Variant report

Variant	rs60758999
Chromosome Location	chr8:102507625-102507626
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:102502831-102507688	MCF-7	breast:	n/a	n/a
2	GATA3	chr8:102506823-102507907	T-47D	breast:	n/a	n/a
3	FOXA1	chr8:102507477-102507833	T-47D	breast:	n/a	n/a
4	HDAC2	chr8:102503502-102507679	MCF-7	breast:	n/a	chr8:102505260-102505274
5	GATA3	chr8:102503623-102507890	MCF-7	breast:	n/a	n/a
6	CEBPB	chr8:102506787-102507820	MCF-7	breast:	n/a	n/a
7	MAX	chr8:102503652-102507680	MCF-7	breast:	n/a	chr8:102506109-102506119 chr8:102507319-102507328
8	GATA3	chr8:102503645-102507830	MCF-7	breast:	n/a	n/a
9	GATA3	chr8:102507284-102507798	T-47D	breast:	n/a	n/a
10	CEBPB	chr8:102506596-102507762	MCF-7	breast:	n/a	n/a
11	SIN3AK20	chr8:102503328-102508201	MCF-7	breast:	n/a	n/a
12	FOXA1	chr8:102507061-102507654	T-47D	breast:	n/a	n/a

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:102337542..102358418-chr8:102498403..102509669,87	MCF-7	breast:
2	chr8:102505524..102507840-chr8:102565168..102568035,3	MCF-7	breast:
3	chr8:102366174..102402527-chr8:102495873..102512355,186	MCF-7	breast:
4	chr8:102402569..102408629-chr8:102502856..102508138,9	MCF-7	breast:
5	chr22:29137084..29138986-chr8:102507009..102508835,2	MCF-7	breast:
6	chr21:34774369..34776334-chr8:102505341..102508249,2	MCF-7	breast:
7	chr8:102408964..102412337-chr8:102505199..102507789,3	MCF-7	breast:
8	chr8:102503148..102509288-chr8:102639386..102649682,19	MCF-7	breast:
9	chr8:102326841..102405579-chr8:102488885..102536287,493	MCF-7	breast:
10	chr14:103188812..103191786-chr8:102505927..102508516,2	MCF-7	breast:
11	chr8:102421200..102423385-chr8:102506530..102508176,2	MCF-7	breast:
12	chr8:102505869..102508216-chr8:102632602..102635054,2	MCF-7	breast:
13	chr8:102506296..102507822-chr8:102594353..102596258,2	MCF-7	breast:
14	chr20:52327822..52329367-chr8:102505228..102507771,2	MCF-7	breast:
15	chr17:57914083..57915750-chr8:102506041..102508280,2	MCF-7	breast:
16	chr8:102504533..102507820-chr9:114657351..114661372,3	MCF-7	breast:
17	chr17:57929450..57932416-chr8:102505119..102509034,4	MCF-7	breast:
18	chr17:57928766..57930438-chr8:102505580..102508239,2	MCF-7	breast:
19	chr1:149858149..149860627-chr8:102506231..102508763,2	MCF-7	breast:
20	chr20:53106793..53109729-chr8:102506334..102509246,2	MCF-7	breast:
21	chr8:102499850..102508532-chr8:102642696..102652505,26	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000254024	TF binding region
ENSG00000228224	Chromatin interaction
ENSG00000148154	Chromatin interaction
ENSG00000062716	Chromatin interaction
ENSG00000184678	Chromatin interaction
ENSG00000183765	Chromatin interaction
ENSG00000271560	Chromatin interaction
ENSG00000239211	Chromatin interaction
ENSG00000184260	Chromatin interaction
ENSG00000184270	Chromatin interaction
ENSG00000178096	Chromatin interaction
ENSG00000083307	Chromatin interaction
ENSG00000159128	Chromatin interaction
ENSG00000100209	Chromatin interaction
ENSG00000254063	Chromatin interaction
ENSG00000253644	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11992438	1.00[AMR][1000 genomes]
rs11993289	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16867800	1.00[AMR][1000 genomes]
rs59940281	1.00[AMR][1000 genomes]
rs60728742	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7823875	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7826838	1.00[AMR][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	nsv1024652	chr8:101802121-102587124	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	186 gene(s)	inside rSNPs	diseases
2	nsv539699	chr8:101802121-102587124	Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	186 gene(s)	inside rSNPs	diseases
3	nsv891229	chr8:102490380-102511670	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:102504000-102507800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr8:102506800-102507800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
3	chr8:102506800-102508800	Weak transcription	Gastric	stomach
4	chr8:102506800-102508800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr8:102507000-102507800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr8:102507000-102507800	Flanking Active TSS	HMEC	breast
7	chr8:102507000-102508000	Flanking Active TSS	NHEK	skin
8	chr8:102507400-102510400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr8:102507400-102513400	Weak transcription	Fetal Intestine Small	intestine
10	chr8:102507400-102526600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr8:102507600-102507800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
12	chr8:102507600-102507800	Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr8:102507600-102507800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
14	chr8:102507600-102507800	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
15	chr8:102507600-102507800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr8:102507600-102507800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
17	chr8:102507600-102507800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr8:102507600-102507800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr8:102507600-102507800	Bivalent Enhancer	Fetal Kidney	kidney
20	chr8:102507600-102507800	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr8:102507600-102508000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
22	chr8:102507600-102508000	Enhancers	Fetal Intestine Large	intestine
23	chr8:102507600-102508600	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr8:102507600-102508800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr8:102507600-102508800	Weak transcription	Pancreas	Pancrea
26	chr8:102507600-102508800	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr8:102507600-102509400	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr8:102507600-102509400	Enhancers	Rectal Mucosa Donor 29	rectum
29	chr8:102507600-102510000	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr8:102507600-102513200	Weak transcription	Duodenum Mucosa	Duodenum
31	chr8:102507600-102514400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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