Variant report

Variant	rs74040010
Chromosome Location	chr14:24585905-24585906
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	MAZ	chr14:24582588-24585923	IMR90	lung:	n/a	chr14:24584225-24584235 chr14:24584227-24584236 chr14:24584221-24584236 chr14:24584145-24584154 chr14:24584224-24584235 chr14:24584225-24584235 chr14:24584224-24584235 chr14:24584223-24584238 chr14:24584225-24584234 chr14:24583292-24583302
2	POLR2A	chr14:24585483-24586026	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:24581325..24587358-chr14:24608969..24612486,6	K562	blood:
2	chr14:24581756..24587936-chr14:24614253..24620861,10	K562	blood:
3	chr14:24583636..24586311-chr14:24599120..24601165,2	K562	blood:
4	chr14:24582457..24585997-chr14:24603732..24607330,8	K562	blood:
5	chr14:24581290..24596396-chr14:24599989..24617678,100	MCF-7	breast:
6	chr14:24581352..24586794-chr14:24656349..24659951,9	MCF-7	breast:
7	chr14:24582545..24585335-chr14:24585530..24587095,2	K562	blood:
8	chr14:24581146..24586451-chr14:24599665..24612678,16	K562	blood:

Variant related genes	Relation type
DCAF11	TF binding region
NRL	TF binding region
ENSG00000259371	TF binding region
ENSG00000259522	Chromatin interaction
ENSG00000100908	Chromatin interaction
ENSG00000100911	Chromatin interaction
ENSG00000129535	Chromatin interaction
ENSG00000196497	Chromatin interaction
ENSG00000139914	Chromatin interaction
ENSG00000092098	Chromatin interaction
ENSG00000100897	Chromatin interaction
ENSG00000259321	Chromatin interaction
ENSG00000259529	Chromatin interaction
ENSG00000092010	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10132601	1.00[EUR][1000 genomes]
rs10136189	1.00[EUR][1000 genomes]
rs10137012	1.00[EUR][1000 genomes]
rs10138006	1.00[EUR][1000 genomes]
rs10147702	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10151593	1.00[EUR][1000 genomes]
rs11574504	1.00[EUR][1000 genomes]
rs28420107	1.00[EUR][1000 genomes]
rs28625516	1.00[EUR][1000 genomes]
rs28674477	1.00[EUR][1000 genomes]
rs34861984	1.00[EUR][1000 genomes]
rs61737105	1.00[EUR][1000 genomes]
rs7151831	1.00[EUR][1000 genomes]

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	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

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24582600-24586000	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr14:24583000-24586000	Active TSS	Fetal Intestine Small	intestine
3	chr14:24584400-24586000	Flanking Active TSS	Adipose Nuclei	Adipose
4	chr14:24584400-24586000	Flanking Active TSS	Stomach Smooth Muscle	stomach
5	chr14:24584600-24586000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
6	chr14:24584600-24586000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr14:24584600-24586000	Flanking Active TSS	Fetal Brain Female	brain
8	chr14:24584800-24586200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr14:24584800-24586200	Flanking Active TSS	Duodenum Mucosa	Duodenum
10	chr14:24584800-24586400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr14:24584800-24586600	Flanking Active TSS	Liver	Liver
12	chr14:24585000-24586000	Flanking Active TSS	Fetal Lung	lung
13	chr14:24585000-24586000	Flanking Active TSS	GM12878-XiMat	blood
14	chr14:24585000-24586400	Enhancers	Spleen	Spleen
15	chr14:24585200-24586000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr14:24585200-24586000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr14:24585200-24586000	Enhancers	Colon Smooth Muscle	Colon
18	chr14:24585200-24586000	Enhancers	Gastric	stomach
19	chr14:24585200-24586000	Enhancers	Placenta Amnion	Placenta Amnion
20	chr14:24585200-24586400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr14:24585200-24586400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr14:24585200-24586600	Weak transcription	Aorta	Aorta
23	chr14:24585200-24587200	Weak transcription	HSMMtube	muscle
24	chr14:24585400-24586000	Enhancers	Primary B cells from peripheral blood	blood
25	chr14:24585400-24586000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr14:24585400-24586000	Enhancers	Colonic Mucosa	Colon
27	chr14:24585400-24586000	Genic enhancers	Fetal Muscle Leg	muscle
28	chr14:24585400-24586000	Enhancers	Ovary	ovary
29	chr14:24585400-24586000	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
30	chr14:24585400-24586200	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr14:24585400-24586200	Enhancers	Right Atrium	heart
32	chr14:24585400-24586200	Enhancers	Stomach Mucosa	stomach
33	chr14:24585400-24586600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr14:24585400-24586600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr14:24585400-24586600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr14:24585400-24586600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr14:24585400-24586600	Weak transcription	Osteobl	bone
38	chr14:24585400-24586800	Enhancers	Psoas Muscle	Psoas
39	chr14:24585400-24586800	Enhancers	Small Intestine	intestine
40	chr14:24585400-24587000	Weak transcription	A549	lung
41	chr14:24585400-24587200	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr14:24585400-24587200	Weak transcription	HUVEC	blood vessel
43	chr14:24585400-24587200	Weak transcription	NHLF	lung
44	chr14:24585400-24587400	Weak transcription	NH-A	brain
45	chr14:24585400-24588800	Weak transcription	NHDF-Ad	bronchial
46	chr14:24585600-24586000	Transcr. at gene 5' and 3'	H9 Cell Line	embryonic stem cell
47	chr14:24585600-24586000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr14:24585600-24586000	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
49	chr14:24585600-24586000	Transcr. at gene 5' and 3'	Brain Cingulate Gyrus	brain
50	chr14:24585600-24586000	Enhancers	Brain Hippocampus Middle	brain

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