022-86133624	SK-N-SH	brain:	n/a	chr8:86133021-86133035
6	GABPA	chr8:86132073-86133243	A549	lung:	n/a	n/a
7	POLR2A	chr8:86132157-86133224	GM12892	blood:	n/a	n/a
8	MAX	chr8:86132138-86133272	ECC-1	luminal epithelium:	n/a	n/a
9	MAX	chr8:86132102-86133268	MCF-7	breast:	n/a	n/a
10	TCF7L2	chr8:86132147-86133210	Hela-S3	cervix:	n/a	n/a
11	CTCF	chr8:86132045-86133506	SK-N-SH	brain:	n/a	chr8:86133022-86133035 chr8:86133019-86133037
12	MAX	chr8:86132116-86133210	K562	blood:	n/a	n/a
13	POLR2A	chr8:86132148-86133156	GM12878	blood:	n/a	n/a
14	POLR2A	chr8:86132140-86133482	GM12878	blood:	n/a	n/a
15	MAX	chr8:86132116-86133110	K562	blood:	n/a	n/a
16	NR2F2	chr8:86131937-86133100	K562	blood:	n/a	n/a
17	MAX	chr8:86132018-86133343	A549	lung:	n/a	chr8:86132051-86132060
18	MTA3	chr8:86131971-86133281	GM12878	blood:	n/a	n/a
19	MYC	chr8:86132102-86133125	MCF10A-Er-Src	breast:	n/a	n/a
20	MAX	chr8:86132140-86133251	A549	lung:	n/a	n/a
21	NFIC	chr8:86132158-86133249	HepG2	liver:	n/a	n/a
22	POLR2A	chr8:86132032-86133353	MCF10A-Er-Src	breast:	n/a	n/a
23	MAX	chr8:86132144-86133248	GM12878	blood:	n/a	n/a
24	HCFC1	chr8:86131958-86133374	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr8:86132023-86133200	PANC-1	pancreas:	n/a	n/a
26	POLR2A	chr8:86132124-86133235	GM12892	blood:	n/a	n/a
27	POLR2A	chr8:86132121-86133262	GM18505	blood:	n/a	n/a
28	POLR2A	chr8:86132129-86133223	HCT-116	colon:	n/a	n/a
29	POLR2A	chr8:86129819-86133333	SK-N-MC	brain:	n/a	n/a
30	POLR2A	chr8:86132037-86133213	PFSK-1	brain:	n/a	n/a
31	TAF1	chr8:86132140-86132464	GM12878	blood:	n/a	n/a
32	RUNX3	chr8:86132134-86133272	GM12878	blood:	n/a	n/a
33	POLR2A	chr8:86132142-86132892	HUVEC	blood vessel:	n/a	n/a
34	POLR2A	chr8:86132103-86133049	ProgFib	skin:	n/a	n/a
35	POLR2A	chr8:86132128-86133136	GM12892	blood:	n/a	n/a
36	POLR2A	chr8:86132152-86133368	MCF10A-Er-Src	breast:	n/a	n/a
37	GABPA	chr8:86131953-86133423	MCF-7	breast:	n/a	n/a
38	POLR2A	chr8:86132075-86134320	GM12891	blood:	n/a	n/a
39	POLR2A	chr8:86132101-86133234	GM12878	blood:	n/a	n/a
40	SIN3AK20	chr8:86132147-86132405	H1-hESC	embryonic stem cell:	n/a	n/a
41	SIN3A	chr8:86132092-86133324	H1-hESC	embryonic stem cell:	n/a	chr8:86132186-86132196 chr8:86132983-86132994
42	POLR2A	chr8:86132134-86133237	Raji	blood:	n/a	n/a
43	CREB1	chr8:86132124-86133276	GM12878	blood:	n/a	n/a
44	RUNX3	chr8:86132146-86133323	GM12878	blood:	n/a	n/a
45	BCLAF1	chr8:86132047-86133270	GM12878	blood:	n/a	chr8:86132985-86132994 chr8:86133030-86133038
46	POLR2A	chr8:86132093-86133277	HCT-116	colon:	n/a	n/a
47	POLR2A	chr8:86132149-86133172	HepG2	liver:	n/a	n/a
48	HEY1	chr8:86132124-86133145	HepG2	liver:	n/a	n/a
49	MAX	chr8:86132077-86133217	Hela-S3	cervix:	n/a	n/a
50	POLR2A	chr8:86131048-86133285	SK-N-MC	brain:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:86129179..86130942-chr8:86131106..86134281,3	MCF-7	breast:
2	chr8:86087523..86090287-chr8:86131220..86133061,4	K562	blood:
3	chr8:86130748..86132685-chr8:87519056..87520763,2	K562	blood:
4	chr8:86125394..86127855-chr8:86131977..86134501,2	MCF-7	breast:
5	chr8:86088150..86092119-chr8:86130217..86134794,5	K562	blood:
6	chr8:86131617..86133252-chr8:86160556..86162129,2	MCF-7	breast:
7	chr8:86130126..86132730-chr8:86156867..86158422,2	K562	blood:
8	chr8:86088315..86091850-chr8:86128947..86134706,9	MCF-7	breast:
9	chr8:86088356..86092364-chr8:86131123..86134666,8	MCF-7	breast:

