Variant report

Variant	rs7945021
Chromosome Location	chr11:47512138-47512139
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	POLR2A	chr11:47512122-47512324	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:47509851..47512898-chr11:47514221..47516696,3	MCF-7	breast:
2	chr11:47510397..47513087-chr11:47516019..47518025,2	K562	blood:

Variant related genes	Relation type
ENSG00000265467	TF binding region
CELF1	TF binding region
ENSG00000149187	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11537751	0.91[AMR][1000 genomes]
rs11601200	0.91[AMR][1000 genomes]
rs11601934	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11602333	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11602837	0.91[AMR][1000 genomes]
rs11603587	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11603911	0.91[AMR][1000 genomes]
rs11604233	0.83[AMR][1000 genomes]
rs11605061	0.91[AMR][1000 genomes]
rs11607518	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11607855	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34603363	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs36016346	0.91[AMR][1000 genomes]
rs9666433	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832141	chr11:47333180-47520993	Flanking Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv897325	chr11:47411736-47600438	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers 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	55 gene(s)	inside rSNPs	diseases
3	nsv1036011	chr11:47413060-47582279	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 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	chr11:47485800-47518200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:47489200-47522800	Strong transcription	Fetal Thymus	thymus
3	chr11:47491400-47512200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr11:47499600-47513600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:47505600-47521600	Weak transcription	Fetal Brain Male	brain
6	chr11:47506400-47521200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:47507000-47517800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr11:47507000-47528200	Weak transcription	Small Intestine	intestine
9	chr11:47507200-47515200	Weak transcription	Colonic Mucosa	Colon
10	chr11:47507200-47515800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr11:47507200-47517400	Weak transcription	Aorta	Aorta
12	chr11:47507200-47522600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr11:47508400-47513400	Weak transcription	Fetal Stomach	stomach
14	chr11:47508400-47530200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr11:47508800-47513600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr11:47508800-47515600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr11:47508800-47516000	Weak transcription	Brain Hippocampus Middle	brain
18	chr11:47508800-47516200	Weak transcription	Brain Substantia Nigra	brain
19	chr11:47508800-47516600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr11:47508800-47516600	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr11:47508800-47519800	Weak transcription	Gastric	stomach
22	chr11:47508800-47519800	Weak transcription	Right Ventricle	heart
23	chr11:47508800-47521200	Weak transcription	Spleen	Spleen
24	chr11:47508800-47521600	Weak transcription	Fetal Brain Female	brain
25	chr11:47509000-47515600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr11:47509000-47515800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr11:47509000-47516200	Weak transcription	Brain Angular Gyrus	brain
28	chr11:47509000-47516600	Weak transcription	Rectal Smooth Muscle	rectum
29	chr11:47509000-47517600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr11:47509000-47520000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr11:47509000-47521200	Weak transcription	Lung	lung
32	chr11:47509000-47534400	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr11:47509200-47516600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr11:47509200-47521200	Weak transcription	Brain Germinal Matrix	brain
35	chr11:47509200-47530400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr11:47509400-47513600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr11:47509400-47516800	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr11:47509800-47512200	Enhancers	Ovary	ovary
39	chr11:47509800-47513000	Weak transcription	Placenta	Placenta
40	chr11:47509800-47513200	Weak transcription	Adipose Nuclei	Adipose
41	chr11:47509800-47514000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr11:47510000-47513200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr11:47510000-47513400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr11:47510000-47514200	Weak transcription	HMEC	breast
45	chr11:47510000-47515600	Weak transcription	Psoas Muscle	Psoas
46	chr11:47510000-47515600	Weak transcription	Right Atrium	heart
47	chr11:47510000-47515600	Weak transcription	Thymus	Thymus
48	chr11:47510000-47515800	Weak transcription	Brain Cingulate Gyrus	brain
49	chr11:47510000-47521200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr11:47510200-47516200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links