Variant report

Variant	rs2295311
Chromosome Location	chr14:24739480-24739481
allele	C/T
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:14)
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	MYBL2	chr14:24739399-24741481	HepG2	liver:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:24563251..24565464-chr14:24739353..24742072,2	K562	blood:
2	chr14:24738849..24740758-chr14:24911753..24913964,2	MCF-7	breast:
3	chr14:24658469..24661265-chr14:24739057..24740636,2	K562	blood:
4	chr14:24683518..24685322-chr14:24738872..24741925,4	K562	blood:
5	chr14:24731299..24737661-chr14:24737668..24742603,15	K562	blood:
6	chr14:24728033..24731088-chr14:24738307..24741895,4	K562	blood:
7	chr14:24710128..24713467-chr14:24737949..24741923,9	K562	blood:
8	chr14:24706492..24710014-chr14:24739300..24741823,3	K562	blood:
9	chr14:24680755..24686632-chr14:24737203..24743863,8	MCF-7	breast:
10	chr14:24738558..24740532-chr14:24907754..24910468,2	MCF-7	breast:
11	chr14:24738683..24743110-chr14:24766285..24769354,4	K562	blood:
12	chr14:24710704..24713128-chr14:24738885..24741180,4	K562	blood:
13	chr14:24739150..24741254-chr14:24902393..24904882,2	MCF-7	breast:
14	chr14:24737357..24740167-chr14:24791316..24793649,2	MCF-7	breast:

No data

Variant related genes	Relation type
RABGGTA	TF binding region
ENSG00000260669	Chromatin interaction
ENSG00000100441	Chromatin interaction
ENSG00000259522	Chromatin interaction
ENSG00000129535	Chromatin interaction
ENSG00000100445	Chromatin interaction
ENSG00000196943	Chromatin interaction
ENSG00000092295	Chromatin interaction
ENSG00000157379	Chromatin interaction
ENSG00000100938	Chromatin interaction
ENSG00000129467	Chromatin interaction
ENSG00000213920	Chromatin interaction
ENSG00000100889	Chromatin interaction
ENSG00000254505	Chromatin interaction
ENSG00000100949	Chromatin interaction
ENSG00000254692	Chromatin interaction
ENSG00000092330	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11622118	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2075530	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2281473	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2295315	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2877612	0.98[ASN][1000 genomes]
rs3814813	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3825585	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6573651	0.98[ASN][1000 genomes]
rs6573653	0.98[ASN][1000 genomes]
rs941505	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041336	chr14:24726564-25527319	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542000	chr14:24726564-25527319	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24712600-24740000	Weak transcription	Small Intestine	intestine
2	chr14:24713000-24740000	Weak transcription	Right Atrium	heart
3	chr14:24716400-24739800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr14:24716600-24739800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr14:24720000-24739600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr14:24721600-24739800	Weak transcription	HUVEC	blood vessel
7	chr14:24722600-24740000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:24726200-24739800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr14:24726800-24739800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr14:24727800-24739800	Weak transcription	K562	blood
11	chr14:24728400-24739800	Strong transcription	Fetal Intestine Small	intestine
12	chr14:24729000-24739800	Weak transcription	NH-A	brain
13	chr14:24729000-24740000	Weak transcription	HSMM	muscle
14	chr14:24729600-24739600	Strong transcription	Fetal Stomach	stomach
15	chr14:24729600-24739800	Weak transcription	A549	lung
16	chr14:24729800-24739800	Weak transcription	Hela-S3	cervix
17	chr14:24732000-24739600	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr14:24732000-24739600	Strong transcription	Lung	lung
19	chr14:24732600-24740000	Weak transcription	Colon Smooth Muscle	Colon
20	chr14:24732800-24739600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr14:24732800-24739800	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr14:24733200-24740000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr14:24733800-24739800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr14:24734200-24739600	Strong transcription	Primary neutrophils fromperipheralblood	blood
25	chr14:24734400-24739800	Strong transcription	Placenta	Placenta
26	chr14:24734400-24740000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr14:24734400-24740000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr14:24734400-24740000	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr14:24734600-24739600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr14:24734600-24739600	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr14:24734600-24739600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr14:24734600-24739600	Strong transcription	NHEK	skin
33	chr14:24734800-24739800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr14:24735200-24740000	Weak transcription	Fetal Brain Male	brain
35	chr14:24735800-24739800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr14:24736000-24740000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr14:24736200-24739800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr14:24736400-24740000	Weak transcription	HSMMtube	muscle
39	chr14:24736800-24739600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr14:24737000-24739800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr14:24737000-24740000	Weak transcription	Primary hematopoietic stem cells	blood
42	chr14:24737200-24739800	Weak transcription	Brain Angular Gyrus	brain
43	chr14:24737200-24739800	Weak transcription	Stomach Mucosa	stomach
44	chr14:24737200-24740000	Weak transcription	Rectal Smooth Muscle	rectum
45	chr14:24737400-24739800	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr14:24737400-24739800	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr14:24737400-24740000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr14:24737400-24740200	Weak transcription	Aorta	Aorta
49	chr14:24737800-24740000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr14:24738000-24739800	Genic enhancers	Esophagus	oesophagus

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