Variant report

Variant	rs574681455
Chromosome Location	chr8:11144695-11144696
allele	C/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	NFYB	chr8:11144605-11144770	Hela-S3	cervix:	n/a	n/a
2	FOXA1	chr8:11144637-11144942	T-47D	breast:	n/a	n/a
3	GATA3	chr8:11144258-11144704	T-47D	breast:	n/a	n/a
4	JUND	chr8:11144203-11144798	T-47D	breast:	n/a	n/a
5	FOXA1	chr8:11144196-11144977	T-47D	breast:	n/a	n/a
6	GATA3	chr8:11144280-11144711	T-47D	breast:	n/a	n/a
7	EP300	chr8:11144264-11144706	T-47D	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:11142870..11145744-chr8:11152405..11154351,2	K562	blood:
2	chr8:11141122..11144782-chr8:11147545..11153235,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000249316	TF binding region
ENSG00000104643	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035072	chr8:10819444-11480692	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv539473	chr8:10819444-11480692	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv831233	chr8:11046854-11234384	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv1022525	chr8:11066191-11309356	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv539474	chr8:11066191-11309356	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv1033312	chr8:11126800-11252170	Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
8	esv3448910	chr8:11144417-11146865	Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11142800-11145000	Enhancers	Small Intestine	intestine
2	chr8:11143000-11145000	Enhancers	Spleen	Spleen
3	chr8:11143000-11145200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr8:11143000-11145200	Enhancers	Sigmoid Colon	Sigmoid Colon
5	chr8:11143000-11146000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr8:11143000-11146000	Weak transcription	Lung	lung
7	chr8:11143000-11146200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:11143000-11149400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr8:11143000-11162200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr8:11143000-11166400	Weak transcription	Esophagus	oesophagus
11	chr8:11143000-11166400	Weak transcription	Pancreas	Pancrea
12	chr8:11143200-11145200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr8:11143400-11144800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr8:11143400-11144800	Enhancers	Liver	Liver
15	chr8:11143400-11144800	Active TSS	Rectal Smooth Muscle	rectum
16	chr8:11143400-11145000	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr8:11143400-11145000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr8:11143400-11145000	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr8:11143400-11145000	Enhancers	Brain Germinal Matrix	brain
20	chr8:11143400-11146000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr8:11143400-11146000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr8:11143400-11146000	Weak transcription	Fetal Intestine Small	intestine
23	chr8:11143400-11146000	Weak transcription	Gastric	stomach
24	chr8:11143400-11146000	Weak transcription	NH-A	brain
25	chr8:11143400-11146200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr8:11143400-11146600	Weak transcription	HUVEC	blood vessel
27	chr8:11143400-11147000	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr8:11143400-11147000	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr8:11143400-11147000	Weak transcription	Brain Substantia Nigra	brain
30	chr8:11143400-11150200	Weak transcription	Osteobl	bone
31	chr8:11143400-11152800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr8:11143400-11153000	Weak transcription	NHLF	lung
33	chr8:11143400-11153200	Weak transcription	Fetal Thymus	thymus
34	chr8:11143400-11154000	Weak transcription	Psoas Muscle	Psoas
35	chr8:11143400-11163600	Weak transcription	Brain Angular Gyrus	brain
36	chr8:11143400-11166400	Weak transcription	HSMMtube	muscle
37	chr8:11143600-11146000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr8:11143800-11144800	Weak transcription	Right Atrium	heart
39	chr8:11143800-11145000	Enhancers	Stomach Mucosa	stomach
40	chr8:11143800-11145800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr8:11143800-11149200	Weak transcription	K562	blood
42	chr8:11143800-11149400	Weak transcription	Aorta	Aorta
43	chr8:11143800-11153200	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr8:11143800-11169000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr8:11144000-11144800	Enhancers	Muscle Satellite Cultured Cells	--
46	chr8:11144000-11144800	Weak transcription	Thymus	Thymus
47	chr8:11144000-11145000	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr8:11144000-11145000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
49	chr8:11144000-11145000	Enhancers	Brain Anterior Caudate	brain
50	chr8:11144000-11145000	Enhancers	HepG2	liver

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