Variant report

Variant	rs60728742
Chromosome Location	chr8:102507532-102507533
allele	A/G
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:24)
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:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:102037868..102040080-chr8:102505791..102507611,2	MCF-7	breast:
2	chr8:102337542..102358418-chr8:102498403..102509669,87	MCF-7	breast:
3	chr8:102505524..102507840-chr8:102565168..102568035,3	MCF-7	breast:
4	chr8:102366174..102402527-chr8:102495873..102512355,186	MCF-7	breast:
5	chr8:102402569..102408629-chr8:102502856..102508138,9	MCF-7	breast:
6	chr22:29137084..29138986-chr8:102507009..102508835,2	MCF-7	breast:
7	chr21:34774369..34776334-chr8:102505341..102508249,2	MCF-7	breast:
8	chr8:102408964..102412337-chr8:102505199..102507789,3	MCF-7	breast:
9	chr8:102503148..102509288-chr8:102639386..102649682,19	MCF-7	breast:
10	chr8:102326841..102405579-chr8:102488885..102536287,493	MCF-7	breast:
11	chr14:103188812..103191786-chr8:102505927..102508516,2	MCF-7	breast:
12	chr8:102421200..102423385-chr8:102506530..102508176,2	MCF-7	breast:
13	chr8:102505869..102508216-chr8:102632602..102635054,2	MCF-7	breast:
14	chr8:102506296..102507822-chr8:102594353..102596258,2	MCF-7	breast:
15	chr20:52327822..52329367-chr8:102505228..102507771,2	MCF-7	breast:
16	chr17:59982925..59985876-chr8:102505164..102507561,2	MCF-7	breast:
17	chr17:57914083..57915750-chr8:102506041..102508280,2	MCF-7	breast:
18	chr8:102504533..102507820-chr9:114657351..114661372,3	MCF-7	breast:
19	chr17:57929450..57932416-chr8:102505119..102509034,4	MCF-7	breast:
20	chr17:57928766..57930438-chr8:102505580..102508239,2	MCF-7	breast:
21	chr1:149858149..149860627-chr8:102506231..102508763,2	MCF-7	breast:
22	chr20:53106793..53109729-chr8:102506334..102509246,2	MCF-7	breast:
23	chr8:102505170..102507558-chr8:103249030..103250734,2	MCF-7	breast:
24	chr8:102499850..102508532-chr8:102642696..102652505,26	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000254024	TF binding region
ENSG00000100209	Chromatin interaction
ENSG00000253644	Chromatin interaction
ENSG00000228224	Chromatin interaction
ENSG00000062716	Chromatin interaction
ENSG00000254063	Chromatin interaction
ENSG00000148154	Chromatin interaction
ENSG00000271560	Chromatin interaction
ENSG00000239211	Chromatin interaction
ENSG00000159128	Chromatin interaction
ENSG00000083307	Chromatin interaction
ENSG00000184678	Chromatin interaction
ENSG00000184270	Chromatin interaction
ENSG00000178096	Chromatin interaction
ENSG00000183765	Chromatin interaction
ENSG00000184260	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]
rs60758999	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:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:102501200-102507600	Active TSS	Placenta Amnion	Placenta Amnion
2	chr8:102503400-102507600	Active TSS	H1 Cell Line	embryonic stem cell
3	chr8:102503600-102507600	Active TSS	Pancreas	Pancrea
4	chr8:102503800-102507600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
5	chr8:102504000-102507800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr8:102504400-102507600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr8:102506400-102507600	Bivalent/Poised TSS	Fetal Lung	lung
8	chr8:102506600-102507600	Bivalent Enhancer	Primary hematopoietic stem cells	blood
9	chr8:102506600-102507600	Bivalent/Poised TSS	Fetal Stomach	stomach
10	chr8:102506800-102507600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
11	chr8:102506800-102507600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr8:102506800-102507800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
13	chr8:102506800-102508800	Weak transcription	Gastric	stomach
14	chr8:102506800-102508800	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr8:102507000-102507600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr8:102507000-102507600	Bivalent Enhancer	Primary T cells from cord blood	blood
17	chr8:102507000-102507600	Active TSS	Rectal Mucosa Donor 29	rectum
18	chr8:102507000-102507800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr8:102507000-102507800	Flanking Active TSS	HMEC	breast
20	chr8:102507000-102508000	Flanking Active TSS	NHEK	skin
21	chr8:102507200-102507600	Flanking Active TSS	H9 Cell Line	embryonic stem cell
22	chr8:102507200-102507600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
23	chr8:102507200-102507600	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
24	chr8:102507200-102507600	Bivalent Enhancer	Stomach Mucosa	stomach
25	chr8:102507400-102507600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr8:102507400-102507600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr8:102507400-102507600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
28	chr8:102507400-102507600	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
29	chr8:102507400-102507600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
30	chr8:102507400-102507600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr8:102507400-102507600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr8:102507400-102507600	Enhancers	Colonic Mucosa	Colon
33	chr8:102507400-102507600	Flanking Active TSS	Duodenum Mucosa	Duodenum
34	chr8:102507400-102507600	Flanking Bivalent TSS/Enh	Fetal Kidney	kidney
35	chr8:102507400-102507600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
36	chr8:102507400-102510400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr8:102507400-102513400	Weak transcription	Fetal Intestine Small	intestine
38	chr8:102507400-102526600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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