Variant report

Variant	rs4756029
Chromosome Location	chr11:45836794-45836795
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:45836782..45839612-chr11:45867458..45870636,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000121671	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11038668	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11038670	0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11038671	0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11038675	0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11038679	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11038680	0.98[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11038683	0.98[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11038685	0.98[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4756026	0.92[ASN][1000 genomes]
rs4756030	0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55758172	0.90[ASN][1000 genomes]
rs56330140	0.98[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs72900638	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72900650	0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72900652	0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72900692	0.98[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs72900694	0.98[AMR][1000 genomes];0.81[EUR][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	nsv897314	chr11:45816020-45965129	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv897315	chr11:45817637-45838926	Enhancers Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4756029	MAPK8IP1	cis	Whole Blood	GTEx

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45828000-45837200	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr11:45828000-45837200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:45831200-45837600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr11:45831600-45837400	Weak transcription	Hela-S3	cervix
5	chr11:45832000-45838600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr11:45832200-45839600	Weak transcription	Fetal Heart	heart
7	chr11:45832800-45837200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr11:45833000-45837200	Weak transcription	A549	lung
9	chr11:45833600-45837200	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr11:45833600-45848000	Weak transcription	Right Ventricle	heart
11	chr11:45833800-45837200	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr11:45833800-45837400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:45833800-45837400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr11:45833800-45837600	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr11:45833800-45837600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr11:45833800-45837600	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr11:45833800-45838200	Weak transcription	GM12878-XiMat	blood
18	chr11:45833800-45838600	Weak transcription	Primary B cells from cord blood	blood
19	chr11:45833800-45841800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr11:45833800-45845400	Weak transcription	Ovary	ovary
21	chr11:45833800-45850000	Weak transcription	Brain Angular Gyrus	brain
22	chr11:45834000-45836800	Weak transcription	NHDF-Ad	bronchial
23	chr11:45834000-45837400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr11:45834000-45837600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr11:45834000-45838200	Weak transcription	Primary B cells from peripheral blood	blood
26	chr11:45834000-45845400	Weak transcription	Fetal Intestine Large	intestine
27	chr11:45834000-45845400	Weak transcription	Left Ventricle	heart
28	chr11:45834200-45837200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr11:45834200-45837400	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr11:45834200-45837400	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr11:45834200-45837400	Weak transcription	HSMMtube	muscle
32	chr11:45834200-45838800	Weak transcription	Colonic Mucosa	Colon
33	chr11:45834200-45839000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr11:45834200-45839000	Weak transcription	Spleen	Spleen
35	chr11:45834200-45839200	Weak transcription	Adipose Nuclei	Adipose
36	chr11:45834400-45836800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr11:45834400-45836800	Weak transcription	NHLF	lung
38	chr11:45834400-45837400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr11:45834400-45837400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr11:45834400-45837400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr11:45834400-45837400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr11:45834400-45837400	Weak transcription	Duodenum Mucosa	Duodenum
43	chr11:45834400-45837400	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr11:45834400-45837800	Weak transcription	Stomach Smooth Muscle	stomach
45	chr11:45834400-45838200	Weak transcription	Liver	Liver
46	chr11:45834400-45838200	Weak transcription	Brain Germinal Matrix	brain
47	chr11:45834400-45838200	Weak transcription	Esophagus	oesophagus
48	chr11:45834400-45838200	Weak transcription	Pancreas	Pancrea
49	chr11:45834400-45839200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr11:45834400-45845000	Weak transcription	Fetal Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links