No data

Variant related genes	Relation type
CA13	TF binding region
C8orf59	TF binding region
ENSG00000257962	Chromatin interaction
ENSG00000254208	Chromatin interaction
ENSG00000176623	Chromatin interaction
ENSG00000260493	Chromatin interaction
ENSG00000176731	Chromatin interaction
ENSG00000258256	Chromatin interaction
ENSG00000185015	Chromatin interaction
ENSG00000133740	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs12216844	1.00[EUR][1000 genomes]
rs2432069	1.00[EUR][1000 genomes]
rs2432070	1.00[EUR][1000 genomes]
rs2432071	1.00[EUR][1000 genomes]
rs2432075	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2432076	1.00[EUR][1000 genomes]
rs2432077	1.00[EUR][1000 genomes]
rs2432078	1.00[EUR][1000 genomes]
rs2432084	1.00[EUR][1000 genomes]
rs2452678	1.00[EUR][1000 genomes]
rs2452679	1.00[EUR][1000 genomes]
rs2453870	1.00[EUR][1000 genomes]
rs2466766	1.00[EUR][1000 genomes]
rs2466767	1.00[EUR][1000 genomes]
rs2466770	1.00[EUR][1000 genomes]
rs2466772	1.00[EUR][1000 genomes]
rs4150842	0.94[AFR][1000 genomes]
rs4150875	0.94[AFR][1000 genomes]
rs4150888	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4150892	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4150899	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4150963	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4150978	0.94[AFR][1000 genomes]
rs55716338	0.81[AFR][1000 genomes]
rs56000993	0.81[AFR][1000 genomes]
rs56257706	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56391532	0.81[AFR][1000 genomes]
rs56696632	0.81[AFR][1000 genomes]
rs57413097	0.81[AFR][1000 genomes]
rs58078635	0.81[AFR][1000 genomes]
rs58532476	0.81[AFR][1000 genomes]
rs58547590	0.81[AFR][1000 genomes]
rs61315346	0.81[AFR][1000 genomes]
rs61611893	1.00[AMR][1000 genomes]
rs73688685	0.94[AFR][1000 genomes]
rs73688687	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73688689	0.81[AFR][1000 genomes]
rs73688696	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73688700	0.81[AFR][1000 genomes]
rs73691803	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73691805	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73691806	0.81[AFR][1000 genomes]
rs73691808	0.81[AFR][1000 genomes]
rs73691810	0.81[AFR][1000 genomes]
rs73691811	0.81[AFR][1000 genomes]
rs73691812	0.81[AFR][1000 genomes]
rs73691814	0.81[AFR][1000 genomes]
rs73691815	0.81[AFR][1000 genomes]
rs73691817	0.81[AFR][1000 genomes]
rs73691820	0.81[AFR][1000 genomes]
rs73691824	0.81[AFR][1000 genomes]
rs9644809	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9650670	1.00[ASN][1000 genomes]
rs9650671	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9650672	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9650673	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3481417	chr8:85279453-86145229	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	esv3481418	chr8:85279453-86145229	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv971329	chr8:86094967-86183119	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:86121600-86132200	Weak transcription	Gastric	stomach
2	chr8:86128600-86132200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr8:86128600-86132200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:86128800-86132200	Weak transcription	Esophagus	oesophagus
5	chr8:86128800-86132200	Weak transcription	Small Intestine	intestine
6	chr8:86129000-86132200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr8:86131200-86132200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr8:86131200-86134000	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr8:86131400-86132200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr8:86131400-86132400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr8:86131400-86132400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr8:86131400-86133200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr8:86131400-86133200	Active TSS	Muscle Satellite Cultured Cells	--
14	chr8:86131400-86133600	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr8:86131400-86133800	Active TSS	iPS-18 Cell Line	embryonic stem cell
16	chr8:86131400-86134200	Active TSS	H1 Cell Line	embryonic stem cell
17	chr8:86131400-86134200	Active TSS	NH-A	brain
18	chr8:86131400-86134400	Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr8:86131400-86134600	Active TSS	Rectal Mucosa Donor 29	rectum
20	chr8:86131400-86135000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr8:86131600-86132200	Enhancers	Spleen	Spleen
22	chr8:86131600-86132200	Active TSS	HepG2	liver
23	chr8:86131600-86132400	Flanking Active TSS	Primary T cells from cord blood	blood
24	chr8:86131600-86133200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr8:86131600-86133200	Active TSS	HSMM	muscle
26	chr8:86131600-86133200	Active TSS	K562	blood
27	chr8:86131600-86133400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr8:86131600-86133400	Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr8:86131600-86133400	Active TSS	Duodenum Mucosa	Duodenum
30	chr8:86131600-86133400	Active TSS	NHLF	lung
31	chr8:86131600-86133600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr8:86131600-86133600	Active TSS	Brain Germinal Matrix	brain
33	chr8:86131600-86133600	Active TSS	Rectal Mucosa Donor 31	rectum
34	chr8:86131600-86133600	Active TSS	Hela-S3	cervix
35	chr8:86131600-86133800	Active TSS	Pancreas	Pancrea
36	chr8:86131600-86134000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr8:86131600-86134200	Active TSS	iPS-15b Cell Line	embryonic stem cell
38	chr8:86131600-86134200	Active TSS	iPS-20b Cell Line	embryonic stem cell
39	chr8:86131600-86134200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr8:86131600-86134200	Active TSS	Fetal Brain Female	brain
41	chr8:86131600-86134400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr8:86131600-86134400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr8:86131600-86134400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr8:86131600-86134600	Active TSS	HMEC	breast
45	chr8:86131600-86135000	Active TSS	HUES6 Cell Line	embryonic stem cell
46	chr8:86131600-86135400	Active TSS	GM12878-XiMat	blood
47	chr8:86131800-86132200	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
48	chr8:86131800-86132200	Weak transcription	Left Ventricle	heart
49	chr8:86131800-86132400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
50	chr8:86131800-86132400	Flanking Active TSS	Adipose Nuclei	Adipose

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