Variant report

Variant	rs28373297
Chromosome Location	chr14:24618250-24618251
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:24618153-24618481	HepG2	liver:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:24616215..24619153-chr14:24627779..24631890,5	K562	blood:
2	chr14:24617636..24620012-chr14:24740760..24742567,2	MCF-7	breast:
3	chr14:24519595..24523490-chr14:24615649..24620329,4	MCF-7	breast:
4	chr14:24614698..24618732-chr14:24681293..24686635,9	MCF-7	breast:
5	chr14:24581369..24585731-chr14:24613808..24618502,7	K562	blood:
6	chr14:24615864..24619238-chr14:24619913..24622350,3	K562	blood:
7	chr14:24581756..24587936-chr14:24614253..24620861,10	K562	blood:

No data

Variant related genes	Relation type
ENSG00000259529	TF binding region
PSME2	TF binding region
RNF31	TF binding region
ENSG00000199804	Chromatin interaction
ENSG00000254692	Chromatin interaction
ENSG00000186648	Chromatin interaction
ENSG00000213928	Chromatin interaction
ENSG00000254505	Chromatin interaction
ENSG00000213920	Chromatin interaction
ENSG00000092098	Chromatin interaction
ENSG00000260669	Chromatin interaction
ENSG00000129535	Chromatin interaction
ENSG00000259529	Chromatin interaction
ENSG00000100897	Chromatin interaction
ENSG00000100949	Chromatin interaction

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

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

rs_ID	r²[population]
rs10140260	1.00[EUR][1000 genomes]
rs10142080	1.00[EUR][1000 genomes]
rs10142310	1.00[EUR][1000 genomes]
rs17101758	1.00[EUR][1000 genomes]
rs28636804	1.00[EUR][1000 genomes]
rs7151467	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv456168	chr14:24525634-24618859	Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
4	nsv564057	chr14:24525634-24618859	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
5	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
6	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

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24617400-24618600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr14:24617400-24618600	Weak transcription	Aorta	Aorta
3	chr14:24617400-24621400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr14:24617600-24618400	Enhancers	Fetal Brain Male	brain
5	chr14:24617600-24618600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr14:24617600-24618800	Genic enhancers	Fetal Stomach	stomach
7	chr14:24617600-24619000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr14:24617600-24619600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr14:24617600-24630400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr14:24617800-24618400	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr14:24617800-24618600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:24617800-24618600	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr14:24617800-24618600	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr14:24617800-24618600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr14:24617800-24618600	Weak transcription	Esophagus	oesophagus
16	chr14:24617800-24618600	Genic enhancers	Fetal Muscle Leg	muscle
17	chr14:24617800-24618600	Weak transcription	Gastric	stomach
18	chr14:24617800-24618600	Weak transcription	Left Ventricle	heart
19	chr14:24617800-24618600	Weak transcription	Ovary	ovary
20	chr14:24617800-24618800	Genic enhancers	Colonic Mucosa	Colon
21	chr14:24617800-24618800	Weak transcription	Stomach Mucosa	stomach
22	chr14:24617800-24619000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr14:24617800-24619200	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr14:24617800-24619200	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr14:24617800-24619400	Genic enhancers	Primary B cells from peripheral blood	blood
26	chr14:24617800-24619400	Genic enhancers	Liver	Liver
27	chr14:24617800-24619400	Genic enhancers	Skeletal Muscle Male	skeletal muscle
28	chr14:24617800-24619600	Genic enhancers	Spleen	Spleen
29	chr14:24617800-24626800	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr14:24617800-24629800	Weak transcription	Right Atrium	heart
31	chr14:24618000-24618400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr14:24618000-24618400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr14:24618000-24618400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr14:24618000-24618400	Weak transcription	Colon Smooth Muscle	Colon
35	chr14:24618000-24618400	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr14:24618000-24618600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr14:24618000-24618600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr14:24618000-24618600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr14:24618000-24618600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr14:24618000-24618600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr14:24618000-24618600	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr14:24618000-24618600	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr14:24618000-24618600	Weak transcription	Brain Anterior Caudate	brain
44	chr14:24618000-24618600	Weak transcription	Brain Cingulate Gyrus	brain
45	chr14:24618000-24618600	Weak transcription	Fetal Brain Female	brain
46	chr14:24618000-24618600	Weak transcription	Lung	lung
47	chr14:24618000-24618600	Weak transcription	Pancreas	Pancrea
48	chr14:24618000-24618600	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr14:24618000-24618600	Weak transcription	HMEC	breast
50	chr14:24618000-24618600	Weak transcription	HUVEC	blood vessel

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