Variant report

Variant	rs57399568
Chromosome Location	chr8:118959234-118959235
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:118954460..118956663-chr8:118958753..118960778,2	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs17453427	1.00[AFR][1000 genomes]
rs56844743	0.83[AFR][1000 genomes]
rs60553718	0.83[AFR][1000 genomes]
rs61016956	1.00[AFR][1000 genomes]
rs73323905	0.83[AFR][1000 genomes]
rs73323906	0.83[AFR][1000 genomes]
rs73323916	1.00[AFR][1000 genomes]
rs73323935	1.00[AFR][1000 genomes]
rs73323942	1.00[AFR][1000 genomes]
rs73323945	1.00[AFR][1000 genomes]
rs73323948	1.00[AFR][1000 genomes]
rs73323954	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933516	chr8:118764605-119009093	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv1030459	chr8:118840179-119155835	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv831440	chr8:118871930-119052269	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1032355	chr8:118896733-119003223	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv465785	chr8:118901928-118970300	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv612046	chr8:118901928-118970300	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv612047	chr8:118939094-119468609	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv1015380	chr8:118948652-119418389	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
9	nsv539736	chr8:118948652-119418389	Flanking Active TSS Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118947400-118960600	Weak transcription	Right Ventricle	heart
2	chr8:118950400-118960200	Weak transcription	Psoas Muscle	Psoas
3	chr8:118950600-118960600	Weak transcription	Ovary	ovary
4	chr8:118953200-118960000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr8:118953800-118959400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr8:118953800-118959800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr8:118954000-118959600	Weak transcription	HSMM	muscle
8	chr8:118954400-118959600	Weak transcription	NHLF	lung
9	chr8:118954400-118959800	Weak transcription	HUVEC	blood vessel
10	chr8:118954600-118959600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr8:118954600-118959800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr8:118954800-118962200	Weak transcription	Right Atrium	heart
13	chr8:118956600-118968000	Weak transcription	Placenta	Placenta
14	chr8:118956800-118959400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr8:118957800-118961200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr8:118958000-118963400	Weak transcription	Rectal Smooth Muscle	rectum
17	chr8:118958200-118959800	Enhancers	Fetal Muscle Leg	muscle
18	chr8:118958400-118959600	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr8:118958400-118960200	Enhancers	Stomach Mucosa	stomach
20	chr8:118958400-118960200	Flanking Active TSS	NHEK	skin
21	chr8:118958400-118961200	Enhancers	Fetal Lung	lung
22	chr8:118958600-118959400	Flanking Active TSS	NHDF-Ad	bronchial
23	chr8:118958600-118959600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr8:118958600-118960200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr8:118958600-118960200	Flanking Active TSS	Liver	Liver
26	chr8:118958600-118960400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr8:118958600-118960600	Enhancers	Brain Germinal Matrix	brain
28	chr8:118958600-118961000	Enhancers	Fetal Heart	heart
29	chr8:118958600-118962000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr8:118958800-118959400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr8:118958800-118959400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
32	chr8:118958800-118959600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr8:118958800-118959600	Active TSS	Duodenum Mucosa	Duodenum
34	chr8:118958800-118959600	Enhancers	Small Intestine	intestine
35	chr8:118958800-118959800	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr8:118958800-118960000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr8:118958800-118960000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr8:118958800-118960200	Flanking Active TSS	HMEC	breast
39	chr8:118958800-118960600	Enhancers	Colonic Mucosa	Colon
40	chr8:118958800-118960800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr8:118958800-118961000	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr8:118959000-118959400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr8:118959000-118959400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr8:118959000-118959400	Flanking Active TSS	Fetal Intestine Small	intestine
45	chr8:118959000-118960000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr8:118959000-118960000	Enhancers	Adipose Nuclei	Adipose
47	chr8:118959000-118960600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr8:118959000-118960800	Enhancers	Colon Smooth Muscle	Colon
49	chr8:118959000-118961200	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr8:118959000-118961400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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