Variant report

Variant	rs7160664
Chromosome Location	chr14:39903074-39903075
allele	A/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	STAT3	chr14:39902919-39903089	MCF10A-Er-Src	breast:	n/a	n/a
2	MBD4	chr14:39901240-39903267	HepG2	liver:	n/a	n/a
3	MYBL2	chr14:39901117-39903114	HepG2	liver:	n/a	n/a
4	CHD1	chr14:39900053-39903161	IMR90	lung:	n/a	n/a
5	POLR2A	chr14:39900402-39903174	GM12878	blood:	n/a	n/a
6	POLR2A	chr14:39899889-39903076	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr14:39900018-39903209	GM12891	blood:	n/a	n/a
8	POLR2A	chr14:39900584-39903973	MCF10A-Er-Src	breast:	n/a	n/a
9	SREBP1	chr14:39901045-39904492	GM12878	blood:	n/a	chr14:39901741-39901751 chr14:39903823-39903837
10	POLR2A	chr14:39900671-39903097	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:39638023..39641762-chr14:39900094..39905872,5	MCF-7	breast:
2	chr14:39903003..39906043-chr14:39907787..39910140,3	MCF-7	breast:
3	chr14:39572264..39573816-chr14:39900834..39903460,2	MCF-7	breast:

Variant related genes	Relation type
FBXO33	TF binding region
ENSG00000258651	Chromatin interaction
ENSG00000182400	Chromatin interaction
ENSG00000100934	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10143351	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10145949	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12883652	0.87[AFR][1000 genomes]
rs1955703	0.86[ASN][1000 genomes]
rs2038278	0.85[AFR][1000 genomes]
rs2415545	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6571932	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7142748	0.85[ASN][1000 genomes]
rs7148377	0.85[AFR][1000 genomes]
rs718364	0.87[AFR][1000 genomes]
rs8006893	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8011173	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8012768	0.86[ASN][1000 genomes]
rs8019328	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1037183	chr14:39736939-39949233	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv542048	chr14:39736939-39949233	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	esv3523177	chr14:39875036-40128325	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	esv3523178	chr14:39875036-40128325	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
5	nsv832774	chr14:39897746-40060823	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
6	esv3428481	chr14:39900201-39903099	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39899000-39903200	Active TSS	Aorta	Aorta
2	chr14:39899000-39903200	Active TSS	Ovary	ovary
3	chr14:39899200-39903200	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr14:39899200-39903200	Active TSS	NHLF	lung
5	chr14:39899400-39903200	Active TSS	Right Ventricle	heart
6	chr14:39899800-39903200	Active TSS	H1 Cell Line	embryonic stem cell
7	chr14:39899800-39903200	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr14:39899800-39903200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr14:39899800-39903200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr14:39899800-39903200	Active TSS	Stomach Mucosa	stomach
11	chr14:39899800-39903200	Active TSS	HSMM	muscle
12	chr14:39899800-39903400	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr14:39900000-39903200	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr14:39900000-39903200	Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr14:39900000-39903200	Active TSS	Fetal Stomach	stomach
16	chr14:39900200-39903200	Active TSS	H9 Cell Line	embryonic stem cell
17	chr14:39900200-39903200	Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr14:39900200-39903200	Active TSS	Pancreas	Pancrea
19	chr14:39900400-39903200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr14:39900400-39903200	Active TSS	Fetal Lung	lung
21	chr14:39900400-39903200	Active TSS	NH-A	brain
22	chr14:39900800-39903200	Active TSS	Fetal Muscle Leg	muscle
23	chr14:39900800-39903200	Active TSS	Skeletal Muscle Male	skeletal muscle
24	chr14:39901200-39903200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr14:39902000-39903200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr14:39902000-39903200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
27	chr14:39902200-39903200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
28	chr14:39902200-39903200	Flanking Active TSS	Dnd41	blood
29	chr14:39902200-39903200	Flanking Active TSS	Osteobl	bone
30	chr14:39902400-39903200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr14:39902400-39903200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
32	chr14:39902400-39903200	Flanking Active TSS	Duodenum Mucosa	Duodenum
33	chr14:39902400-39910200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr14:39902400-39911400	Weak transcription	Gastric	stomach
35	chr14:39902600-39903200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr14:39902600-39903200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
37	chr14:39902600-39903200	Flanking Active TSS	Liver	Liver
38	chr14:39902600-39903200	Enhancers	Small Intestine	intestine
39	chr14:39902600-39903200	Flanking Active TSS	Stomach Smooth Muscle	stomach
40	chr14:39902600-39903200	Flanking Active TSS	A549	lung
41	chr14:39902600-39903200	Flanking Active TSS	NHEK	skin
42	chr14:39902800-39903200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr14:39902800-39903200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
44	chr14:39902800-39903200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr14:39902800-39903200	Enhancers	Primary neutrophils fromperipheralblood	blood
46	chr14:39902800-39903200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr14:39902800-39903200	Flanking Active TSS	Brain Angular Gyrus	brain
48	chr14:39902800-39903200	Enhancers	Brain Substantia Nigra	brain
49	chr14:39902800-39903200	Flanking Active TSS	Colon Smooth Muscle	Colon
50	chr14:39902800-39903200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland

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