Variant report

Variant	rs373659526
Chromosome Location	chr14:24642093-24642094
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:29)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:29 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:24640714-24642559	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr14:24640902-24642906	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr14:24640454-24642983	GM12878	blood:	n/a	n/a
4	POLR2A	chr14:24642061-24642120	MCF-7	breast:	n/a	n/a
5	MTA3	chr14:24641979-24642609	GM12878	blood:	n/a	n/a
6	POLR2A	chr14:24641247-24642944	A549	lung:	n/a	n/a
7	POLR2A	chr14:24640638-24642869	GM19193	blood:	n/a	n/a
8	POLR2A	chr14:24639375-24643075	GM12891	blood:	n/a	n/a
9	POLR2A	chr14:24641993-24643047	GM12891	blood:	n/a	n/a
10	POLR2A	chr14:24639969-24643029	GM12891	blood:	n/a	n/a
11	POLR2A	chr14:24640569-24643031	H1-hESC	embryonic stem cell:	n/a	n/a
12	MXI1	chr14:24640504-24642708	SK-N-SH	brain:	n/a	n/a
13	EP300	chr14:24640548-24642714	SK-N-SH	brain:	n/a	n/a
14	POLR2A	chr14:24638137-24643601	GM12892	blood:	n/a	n/a
15	POLR2A	chr14:24639415-24643065	GM12892	blood:	n/a	n/a
16	POLR2A	chr14:24640704-24642257	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr14:24641790-24642320	GM12878	blood:	n/a	n/a
18	POLR2A	chr14:24639366-24643007	GM12892	blood:	n/a	n/a
19	POLR2A	chr14:24640677-24642299	GM12892	blood:	n/a	n/a
20	POLR2A	chr14:24641777-24642960	HepG2	liver:	n/a	n/a
21	PML	chr14:24640283-24642208	GM12878	blood:	n/a	n/a
22	POLR2A	chr14:24640644-24642417	GM18505	blood:	n/a	n/a
23	POLR2A	chr14:24640456-24642980	GM12878	blood:	n/a	n/a
24	POLR2A	chr14:24641513-24642756	HepG2	liver:	n/a	n/a
25	POLR2A	chr14:24629025-24642975	GM12878	blood:	n/a	n/a
26	POLR2A	chr14:24628755-24643416	GM12878	blood:	n/a	n/a
27	POLR2A	chr14:24628891-24643060	GM12892	blood:	n/a	n/a
28	POLR2A	chr14:24635678-24642994	GM12891	blood:	n/a	n/a
29	POLR2A	chr14:24641884-24642395	ECC-1	luminal epithelium:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr14:24625193..24627577-chr14:24641996..24645426,3	K562	blood:
2	chr14:24631879..24637788-chr14:24639506..24644553,5	K562	blood:
3	chr14:24641149..24643201-chr14:24656538..24659107,2	K562	blood:
4	chr14:24624246..24626788-chr14:24641996..24643836,2	K562	blood:
5	chr14:24639747..24642550-chr14:24651922..24653711,2	K562	blood:
6	chr14:24628958..24631680-chr14:24640156..24642572,2	K562	blood:
7	chr14:24640332..24642740-chr14:24644969..24648486,4	K562	blood:
8	chr14:24526357..24527984-chr14:24640632..24642546,2	MCF-7	breast:
9	chr14:24628913..24631680-chr14:24639494..24642572,3	K562	blood:

No data

Variant related genes	Relation type
REC8	TF binding region
ENSG00000213928	Chromatin interaction
ENSG00000186648	Chromatin interaction
ENSG00000092098	Chromatin interaction
ENSG00000196497	Chromatin interaction
ENSG00000100918	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3405661	chr14:24189883-24670942	Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
2	esv1827678	chr14:24520544-24663325	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
3	nsv869985	chr14:24578013-24652669	Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
4	nsv901498	chr14:24591892-24662177	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
5	nsv522667	chr14:24641526-24654590	Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24631600-24653800	Weak transcription	K562	blood
2	chr14:24635200-24647400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr14:24635400-24647800	Weak transcription	HMEC	breast
4	chr14:24635600-24647000	Weak transcription	Dnd41	blood
5	chr14:24636200-24646000	Weak transcription	Stomach Mucosa	stomach
6	chr14:24636600-24642200	Weak transcription	Hela-S3	cervix
7	chr14:24636600-24646000	Weak transcription	Small Intestine	intestine
8	chr14:24636600-24647400	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr14:24637000-24648000	Weak transcription	HSMM	muscle
10	chr14:24637000-24648200	Weak transcription	HSMMtube	muscle
11	chr14:24637200-24644400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr14:24637200-24645800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:24637200-24645800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr14:24637200-24646000	Weak transcription	HepG2	liver
15	chr14:24637200-24648000	Weak transcription	Aorta	Aorta
16	chr14:24638200-24648600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr14:24638200-24648600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr14:24638800-24643800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr14:24639200-24645800	Weak transcription	Osteobl	bone
20	chr14:24640200-24642800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr14:24640400-24642600	Flanking Active TSS	Fetal Thymus	thymus
22	chr14:24640600-24642200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr14:24640600-24642200	Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr14:24640600-24642200	Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr14:24640600-24642200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr14:24640600-24642200	Active TSS	Brain Angular Gyrus	brain
27	chr14:24640600-24642400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
28	chr14:24640600-24642400	Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr14:24640600-24642400	Flanking Active TSS	Stomach Smooth Muscle	stomach
30	chr14:24640600-24642600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr14:24640600-24642600	Active TSS	Fetal Kidney	kidney
32	chr14:24640800-24642200	Flanking Active TSS	Fetal Muscle Leg	muscle
33	chr14:24640800-24642200	Flanking Active TSS	NH-A	brain
34	chr14:24640800-24642400	Active TSS	Fetal Intestine Large	intestine
35	chr14:24640800-24642600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
36	chr14:24640800-24642800	Strong transcription	NHLF	lung
37	chr14:24641200-24642200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr14:24641200-24642200	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr14:24641200-24642200	Flanking Active TSS	Primary hematopoietic stem cells	blood
40	chr14:24641200-24642200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr14:24641200-24642200	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr14:24641200-24645800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr14:24641200-24647800	Strong transcription	Liver	Liver
44	chr14:24641400-24642400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
45	chr14:24641400-24642400	Strong transcription	A549	lung
46	chr14:24641400-24642600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr14:24641400-24642800	Strong transcription	NHEK	skin
48	chr14:24641400-24643000	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
49	chr14:24641400-24647600	Weak transcription	Psoas Muscle	Psoas
50	chr14:24641400-24648200	Weak transcription	Left Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links