Variant report

Variant	rs28535464
Chromosome Location	chr8:91659764-91659765
allele	A/G
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	HA-E2F1	chr8:91656996-91659767	MCF-7	breast:	n/a	chr8:91658377-91658386 chr8:91658629-91658643 chr8:91658400-91658409
2	RCOR1	chr8:91657100-91660085	K562	blood:	n/a	n/a
3	EP300	chr8:91659383-91659837	K562	blood:	n/a	n/a
4	TBL1XR1	chr8:91659505-91659846	K562	blood:	n/a	n/a
5	POLR2A	chr8:91659479-91659785	MCF-7	breast:	n/a	n/a
6	GATA2	chr8:91658213-91659804	SH-SY5Y	brain:	n/a	chr8:91658721-91658735 chr8:91658392-91658401
7	POLR2A	chr8:91659545-91659837	K562	blood:	n/a	n/a
8	JUND	chr8:91657032-91659915	K562	blood:	n/a	chr8:91659801-91659812 chr8:91659799-91659808 chr8:91659728-91659739 chr8:91657083-91657095
9	TAL1	chr8:91657648-91659803	K562	blood:	n/a	n/a
10	MAX	chr8:91657019-91659845	MCF-7	breast:	n/a	chr8:91658375-91658385 chr8:91658472-91658481 chr8:91659350-91659358

No.	Distal block	Cell Line	Cell type
1	chr8:91011918..91015233-chr8:91657389..91660471,3	K562	blood:
2	chr8:91658689..91660219-chr8:91675153..91678111,2	K562	blood:
3	chr8:91658346..91660853-chr8:101963137..101965882,2	K562	blood:
4	chr8:90994579..90998162-chr8:91656500..91661270,5	K562	blood:
5	chr8:91658793..91660727-chr8:91811162..91813379,2	K562	blood:
6	chr8:91658730..91663792-chr8:91996044..91998781,4	K562	blood:
7	chr8:91656618..91662321-chr8:91871461..91875565,6	MCF-7	breast:

Variant related genes	Relation type
TMEM64	TF binding region
ENSG00000246792	TF binding region
ENSG00000164924	Chromatin interaction
ENSG00000254251	Chromatin interaction
ENSG00000253250	Chromatin interaction
ENSG00000104320	Chromatin interaction
ENSG00000104325	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10099433	0.88[AMR][1000 genomes]
rs10101451	0.89[AMR][1000 genomes]
rs28521858	0.83[AMR][1000 genomes]
rs28523907	0.89[AMR][1000 genomes]
rs28533479	0.89[AMR][1000 genomes]
rs28716641	0.89[AMR][1000 genomes]
rs73694518	0.89[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1827745	chr8:91623737-91660193	ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91658800-91659800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr8:91658800-91659800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr8:91658800-91660000	Flanking Active TSS	K562	blood
4	chr8:91659000-91659800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:91659000-91659800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:91659000-91659800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr8:91659000-91659800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr8:91659000-91659800	Enhancers	Placenta	Placenta
9	chr8:91659000-91659800	Enhancers	Gastric	stomach
10	chr8:91659000-91659800	Enhancers	Lung	lung
11	chr8:91659000-91660000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr8:91659000-91660600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr8:91659000-91661200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr8:91659000-91661200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr8:91659000-91661200	Weak transcription	NHEK	skin
16	chr8:91659000-91661600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr8:91659000-91661600	Weak transcription	Liver	Liver
18	chr8:91659200-91659800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr8:91659200-91659800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
20	chr8:91659200-91659800	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr8:91659200-91660000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr8:91659200-91660200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr8:91659200-91661400	Weak transcription	HMEC	breast
24	chr8:91659200-91661600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr8:91659200-91662000	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr8:91659200-91662200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr8:91659400-91659800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
28	chr8:91659400-91659800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
29	chr8:91659400-91659800	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr8:91659400-91659800	Bivalent Enhancer	HepG2	liver
31	chr8:91659400-91660000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr8:91659400-91660000	Enhancers	Fetal Heart	heart
33	chr8:91659400-91660200	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr8:91659400-91661400	Weak transcription	HUVEC	blood vessel
35	chr8:91659400-91661600	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr8:91659400-91662200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr8:91659400-91662800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr8:91659600-91659800	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr8:91659600-91659800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr8:91659600-91659800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
41	chr8:91659600-91660000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr8:91659600-91661800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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