Variant report

Variant	rs72954674
Chromosome Location	chr3:113668188-113668189
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	MAFF	chr3:113667936-113668242	HepG2	liver:	n/a	n/a
2	MAFK	chr3:113667949-113668275	HepG2	liver:	n/a	chr3:113668174-113668185
3	MAFK	chr3:113667933-113668251	HepG2	liver:	n/a	chr3:113668174-113668185
4	MAFK	chr3:113667960-113668262	IMR90	lung:	n/a	chr3:113668174-113668185

No.	Distal block	Cell Line	Cell type
1	chr3:113665870..113669874-chr3:113673727..113678562,5	MCF-7	breast:
2	chr3:113650809..113653734-chr3:113664871..113668663,3	MCF-7	breast:
3	chr3:113666438..113668276-chr3:113676676..113680179,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000273394	TF binding region
ENSG00000184307	Chromatin interaction
ENSG00000178075	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10804511	1.00[AMR][1000 genomes]
rs2566981	1.00[AMR][1000 genomes]
rs2566984	1.00[AMR][1000 genomes]
rs2566985	1.00[AMR][1000 genomes]
rs4359785	1.00[AMR][1000 genomes]
rs59292926	1.00[AMR][1000 genomes]
rs60238096	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6781200	1.00[AMR][1000 genomes]
rs6799923	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6800121	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72952678	1.00[AMR][1000 genomes]
rs72952679	1.00[AMR][1000 genomes]
rs72952680	1.00[AMR][1000 genomes]
rs72952687	1.00[AMR][1000 genomes]
rs72954664	1.00[AMR][1000 genomes]
rs72954670	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72954676	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72954680	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72954688	1.00[AMR][1000 genomes]
rs7628645	1.00[AMR][1000 genomes]
rs7646432	1.00[AMR][1000 genomes]
rs7650388	1.00[AMR][1000 genomes]
rs7650416	0.86[AFR][1000 genomes];1.00[AMR][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	nsv1013506	chr3:112890608-113680951	Weak transcription Bivalent/Poised TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	esv1834273	chr3:113666511-113673125	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:113665800-113668200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
2	chr3:113666000-113668400	Active TSS	Rectal Smooth Muscle	rectum
3	chr3:113666000-113669000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr3:113666400-113668400	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr3:113667200-113668200	Flanking Active TSS	Duodenum Mucosa	Duodenum
6	chr3:113667400-113668200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
7	chr3:113667400-113668200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
8	chr3:113667600-113668400	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr3:113667600-113670200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr3:113667600-113695800	Weak transcription	Left Ventricle	heart
11	chr3:113667800-113668200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
12	chr3:113667800-113668200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr3:113667800-113668200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr3:113667800-113668200	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr3:113667800-113668200	Active TSS	Brain Hippocampus Middle	brain
16	chr3:113667800-113668200	Active TSS	Stomach Smooth Muscle	stomach
17	chr3:113667800-113668400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr3:113667800-113668600	Enhancers	Liver	Liver
19	chr3:113667800-113669000	Enhancers	Pancreas	Pancrea
20	chr3:113667800-113672400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr3:113667800-113672400	Weak transcription	HMEC	breast
22	chr3:113667800-113672600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr3:113667800-113672600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr3:113667800-113672600	Weak transcription	Aorta	Aorta
25	chr3:113667800-113672600	Weak transcription	Lung	lung
26	chr3:113667800-113672600	Weak transcription	Thymus	Thymus
27	chr3:113667800-113672600	Weak transcription	Spleen	Spleen
28	chr3:113667800-113679600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr3:113667800-113683000	Weak transcription	Small Intestine	intestine
30	chr3:113667800-113683400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr3:113667800-113685000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr3:113667800-113685200	Weak transcription	A549	lung
33	chr3:113667800-113696800	Weak transcription	Right Ventricle	heart
34	chr3:113667800-113710800	Weak transcription	Esophagus	oesophagus
35	chr3:113668000-113668200	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr3:113668000-113668200	Enhancers	Brain Cingulate Gyrus	brain
37	chr3:113668000-113668200	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chr3:113668000-113668200	Enhancers	Dnd41	blood
39	chr3:113668000-113668400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
40	chr3:113668000-113668400	Enhancers	Breast Myoepithelial Primary Cells	Breast
41	chr3:113668000-113668400	Enhancers	Primary B cells from cord blood	blood
42	chr3:113668000-113668400	Enhancers	Primary B cells from peripheral blood	blood
43	chr3:113668000-113668400	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr3:113668000-113668400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr3:113668000-113668400	Active TSS	Brain Angular Gyrus	brain
46	chr3:113668000-113668400	Enhancers	Fetal Intestine Large	intestine
47	chr3:113668000-113669000	Active TSS	Brain Anterior Caudate	brain
48	chr3:113668000-113671400	Weak transcription	Fetal Intestine Small	intestine
49	chr3:113668000-113672200	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr3:113668000-113672400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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