Variant report

Variant	rs548366921
Chromosome Location	chr14:45607300-45607301
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	JUN	chr14:45607186-45607470	K562	blood:	n/a	n/a
2	STAT3	chr14:45607278-45607359	MCF10A-Er-Src	breast:	n/a	n/a
3	MYC	chr14:45607208-45607408	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:45603146..45606664-chr14:45606745..45609948,6	MCF-7	breast:
2	chr14:45428929..45435608-chr14:45601966..45608462,12	MCF-7	breast:
3	chr14:45601512..45605313-chr14:45605494..45608093,6	K562	blood:
4	chr14:45602011..45605313-chr14:45605492..45607351,3	K562	blood:

Variant related genes	Relation type
FKBP3	TF binding region
ENSG00000100442	Chromatin interaction
ENSG00000187790	Chromatin interaction
ENSG00000179454	Chromatin interaction
ENSG00000198718	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 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
9	esv1800510	chr14:45572528-45650813	Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	25 gene(s)	inside rSNPs	diseases
10	nsv530814	chr14:45604432-46198418	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
11	nsv901844	chr14:45606287-46063731	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
12	nsv1044445	chr14:45606779-45807171	Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45600600-45608600	Active TSS	GM12878-XiMat	blood
2	chr14:45602000-45607400	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr14:45602000-45607400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr14:45602000-45608200	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr14:45602200-45607600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr14:45602200-45607600	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr14:45602200-45608000	Active TSS	K562	blood
8	chr14:45602600-45607400	Active TSS	NHLF	lung
9	chr14:45602800-45608000	Active TSS	NHDF-Ad	bronchial
10	chr14:45603400-45607400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr14:45605400-45607400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr14:45605600-45607400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
13	chr14:45605600-45607400	Flanking Active TSS	HUVEC	blood vessel
14	chr14:45605800-45607400	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr14:45605800-45607400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr14:45605800-45613800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr14:45605800-45613800	Weak transcription	Gastric	stomach
18	chr14:45605800-45613800	Weak transcription	Lung	lung
19	chr14:45605800-45618200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr14:45606000-45607400	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr14:45606000-45607400	Enhancers	Primary B cells from peripheral blood	blood
22	chr14:45606000-45607400	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr14:45606000-45607400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
24	chr14:45606000-45607400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr14:45606000-45608200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr14:45606000-45608200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr14:45606000-45614000	Weak transcription	Fetal Muscle Trunk	muscle
28	chr14:45606000-45618400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr14:45606000-45618600	Weak transcription	Left Ventricle	heart
30	chr14:45606000-45618800	Weak transcription	Placenta	Placenta
31	chr14:45606000-45622200	Weak transcription	Pancreas	Pancrea
32	chr14:45606000-45634600	Weak transcription	Esophagus	oesophagus
33	chr14:45606000-45679600	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr14:45606200-45607400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr14:45606200-45607400	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr14:45606200-45607400	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr14:45606200-45607400	Enhancers	Fetal Intestine Small	intestine
38	chr14:45606200-45607600	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr14:45606200-45608800	Flanking Active TSS	Dnd41	blood
40	chr14:45606200-45622400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr14:45606400-45607400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr14:45606400-45607400	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr14:45606400-45607400	Enhancers	Primary B cells from cord blood	blood
44	chr14:45606400-45607400	Flanking Active TSS	A549	lung
45	chr14:45606400-45607400	Flanking Active TSS	NHEK	skin
46	chr14:45606400-45607600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr14:45606400-45607800	Enhancers	Primary T cells from cord blood	blood
48	chr14:45606400-45613800	Weak transcription	Spleen	Spleen
49	chr14:45606400-45615800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr14:45606400-45616000	Weak transcription	Right Ventricle	heart

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