Variant report

Variant	rs62000268
Chromosome Location	chr14:45552587-45552588
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MTA3	chr14:45552429-45553953	GM12878	blood:	n/a	n/a
2	RELA	chr14:45552582-45553915	GM18951	blood:	n/a	n/a
3	ZNF143	chr14:45552558-45552725	Hela-S3	cervix:	n/a	n/a
4	MXI1	chr14:45552259-45554589	IMR90	lung:	n/a	chr14:45553275-45553284
5	RELA	chr14:45552489-45553915	GM15510	blood:	n/a	n/a
6	POLR2A	chr14:45552559-45553950	HEK293	kidney:	n/a	n/a
7	RELA	chr14:45552415-45553631	GM19193	blood:	n/a	n/a
8	POLR2A	chr14:45552301-45553981	GM12891	blood:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:45552187..45554745-chr9:139890498..139892780,2	MCF-7	breast:
2	chr14:45552419..45555134-chr14:45577335..45584385,10	MCF-7	breast:
3	chr14:45430787..45433021-chr14:45551879..45555162,3	K562	blood:
4	chr14:45551908..45554831-chr14:45578936..45581671,3	MCF-7	breast:
5	chr14:45430704..45432872-chr14:45551768..45554827,3	K562	blood:
6	chr14:45552156..45555644-chr14:45564630..45569930,7	MCF-7	breast:
7	chr14:45552000..45555852-chr14:45600098..45605984,10	MCF-7	breast:
8	chr14:45552300..45554795-chr14:45602332..45605115,2	K562	blood:
9	chr14:45429808..45433002-chr14:45552349..45555813,4	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FKBP3-1	chr14:45552352-45552590	ENSG00000249163
2	lnc-FKBP3-1	chr14:45552279-45552604	XLOC_011011
3	lnc-FKBP3-1	chr14:45552352-45552590	XLOC_011011
4	lnc-FKBP3-1	chr14:45552248-45552590	ENSG00000249163
5	lnc-FKBP3-1	chr14:45552352-45552590	ENSG00000249163

No data

Variant related genes	Relation type
ENSG00000212615	TF binding region
PRPF39	TF binding region
ENSG00000198718	Chromatin interaction
ENSG00000100442	Chromatin interaction
ENSG00000239043	Chromatin interaction
ENSG00000179454	Chromatin interaction
ENSG00000169583	Chromatin interaction
ENSG00000187790	Chromatin interaction
ENSG00000185246	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs62000273	1.00[AFR][1000 genomes]
rs62000274	1.00[AFR][1000 genomes]

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	nsv901841	chr14:45198196-45719643	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	esv1795667	chr14:45361680-45721052	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	esv1794986	chr14:45368685-45650813	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	esv1803131	chr14:45441932-45726848	Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv933364	chr14:45467086-45705844	Enhancers Active TSS Strong transcription Weak transcription Flanking 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	32 gene(s)	inside rSNPs	diseases
6	nsv901842	chr14:45506857-45713358	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers 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	32 gene(s)	inside rSNPs	diseases
7	nsv901843	chr14:45506857-45833490	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer 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	40 gene(s)	inside rSNPs	diseases
8	nsv832785	chr14:45520670-45710741	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats 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	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45465800-45552600	Weak transcription	HMEC	breast
2	chr14:45508400-45552600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr14:45509200-45552600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr14:45509200-45552600	Weak transcription	Aorta	Aorta
5	chr14:45509200-45552600	Weak transcription	Pancreas	Pancrea
6	chr14:45509200-45552800	Weak transcription	Right Ventricle	heart
7	chr14:45509200-45553000	Weak transcription	Gastric	stomach
8	chr14:45516200-45552600	Weak transcription	Thymus	Thymus
9	chr14:45516400-45552600	Weak transcription	NH-A	brain
10	chr14:45516400-45552800	Weak transcription	Fetal Brain Male	brain
11	chr14:45516800-45552600	Weak transcription	Brain Cingulate Gyrus	brain
12	chr14:45524200-45552600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr14:45524600-45552600	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr14:45524800-45552600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr14:45524800-45552600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr14:45524800-45552600	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr14:45524800-45552800	Weak transcription	Placenta	Placenta
18	chr14:45524800-45553400	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr14:45525800-45552600	Weak transcription	Brain Angular Gyrus	brain
20	chr14:45529000-45552600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr14:45529200-45552600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr14:45535400-45552600	Weak transcription	HSMM	muscle
23	chr14:45535400-45552600	Weak transcription	Osteobl	bone
24	chr14:45535600-45552600	Weak transcription	Colon Smooth Muscle	Colon
25	chr14:45535600-45552600	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr14:45535600-45553000	Weak transcription	Small Intestine	intestine
27	chr14:45539600-45552600	Weak transcription	Brain Germinal Matrix	brain
28	chr14:45539600-45552600	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr14:45539600-45552600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr14:45539600-45552600	Weak transcription	Fetal Lung	lung
31	chr14:45539800-45552600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr14:45539800-45552600	Weak transcription	Stomach Smooth Muscle	stomach
33	chr14:45540000-45552600	Weak transcription	Fetal Kidney	kidney
34	chr14:45540400-45552600	Weak transcription	Ovary	ovary
35	chr14:45541600-45552600	Weak transcription	Brain Substantia Nigra	brain
36	chr14:45542000-45552600	Weak transcription	Fetal Stomach	stomach
37	chr14:45543000-45552600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr14:45543000-45552600	Weak transcription	Adipose Nuclei	Adipose
39	chr14:45543000-45552600	Weak transcription	Fetal Thymus	thymus
40	chr14:45543000-45552600	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr14:45543000-45552800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr14:45543400-45552600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr14:45543400-45552600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr14:45543400-45552600	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr14:45544000-45552600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr14:45545800-45552600	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr14:45551400-45552800	Enhancers	Fetal Intestine Large	intestine
48	chr14:45551600-45552600	Enhancers	Liver	Liver
49	chr14:45551600-45553000	Flanking Active TSS	A549	lung
50	chr14:45551800-45552600	Enhancers	HUES48 Cell Line	embryonic stem cell

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