Variant report

Variant	rs16893083
Chromosome Location	chr8:125685977-125685978
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	MEF2A	chr8:125685592-125686000	GM12878	blood:	n/a	chr8:125685813-125685827 chr8:125685811-125685832 chr8:125685811-125685832 chr8:125685811-125685832 chr8:125685814-125685825 chr8:125685812-125685827
2	MEF2A	chr8:125685579-125686055	K562	blood:	n/a	chr8:125685813-125685827 chr8:125685811-125685832 chr8:125685811-125685832 chr8:125685811-125685832 chr8:125685814-125685825 chr8:125685812-125685827
3	JUN	chr8:125685582-125686243	K562	blood:	n/a	n/a
4	MEF2A	chr8:125685646-125686015	K562	blood:	n/a	chr8:125685813-125685827 chr8:125685811-125685832 chr8:125685811-125685832 chr8:125685811-125685832 chr8:125685814-125685825 chr8:125685812-125685827
5	ATF2	chr8:125685580-125686052	GM12878	blood:	n/a	n/a
6	MEF2C	chr8:125685536-125686021	GM12878	blood:	n/a	chr8:125685813-125685827 chr8:125685811-125685832 chr8:125685811-125685832 chr8:125685811-125685832 chr8:125685814-125685825 chr8:125685813-125685828
7	CBX3	chr8:125685627-125685997	K562	blood:	n/a	n/a
8	JUN	chr8:125685648-125686033	K562	blood:	n/a	n/a
9	ATF1	chr8:125685677-125686000	K562	blood:	n/a	n/a
10	KAP1	chr8:125685685-125685977	U2OS	brain:	n/a	n/a
11	KAP1	chr8:125685764-125686106	HEK293	kidney:	n/a	n/a
12	BHLHE40	chr8:125685714-125686029	K562	blood:	n/a	n/a
13	JUND	chr8:125685638-125686016	K562	blood:	n/a	n/a
14	JUN	chr8:125685661-125686037	K562	blood:	n/a	n/a
15	ATF2	chr8:125685564-125686080	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:125673889..125676093-chr8:125685869..125687968,2	MCF-7	breast:
2	chr8:125685948..125687949-chr8:125826309..125828917,3	K562	blood:
3	chr8:125680861..125685703-chr8:125685975..125688840,5	MCF-7	breast:

Variant related genes	Relation type
MTSS1	TF binding region
ENSG00000255491	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs13260195	0.81[ASN][1000 genomes]
rs13279648	0.83[ASN][1000 genomes]
rs16899959	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35566676	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs71516753	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs71516754	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[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	nsv1027585	chr8:125627924-125707738	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
2	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
3	nsv1016502	chr8:125657664-125845074	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125673000-125699000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr8:125676200-125699200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:125678400-125688800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr8:125678800-125686000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr8:125680800-125686000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr8:125680800-125686400	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr8:125680800-125686600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr8:125681200-125686000	Weak transcription	Esophagus	oesophagus
9	chr8:125681200-125687000	Enhancers	Primary B cells from cord blood	blood
10	chr8:125681200-125687800	Enhancers	Fetal Heart	heart
11	chr8:125681200-125701000	Weak transcription	HMEC	breast
12	chr8:125681800-125687400	Enhancers	Psoas Muscle	Psoas
13	chr8:125682000-125686200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr8:125682400-125686400	Enhancers	NHDF-Ad	bronchial
15	chr8:125683800-125686000	Weak transcription	Lung	lung
16	chr8:125684200-125687600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr8:125684400-125686800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr8:125684600-125687600	Enhancers	Fetal Thymus	thymus
19	chr8:125684600-125687800	Enhancers	Spleen	Spleen
20	chr8:125684800-125686200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr8:125684800-125687000	Enhancers	Fetal Brain Male	brain
22	chr8:125684800-125687000	Enhancers	Fetal Muscle Leg	muscle
23	chr8:125685000-125686000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr8:125685000-125686200	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr8:125685000-125686200	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr8:125685000-125686200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr8:125685000-125686200	Flanking Active TSS	Adipose Nuclei	Adipose
28	chr8:125685000-125686200	Enhancers	Liver	Liver
29	chr8:125685000-125686200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr8:125685000-125686200	Enhancers	Colon Smooth Muscle	Colon
31	chr8:125685000-125686200	Enhancers	Fetal Lung	lung
32	chr8:125685000-125686200	Enhancers	Rectal Smooth Muscle	rectum
33	chr8:125685000-125686200	Enhancers	Sigmoid Colon	Sigmoid Colon
34	chr8:125685000-125686400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr8:125685000-125686400	Enhancers	Primary T cells from cord blood	blood
36	chr8:125685000-125686400	Enhancers	Primary T cells fromperipheralblood	blood
37	chr8:125685000-125686400	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr8:125685000-125686400	Enhancers	Colonic Mucosa	Colon
39	chr8:125685000-125686400	Enhancers	Duodenum Smooth Muscle	Duodenum
40	chr8:125685000-125686400	Enhancers	Fetal Stomach	stomach
41	chr8:125685000-125686400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
42	chr8:125685000-125686400	Enhancers	NHLF	lung
43	chr8:125685000-125686800	Enhancers	Brain Germinal Matrix	brain
44	chr8:125685000-125686800	Enhancers	Fetal Brain Female	brain
45	chr8:125685000-125686800	Enhancers	Placenta	Placenta
46	chr8:125685000-125686800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
47	chr8:125685000-125687000	Enhancers	Right Ventricle	heart
48	chr8:125685000-125687400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr8:125685000-125687600	Enhancers	Left Ventricle	heart
50	chr8:125685000-125687600	Enhancers	Thymus	Thymus

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