Variant report

Variant	rs45545942
Chromosome Location	chr14:65009226-65009227
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:65009202-65009314	MCF-7	breast:	n/a	n/a
2	TCF7L2	chr14:65009224-65009307	Hela-S3	cervix:	n/a	n/a
3	ELF1	chr14:65006533-65009416	MCF-7	breast:	n/a	chr14:65007278-65007290
4	SETDB1	chr14:65007073-65009454	U2OS	brain:	n/a	n/a
5	POLR2A	chr14:65006011-65009255	MCF-7	breast:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:65006961..65009286-chr14:65016299..65018796,2	K562	blood:
2	chr14:65007817..65010307-chr14:65107845..65109704,2	MCF-7	breast:
3	chr14:64969034..64974113-chr14:65005478..65010690,22	MCF-7	breast:
4	chr14:65006111..65008789-chr14:65009033..65011662,5	MCF-7	breast:
5	chr14:65008751..65009279-chr14:65103132..65103948,2	MCF-7	breast:
6	chr14:64967941..64976890-chr14:65001097..65012463,31	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000259116	TF binding region
ENSG00000126804	Chromatin interaction
ENSG00000165807	Chromatin interaction
ENSG00000126803	Chromatin interaction
ENSG00000089775	Chromatin interaction
ENSG00000259116	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs449865	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59553915	1.00[AMR][1000 genomes]
rs59981106	1.00[AMR][1000 genomes]
rs61457510	0.83[AFR][1000 genomes]
rs61676255	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73269759	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3390097	chr14:65002586-65009255	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65005800-65010200	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr14:65005800-65011600	Active TSS	Brain Anterior Caudate	brain
3	chr14:65005800-65012000	Active TSS	Brain Angular Gyrus	brain
4	chr14:65005800-65012000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr14:65006000-65010400	Active TSS	Aorta	Aorta
6	chr14:65006000-65011400	Active TSS	Colon Smooth Muscle	Colon
7	chr14:65006000-65012000	Active TSS	Brain Substantia Nigra	brain
8	chr14:65006200-65010200	Active TSS	Psoas Muscle	Psoas
9	chr14:65006400-65012000	Active TSS	Brain Cingulate Gyrus	brain
10	chr14:65006400-65012400	Active TSS	Brain Hippocampus Middle	brain
11	chr14:65007400-65009400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
12	chr14:65007400-65009400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
13	chr14:65007400-65009400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
14	chr14:65007400-65009400	Flanking Active TSS	Pancreas	Pancrea
15	chr14:65007400-65009400	Flanking Active TSS	Right Ventricle	heart
16	chr14:65007400-65009600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
17	chr14:65007400-65009600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
18	chr14:65007400-65009600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
19	chr14:65007400-65009600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
20	chr14:65007400-65010200	Bivalent/Poised TSS	Fetal Kidney	kidney
21	chr14:65007600-65009400	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
22	chr14:65007600-65009400	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
23	chr14:65007600-65009400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
24	chr14:65007600-65009400	Flanking Bivalent TSS/Enh	Spleen	Spleen
25	chr14:65007600-65009400	Bivalent/Poised TSS	NHLF	lung
26	chr14:65007600-65009600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
27	chr14:65007600-65009600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
28	chr14:65007600-65009600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
29	chr14:65007600-65010600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr14:65007800-65009400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
31	chr14:65007800-65009400	Bivalent/Poised TSS	Fetal Brain Female	brain
32	chr14:65007800-65009400	Bivalent/Poised TSS	Osteobl	bone
33	chr14:65007800-65009600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr14:65007800-65009600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
35	chr14:65007800-65009600	Bivalent/Poised TSS	Small Intestine	intestine
36	chr14:65008000-65009400	Active TSS	Colonic Mucosa	Colon
37	chr14:65008200-65009400	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
38	chr14:65008200-65009400	Flanking Bivalent TSS/Enh	NH-A	brain
39	chr14:65008200-65011200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr14:65008200-65011800	Active TSS	Brain Inferior Temporal Lobe	brain
41	chr14:65008400-65009600	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr14:65008400-65009600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
43	chr14:65008400-65009600	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
44	chr14:65008600-65009400	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
45	chr14:65008600-65009400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
46	chr14:65008600-65009400	Active TSS	Primary T helper naive cells from peripheral blood	blood
47	chr14:65008600-65009400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
48	chr14:65008600-65009400	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
49	chr14:65008600-65009600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr14:65008600-65009600	Active TSS	Esophagus	oesophagus

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