Variant report

Variant	rs548564
Chromosome Location	chr8:102585806-102585807
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:102584672..102587092-chr8:102594880..102596520,2	MCF-7	breast:
2	chr8:102585772..102587387-chr8:102587401..102588904,2	MCF-7	breast:
3	chr8:102567759..102570730-chr8:102585094..102586847,2	MCF-7	breast:
4	chr8:102584397..102586462-chr8:102595922..102598854,2	MCF-7	breast:
5	chr8:102584389..102586925-chr8:102611656..102613755,2	MCF-7	breast:
6	chr8:102502163..102508014-chr8:102585350..102588773,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000083307	Chromatin interaction
ENSG00000254024	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11787301	0.86[EUR][1000 genomes]
rs1474412	0.93[CEU][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2507796	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2509767	0.91[CHB][hapmap];0.80[CHD][hapmap];0.81[GIH][hapmap];0.90[JPT][hapmap];0.86[ASN][1000 genomes]
rs529323	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs547820	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs608799	0.91[CHB][hapmap];0.90[JPT][hapmap];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs612357	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[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	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	nsv891230	chr8:102569309-102604306	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:102552200-102620600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:102571000-102589600	Weak transcription	Gastric	stomach
3	chr8:102576000-102589600	Weak transcription	HMEC	breast
4	chr8:102582200-102592400	Strong transcription	HUES48 Cell Line	embryonic stem cell
5	chr8:102583200-102586000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr8:102583400-102586400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr8:102583400-102586400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr8:102583400-102586800	Weak transcription	Lung	lung
9	chr8:102583400-102588200	Weak transcription	Ovary	ovary
10	chr8:102583800-102596800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr8:102584000-102586200	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr8:102584000-102586200	Enhancers	Hela-S3	cervix
13	chr8:102584000-102586600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr8:102584200-102586000	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr8:102584200-102586600	Weak transcription	Esophagus	oesophagus
16	chr8:102585000-102588800	Enhancers	Fetal Intestine Large	intestine
17	chr8:102585200-102586000	Enhancers	Duodenum Mucosa	Duodenum
18	chr8:102585200-102586200	Enhancers	Colonic Mucosa	Colon
19	chr8:102585200-102586400	Strong transcription	Placenta	Placenta
20	chr8:102585200-102586400	Enhancers	HepG2	liver
21	chr8:102585200-102587200	Enhancers	Small Intestine	intestine
22	chr8:102585200-102588000	Enhancers	Fetal Intestine Small	intestine
23	chr8:102585200-102590400	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr8:102585600-102586400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr8:102585600-102586600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr8:102585600-102587000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr8:102585600-102587200	Strong transcription	H1 Cell Line	embryonic stem cell
28	chr8:102585600-102587200	Enhancers	Fetal Lung	lung
29	chr8:102585600-102587400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
30	chr8:102585600-102587400	Enhancers	Fetal Muscle Leg	muscle
31	chr8:102585600-102587400	Enhancers	Pancreas	Pancrea
32	chr8:102585600-102589000	Enhancers	A549	lung
33	chr8:102585600-102595800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr8:102585800-102586000	Enhancers	K562	blood
35	chr8:102585800-102586200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr8:102585800-102586600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr8:102585800-102586600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr8:102585800-102587000	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr8:102585800-102587000	Enhancers	Fetal Stomach	stomach
40	chr8:102585800-102587000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
41	chr8:102585800-102587000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
42	chr8:102585800-102587400	Strong transcription	H9 Cell Line	embryonic stem cell
43	chr8:102585800-102587400	Enhancers	Colon Smooth Muscle	Colon
44	chr8:102585800-102587600	Enhancers	Fetal Brain Male	brain
45	chr8:102585800-102589000	Enhancers	Fetal Heart	heart
46	chr8:102585800-102589000	Enhancers	Stomach Mucosa	stomach
47	chr8:102585800-102589000	Genic enhancers	NHEK	skin
48	chr8:102585800-102592200	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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