Variant report

Variant	rs8016537
Chromosome Location	chr14:69447386-69447387
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	E2F6	chr14:69446596-69447567	H1-hESC	embryonic stem cell:	n/a	chr14:69446689-69446701 chr14:69447064-69447076
2	MXI1	chr14:69441660-69447416	IMR90	lung:	n/a	n/a
3	CHD1	chr14:69441180-69450261	IMR90	lung:	n/a	chr14:69446695-69446705
4	MAX	chr14:69446593-69447414	MCF-7	breast:	n/a	n/a
5	MAX	chr14:69446593-69447388	H1-hESC	embryonic stem cell:	n/a	n/a
6	MAX	chr14:69444349-69447398	ECC-1	luminal epithelium:	n/a	chr14:69446258-69446267 chr14:69446222-69446232 chr14:69444518-69444528 chr14:69445035-69445045 chr14:69445545-69445555 chr14:69446056-69446066 chr14:69445647-69445657 chr14:69446420-69446430
7	MAX	chr14:69446598-69447457	ECC-1	luminal epithelium:	n/a	n/a
8	MAX	chr14:69444325-69447439	A549	lung:	n/a	chr14:69446258-69446267 chr14:69446222-69446232 chr14:69444518-69444528 chr14:69445035-69445045 chr14:69445545-69445555 chr14:69446056-69446066 chr14:69445647-69445657 chr14:69446420-69446430
9	E2F6	chr14:69446578-69447421	H1-hESC	embryonic stem cell:	n/a	chr14:69446689-69446701 chr14:69447064-69447076
10	HCFC1	chr14:69443969-69447466	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr14:69444396-69447469	ECC-1	luminal epithelium:	n/a	n/a
12	POLR2A	chr14:69441290-69449923	IMR90	lung:	n/a	n/a
13	POLR2A	chr14:69442232-69447465	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:69260551..69262457-chr14:69445515..69448155,2	MCF-7	breast:
2	chr14:69403117..69416483-chr14:69441657..69449888,50	MCF-7	breast:
3	chr14:69402982..69422523-chr14:69436263..69448017,46	MCF-7	breast:
4	chr14:69445219..69447444-chr3:183352751..183354827,2	MCF-7	breast:
5	chr14:69446981..69449965-chr14:69456787..69458702,2	K562	blood:

Variant related genes	Relation type
ACTN1	TF binding region
ENSG00000072110	Chromatin interaction
ENSG00000185650	Chromatin interaction
ENSG00000114796	Chromatin interaction
ENSG00000258531	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1007407	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10137547	0.87[ASN][1000 genomes]
rs10147976	0.87[ASN][1000 genomes]
rs1983700	0.80[ASN][1000 genomes]
rs2012750	0.87[ASN][1000 genomes]
rs2012764	0.87[ASN][1000 genomes]
rs2012785	0.87[ASN][1000 genomes]
rs2300875	0.87[ASN][1000 genomes]
rs28561965	0.87[ASN][1000 genomes]
rs4243632	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7140680	0.83[EUR][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	nsv832823	chr14:69388853-69567638	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	esv3449858	chr14:69443549-69447697	Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69443800-69447400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr14:69444200-69447400	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr14:69444400-69447400	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr14:69444600-69447400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr14:69446600-69447400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
6	chr14:69446600-69447400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr14:69446600-69447400	Flanking Active TSS	NH-A	brain
8	chr14:69446600-69448000	Weak transcription	Spleen	Spleen
9	chr14:69446800-69447400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr14:69446800-69447400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr14:69446800-69447400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr14:69446800-69447400	Flanking Active TSS	A549	lung
13	chr14:69446800-69447400	Flanking Active TSS	Hela-S3	cervix
14	chr14:69446800-69447400	Flanking Active TSS	HepG2	liver
15	chr14:69446800-69447400	Flanking Active TSS	HSMM	muscle
16	chr14:69446800-69447400	Flanking Active TSS	NHEK	skin
17	chr14:69446800-69447400	Flanking Active TSS	Osteobl	bone
18	chr14:69446800-69447600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr14:69446800-69447600	Enhancers	Fetal Heart	heart
20	chr14:69446800-69448600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr14:69447000-69447400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr14:69447000-69447400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr14:69447000-69447400	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr14:69447000-69447400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr14:69447000-69447400	Enhancers	Liver	Liver
26	chr14:69447000-69447400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr14:69447000-69447400	Enhancers	Left Ventricle	heart
28	chr14:69447000-69447400	Enhancers	Pancreas	Pancrea
29	chr14:69447000-69447400	Flanking Active TSS	Stomach Smooth Muscle	stomach
30	chr14:69447000-69447400	Flanking Active TSS	HMEC	breast
31	chr14:69447000-69447400	Flanking Active TSS	HSMMtube	muscle
32	chr14:69447000-69447600	Enhancers	Colonic Mucosa	Colon
33	chr14:69447000-69447600	Enhancers	Fetal Brain Male	brain
34	chr14:69447000-69447600	Bivalent Enhancer	Fetal Muscle Leg	muscle
35	chr14:69447000-69447800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr14:69447000-69448000	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr14:69447000-69448000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr14:69447000-69448200	Enhancers	Primary T cells fromperipheralblood	blood
39	chr14:69447000-69448200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr14:69447000-69448200	Weak transcription	Fetal Kidney	kidney
41	chr14:69447000-69448200	Weak transcription	Small Intestine	intestine
42	chr14:69447000-69448200	Enhancers	HUVEC	blood vessel
43	chr14:69447000-69448600	Weak transcription	Ovary	ovary
44	chr14:69447000-69448800	Enhancers	Placenta Amnion	Placenta Amnion
45	chr14:69447000-69448800	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr14:69447000-69449200	Enhancers	Lung	lung
47	chr14:69447000-69471400	Weak transcription	Esophagus	oesophagus
48	chr14:69447200-69447400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr14:69447200-69447400	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr14:69447200-69447400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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