Variant report

Variant	rs10793139
Chromosome Location	chr11:75865197-75865198
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:75864698..75867155-chr11:75871013..75872936,2	MCF-7	breast:
2	chr11:75864249..75865220-chr11:76029478..76030050,2	MCF-7	breast:
3	chr11:75864528..75867031-chr11:75871798..75873454,2	K562	blood:
4	chr11:75679377..75681059-chr11:75863070..75865584,2	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs35031069	0.90[ASN][1000 genomes]
rs4477460	0.86[ASN][1000 genomes]
rs593570	0.96[EUR][1000 genomes]
rs605771	0.80[EUR][1000 genomes]
rs625232	0.93[EUR][1000 genomes]
rs7106626	0.86[ASN][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	nsv394	chr11:75820547-75865777	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv1049039	chr11:75827548-76023665	Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Enhancers 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	30 gene(s)	inside rSNPs	diseases
3	nsv1051472	chr11:75851880-75922608	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv1037940	chr11:75855316-75909619	Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv897926	chr11:75862571-76004202	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10793139	CLPB	cis	parietal	SCAN
rs10793139	ARHGEF17	cis	parietal	SCAN
rs10793139	NUMA1	cis	cerebellum	SCAN

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75833400-75872800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr11:75862800-75869200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr11:75863000-75865200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr11:75863600-75865200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr11:75863800-75865200	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr11:75863800-75865200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr11:75863800-75865200	Enhancers	Placenta Amnion	Placenta Amnion
8	chr11:75863800-75865200	Enhancers	NHDF-Ad	bronchial
9	chr11:75863800-75865400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr11:75863800-75865800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr11:75863800-75865800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr11:75864000-75865800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr11:75864000-75865800	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr11:75864000-75865800	Enhancers	Adipose Nuclei	Adipose
15	chr11:75864000-75868000	Weak transcription	Fetal Heart	heart
16	chr11:75864400-75865200	Enhancers	Brain Anterior Caudate	brain
17	chr11:75864400-75865200	Enhancers	Brain Substantia Nigra	brain
18	chr11:75864400-75865200	Enhancers	GM12878-XiMat	blood
19	chr11:75864400-75865600	Enhancers	Primary T cells fromperipheralblood	blood
20	chr11:75864400-75868000	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr11:75864400-75871800	Weak transcription	Right Atrium	heart
22	chr11:75864600-75872600	Weak transcription	Fetal Intestine Large	intestine
23	chr11:75864800-75868000	Weak transcription	Fetal Thymus	thymus
24	chr11:75865000-75865200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
25	chr11:75865000-75865200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr11:75865000-75865400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr11:75865000-75866400	Weak transcription	Fetal Lung	lung
28	chr11:75865000-75866600	Weak transcription	Placenta	Placenta
29	chr11:75865000-75868000	Enhancers	HepG2	liver
30	chr11:75865000-75868200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr11:75865000-75868800	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr11:75865000-75869000	Weak transcription	Pancreas	Pancrea
33	chr11:75865000-75869600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr11:75865000-75876000	Weak transcription	Spleen	Spleen

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