Variant report

Variant	rs549962
Chromosome Location	chr8:103937608-103937609
allele	G/T
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	MAFK	chr8:103936851-103937902	IMR90	lung:	n/a	chr8:103937226-103937235 chr8:103937226-103937236
2	FOS	chr8:103937080-103937875	MCF10A-Er-Src	breast:	n/a	chr8:103937227-103937237 chr8:103937227-103937237 chr8:103937226-103937238 chr8:103937228-103937236 chr8:103937227-103937237
3	TBP	chr8:103937141-103937725	K562	blood:	n/a	n/a
4	SP1	chr8:103936993-103938010	A549	lung:	n/a	n/a
5	POLR2A	chr8:103937159-103937662	GM12892	blood:	n/a	n/a
6	POLR2A	chr8:103937364-103937687	K562	blood:	n/a	n/a
7	SMC3	chr8:103937558-103937613	GM12878	blood:	n/a	n/a
8	CUX1	chr8:103937004-103937644	K562	blood:	n/a	n/a
9	JUND	chr8:103936995-103937910	K562	blood:	n/a	chr8:103937227-103937237 chr8:103937227-103937237 chr8:103937226-103937238 chr8:103937228-103937236 chr8:103937227-103937237
10	NR2F2	chr8:103936961-103937980	K562	blood:	n/a	n/a
11	CCNT2	chr8:103937371-103937715	K562	blood:	n/a	n/a
12	HCFC1	chr8:103937376-103937831	K562	blood:	n/a	n/a
13	MAX	chr8:103937006-103938344	A549	lung:	n/a	n/a
14	EP300	chr8:103937076-103937777	Hela-S3	cervix:	n/a	chr8:103937652-103937666
15	FOS	chr8:103937022-103937899	MCF10A-Er-Src	breast:	n/a	chr8:103937227-103937237 chr8:103937227-103937237 chr8:103937226-103937238 chr8:103937228-103937236 chr8:103937227-103937237
16	TCF12	chr8:103936919-103938097	A549	lung:	n/a	n/a
17	RCOR1	chr8:103936891-103937788	K562	blood:	n/a	n/a
18	MAFF	chr8:103936979-103937799	K562	blood:	n/a	n/a
19	EP300	chr8:103936959-103937937	K562	blood:	n/a	chr8:103937652-103937666
20	ZMIZ1	chr8:103937126-103937773	K562	blood:	n/a	n/a
21	TBP	chr8:103937040-103937734	GM12878	blood:	n/a	n/a
22	GATA1	chr8:103937033-103937819	PBDE	blood:	n/a	n/a
23	EBF1	chr8:103937115-103937611	GM12878	blood:	n/a	n/a
24	MAX	chr8:103936882-103938358	A549	lung:	n/a	n/a
25	RELA	chr8:103936918-103937645	GM12891	blood:	n/a	n/a
26	MYC	chr8:103937576-103938056	K562	blood:	n/a	n/a
27	SP1	chr8:103937028-103937876	A549	lung:	n/a	n/a
28	CBX3	chr8:103936891-103937738	K562	blood:	n/a	chr8:103936916-103936927
29	ARID3A	chr8:103936915-103937705	K562	blood:	n/a	n/a
30	PML	chr8:103936914-103937705	GM12878	blood:	n/a	chr8:103937614-103937622
31	FOSL2	chr8:103936877-103938006	A549	lung:	n/a	chr8:103937227-103937237 chr8:103937227-103937237 chr8:103937226-103937238 chr8:103937228-103937236 chr8:103937227-103937237

No.	Distal block	Cell Line	Cell type
1	chr8:103936608..103938218-chr8:104032062..104033919,2	MCF-7	breast:
2	chr8:103876310..103878750-chr8:103935739..103937868,3	MCF-7	breast:
3	chr8:103937164..103938846-chr8:103972423..103974367,2	MCF-7	breast:
4	chr8:103875112..103878223-chr8:103936319..103939684,4	K562	blood:
5	chr8:103874816..103877664-chr8:103936329..103938732,4	MCF-7	breast:
6	chr8:103936331..103939322-chr8:103948640..103950158,2	K562	blood:

Variant related genes	Relation type
ENSG00000253320	TF binding region
RPL5P24	TF binding region
ENSG00000155097	Chromatin interaction
ENSG00000155096	Chromatin interaction
ENSG00000253320	Chromatin interaction
ENSG00000265898	Chromatin interaction
ENSG00000254236	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2668880	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs650884	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv891246	chr8:103928940-103967694	Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103927800-103939800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr8:103927800-103941600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:103930000-103938000	Weak transcription	Gastric	stomach
4	chr8:103931800-103941600	Weak transcription	Fetal Kidney	kidney
5	chr8:103932000-103939400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr8:103932200-103959400	Weak transcription	Fetal Brain Female	brain
7	chr8:103932400-103939800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr8:103932800-103938800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr8:103932800-103939400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr8:103932800-103939600	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr8:103933000-103939800	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr8:103933400-103940000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr8:103934800-103941400	Weak transcription	Liver	Liver
14	chr8:103935800-103938200	Enhancers	Fetal Lung	lung
15	chr8:103936000-103938200	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr8:103936200-103938200	Enhancers	Fetal Stomach	stomach
17	chr8:103936200-103938800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr8:103936400-103938200	Enhancers	NHDF-Ad	bronchial
19	chr8:103936800-103937800	Enhancers	NHEK	skin
20	chr8:103936800-103938200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr8:103936800-103938200	Enhancers	HMEC	breast
22	chr8:103937000-103937800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr8:103937000-103937800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
24	chr8:103937000-103937800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr8:103937000-103937800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr8:103937000-103937800	Enhancers	Colon Smooth Muscle	Colon
27	chr8:103937000-103938000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr8:103937000-103938000	Flanking Active TSS	Osteobl	bone
29	chr8:103937000-103938200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr8:103937000-103938200	Enhancers	Aorta	Aorta
31	chr8:103937000-103938200	Flanking Active TSS	A549	lung
32	chr8:103937000-103938200	Enhancers	HSMM	muscle
33	chr8:103937000-103938200	Flanking Active TSS	K562	blood
34	chr8:103937000-103938400	Enhancers	Fetal Intestine Large	intestine
35	chr8:103937000-103938600	Enhancers	Fetal Intestine Small	intestine
36	chr8:103937200-103937800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr8:103937200-103937800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr8:103937200-103937800	Enhancers	Brain Hippocampus Middle	brain
39	chr8:103937200-103937800	Flanking Active TSS	Ovary	ovary
40	chr8:103937200-103937800	Flanking Active TSS	NH-A	brain
41	chr8:103937200-103938000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr8:103937200-103938000	Enhancers	Stomach Mucosa	stomach
43	chr8:103937200-103938000	Flanking Active TSS	GM12878-XiMat	blood
44	chr8:103937200-103938200	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr8:103937200-103938200	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr8:103937200-103938200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr8:103937200-103938200	Enhancers	Sigmoid Colon	Sigmoid Colon
48	chr8:103937200-103938600	Enhancers	Small Intestine	intestine
49	chr8:103937400-103937800	Enhancers	HUVEC	blood vessel
50	chr8:103937400-103938000	Enhancers	Placenta Amnion	Placenta Amnion

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