Variant report

Variant	rs562813725
Chromosome Location	chr14:45608106-45608107
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:45608106-45608156	AG09309	skin:	n/a
2	chr14:45608106-45608156	BE2_C	brain:	n/a
3	chr14:45608106-45608156	ECC-1	luminal epithelium:	n/a
4	chr14:45608106-45608156	T-47D	breast:	n/a
5	chr14:45608106-45608156	Jurkat	blood:	n/a
6	chr14:45608106-45608156	A549	lung:	n/a
7	chr14:45608106-45608156	NH-A	brain:	n/a
8	chr14:45608106-45608156	U87	brain:	n/a
9	chr14:45608106-45608156	HEK293	kidney:	embryo
10	chr14:45608106-45608156	GM12878	blood:	n/a
11	chr14:45608106-45608156	SAEC	small airway:	n/a
12	chr14:45608106-45608156	GM19239	blood:	n/a
13	chr14:45608106-45608156	RPTEC	kidney:	n/a
14	chr14:45608106-45608156	MCF-7	breast:	n/a
15	chr14:45608106-45608156	HNPCEpiC	eye:	n/a
16	chr14:45608106-45608156	PANC-1	pancreas:	n/a
17	chr14:45608106-45608156	NB4	blood:	n/a
18	chr14:45608106-45608156	H1-hESC	embryonic stem cell:	embryo
19	chr14:45608106-45608156	IMR90	lung:	fetal
20	chr14:45608106-45608156	HCF	heart:	n/a
21	chr14:45608106-45608156	HUVEC	blood vessel:	n/a
22	chr14:45608106-45608156	HL-60	blood:	n/a
23	chr14:45608106-45608156	MCF10A-Er-Src	breast:	n/a
24	chr14:45608106-45608156	HPAEpiC	pulmonary alveolar:	n/a
25	chr14:45608106-45608156	GM06990	blood:	n/a
26	chr14:45608106-45608156	NHDF-neo	bronchial:	n/a
27	chr14:45608106-45608156	LNCaP	prostate:	n/a
28	chr14:45608106-45608156	HCM	heart:	n/a
29	chr14:45608106-45608156	NHBE	bronchial:	n/a
30	chr14:45608106-45608156	ProgFib	skin:	n/a
31	chr14:45608106-45608156	GM12891	blood:	n/a
32	chr14:45608106-45608156	SK-N-SH_RA	brain:	n/a
33	chr14:45608106-45608156	ovcar-3	ovarian:	n/a
34	chr14:45608106-45608156	HCT-116	colon:	n/a
35	chr14:45608106-45608156	HIPEpiC	eye:	n/a
36	chr14:45608106-45608156	NT2-D1	testis:	n/a
37	chr14:45608106-45608156	K562	blood:	n/a
38	chr14:45608106-45608156	HEEpiC	esophagus:	n/a
39	chr14:45608106-45608156	HRPEpiC	eye:	n/a
40	chr14:45608106-45608156	AG04449	skin:	fetal
41	chr14:45608106-45608156	SKMC	muscle:	n/a
42	chr14:45608106-45608156	PrEC	prostate:	n/a
43	chr14:45608106-45608156	AoSMC	blood vessel:	n/a
44	chr14:45608106-45608156	HCPEpiC	choroid plexus:	n/a
45	chr14:45608106-45608156	HMEC	breast:	n/a
46	chr14:45608106-45608156	PFSK-1	brain:	n/a
47	chr14:45608106-45608156	SK-N-SH	brain:	n/a
48	chr14:45608106-45608156	HepG2	liver:	n/a
49	chr14:45608106-45608156	Caco-2	colon:	n/a
50	chr14:45608106-45608156	AG10803	skin:	n/a

(count:3 , 50 per page) page: 1

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	chr14:45600775..45605834-chr14:45607431..45611467,5	K562	blood:

No data

Variant related genes	Relation type
FKBP3	CpG island
ENSG00000179454	Chromatin interaction
ENSG00000187790	Chromatin interaction
ENSG00000198718	Chromatin interaction
ENSG00000100442	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:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:45600600-45608600	Active TSS	GM12878-XiMat	blood
2	chr14:45602000-45608200	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr14:45605800-45613800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr14:45605800-45613800	Weak transcription	Gastric	stomach
5	chr14:45605800-45613800	Weak transcription	Lung	lung
6	chr14:45605800-45618200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr14:45606000-45608200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr14:45606000-45608200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr14:45606000-45614000	Weak transcription	Fetal Muscle Trunk	muscle
10	chr14:45606000-45618400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr14:45606000-45618600	Weak transcription	Left Ventricle	heart
12	chr14:45606000-45618800	Weak transcription	Placenta	Placenta
13	chr14:45606000-45622200	Weak transcription	Pancreas	Pancrea
14	chr14:45606000-45634600	Weak transcription	Esophagus	oesophagus
15	chr14:45606000-45679600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr14:45606200-45608800	Flanking Active TSS	Dnd41	blood
17	chr14:45606200-45622400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr14:45606400-45613800	Weak transcription	Spleen	Spleen
19	chr14:45606400-45615800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr14:45606400-45616000	Weak transcription	Right Ventricle	heart
21	chr14:45606400-45620600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr14:45606400-45641200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr14:45606600-45608200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr14:45606600-45608400	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr14:45606600-45630600	Weak transcription	Fetal Muscle Leg	muscle
26	chr14:45606600-45634400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr14:45606600-45636400	Weak transcription	Stomach Smooth Muscle	stomach
28	chr14:45607000-45608400	Enhancers	Brain Germinal Matrix	brain
29	chr14:45607000-45613600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr14:45607000-45613800	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr14:45607000-45613800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr14:45607000-45636400	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr14:45607000-45660000	Weak transcription	Ovary	ovary
34	chr14:45607200-45609000	Enhancers	Osteobl	bone
35	chr14:45607200-45613600	Weak transcription	Fetal Stomach	stomach
36	chr14:45607200-45613800	Weak transcription	Thymus	Thymus
37	chr14:45607200-45618000	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr14:45607200-45619600	Weak transcription	Colon Smooth Muscle	Colon
39	chr14:45607200-45633200	Weak transcription	Fetal Thymus	thymus
40	chr14:45607200-45634800	Weak transcription	HSMM	muscle
41	chr14:45607200-45638800	Weak transcription	Fetal Brain Female	brain
42	chr14:45607200-45639000	Weak transcription	Liver	Liver
43	chr14:45607400-45608200	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr14:45607400-45608200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr14:45607400-45608400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr14:45607400-45608400	Enhancers	Fetal Heart	heart
47	chr14:45607400-45608400	Enhancers	HUVEC	blood vessel
48	chr14:45607400-45608600	Enhancers	HepG2	liver
49	chr14:45607400-45608600	Enhancers	NHEK	skin
50	chr14:45607400-45608800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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