Variant report

Variant	rs4752968
Chromosome Location	chr11:47185457-47185458
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:47179475..47181210-chr11:47184967..47187078,2	MCF-7	breast:
2	chr11:47184473..47185977-chr6:26123417..26125817,2	K562	blood:
3	chr11:47183256..47186030-chr11:47281970..47284554,2	MCF-7	breast:
4	chr11:47183301..47185568-chr11:47370586..47372939,2	K562	blood:
5	chr11:46890949..46892684-chr11:47183314..47186093,2	K562	blood:
6	chr11:47185316..47187006-chr17:58634417..58637411,2	MCF-7	breast:
7	chr11:47176348..47178224-chr11:47185293..47188253,2	K562	blood:
8	chr11:47183888..47186311-chr11:47279921..47282394,2	MCF-7	breast:
9	chr11:47182976..47185487-chr11:47185518..47189747,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000025434	Chromatin interaction
ENSG00000180573	Chromatin interaction
ENSG00000149179	Chromatin interaction
ENSG00000180596	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10501319	0.90[ASN][1000 genomes]
rs10838652	0.83[ASN][1000 genomes]
rs10838658	0.87[ASN][1000 genomes]
rs10838662	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs10838663	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10838664	0.86[ASN][1000 genomes]
rs11039080	0.83[ASN][1000 genomes]
rs11039081	0.84[ASN][1000 genomes]
rs11039098	0.91[ASN][1000 genomes]
rs11601798	0.90[ASN][1000 genomes]
rs11603373	0.86[ASN][1000 genomes]
rs12417519	0.87[ASN][1000 genomes]
rs12574410	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2087215	0.89[ASN][1000 genomes]
rs2279438	0.85[ASN][1000 genomes]
rs2279439	0.86[ASN][1000 genomes]
rs3922684	0.87[ASN][1000 genomes]
rs4269876	0.87[ASN][1000 genomes]
rs4315028	0.84[ASN][1000 genomes]
rs4498951	0.87[ASN][1000 genomes]
rs4576779	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4587689	0.87[ASN][1000 genomes]
rs4752965	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4752969	0.90[ASN][1000 genomes]
rs61896133	0.87[ASN][1000 genomes]
rs61896136	0.87[ASN][1000 genomes]
rs61897787	0.84[ASN][1000 genomes]
rs61897844	0.91[ASN][1000 genomes]
rs6485726	0.83[ASN][1000 genomes]
rs7112854	0.87[ASN][1000 genomes]
rs7114683	0.83[ASN][1000 genomes]
rs7127741	0.83[ASN][1000 genomes]
rs7130006	0.83[ASN][1000 genomes]
rs7937410	0.86[ASN][1000 genomes]
rs7940240	0.86[ASN][1000 genomes]
rs7950753	0.82[ASN][1000 genomes]
rs7951979	0.86[ASN][1000 genomes]
rs901747	0.86[ASN][1000 genomes]
rs923324	0.89[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897323	chr11:47182926-47460306	Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4752968	DDB2	Cis_1M	lymphoblastoid	RTeQTL
rs4752968	ACP2	Cis_1M	lymphoblastoid	RTeQTL
rs4752968	DGKZ	cis	cerebellar cortex	BrainEAC

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:47165200-47185600	Weak transcription	Aorta	Aorta
2	chr11:47165400-47188600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:47171400-47186000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr11:47171600-47186400	Weak transcription	Psoas Muscle	Psoas
5	chr11:47174800-47185600	Weak transcription	Left Ventricle	heart
6	chr11:47175200-47185600	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr11:47175200-47185600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr11:47175200-47185800	Weak transcription	Small Intestine	intestine
9	chr11:47175200-47186400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:47175200-47188600	Weak transcription	Fetal Heart	heart
11	chr11:47175400-47185600	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr11:47175400-47185600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr11:47175400-47185600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr11:47175400-47186000	Weak transcription	HUVEC	blood vessel
15	chr11:47175400-47186600	Weak transcription	Fetal Kidney	kidney
16	chr11:47175400-47197600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr11:47176000-47196600	Strong transcription	Fetal Intestine Small	intestine
18	chr11:47176200-47185600	Weak transcription	HSMM	muscle
19	chr11:47176200-47187800	Weak transcription	NHDF-Ad	bronchial
20	chr11:47176600-47188600	Weak transcription	Fetal Brain Male	brain
21	chr11:47176800-47193000	Strong transcription	Fetal Brain Female	brain
22	chr11:47176800-47196600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr11:47177000-47186200	Weak transcription	GM12878-XiMat	blood
24	chr11:47177400-47186200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr11:47177400-47187000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr11:47177800-47185600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr11:47178000-47186400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr11:47178000-47186400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr11:47178000-47197000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr11:47178200-47194000	Strong transcription	Dnd41	blood
31	chr11:47178400-47186200	Weak transcription	HSMMtube	muscle
32	chr11:47178800-47196800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr11:47180000-47186000	Weak transcription	Fetal Lung	lung
34	chr11:47180600-47196600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
35	chr11:47180800-47186200	Weak transcription	Stomach Mucosa	stomach
36	chr11:47180800-47188600	Weak transcription	K562	blood
37	chr11:47181400-47197000	Weak transcription	Right Atrium	heart
38	chr11:47182000-47196400	Strong transcription	Hela-S3	cervix
39	chr11:47182200-47185600	Strong transcription	Thymus	Thymus
40	chr11:47182200-47193400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr11:47182200-47194800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr11:47182200-47197000	Strong transcription	Primary neutrophils fromperipheralblood	blood
43	chr11:47182400-47187200	Genic enhancers	Fetal Muscle Trunk	muscle
44	chr11:47182400-47196400	Strong transcription	Fetal Intestine Large	intestine
45	chr11:47183200-47185800	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr11:47183200-47186000	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr11:47183200-47186800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr11:47183200-47194000	Strong transcription	Primary B cells from peripheral blood	blood
49	chr11:47183200-47197000	Strong transcription	Placenta	Placenta
50	chr11:47183200-47197200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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