Variant report

Variant	rs36180552
Chromosome Location	chr11:8857657-8857658
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	FOS	chr11:8857610-8857707	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:8856465..8859459-chr11:8859495..8861215,2	MCF-7	breast:

Variant related genes	Relation type
ST5	TF binding region
ENSG00000166444	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10522860	0.82[ASN][1000 genomes]
rs10734638	0.82[EUR][1000 genomes]
rs10840127	0.86[ASN][1000 genomes]
rs10840129	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11042070	0.86[ASN][1000 genomes]
rs11042072	0.86[ASN][1000 genomes]
rs11042099	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs16906056	0.86[ASN][1000 genomes]
rs17337866	0.91[ASN][1000 genomes]
rs1811367	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2568029	0.82[EUR][1000 genomes]
rs2568035	0.84[EUR][1000 genomes]
rs2568056	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2568078	0.81[EUR][1000 genomes]
rs2653558	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2653566	0.81[EUR][1000 genomes]
rs2653591	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2653618	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2742502	0.81[EUR][1000 genomes]
rs2742549	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2742553	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34023999	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34033747	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34152382	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34275210	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34371023	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34417491	0.86[ASN][1000 genomes]
rs34418236	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34581555	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34769330	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35503692	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35563381	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs35580466	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35909878	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs36094920	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs36100955	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3850934	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3915868	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4910068	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4929915	0.82[ASN][1000 genomes]
rs7117900	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7127197	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7950491	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758256	chr11:8784813-9009573	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv2759803	chr11:8784813-9009573	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv435923	chr11:8839325-9000602	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv832062	chr11:8849295-9009472	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs36180552	C11orf17	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8833200-8859800	Weak transcription	Aorta	Aorta
2	chr11:8845800-8860000	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr11:8851000-8859200	Weak transcription	Fetal Lung	lung
4	chr11:8851000-8861400	Weak transcription	Brain Substantia Nigra	brain
5	chr11:8851800-8862400	Enhancers	Placenta	Placenta
6	chr11:8852000-8859200	Enhancers	Placenta Amnion	Placenta Amnion
7	chr11:8852800-8861600	Weak transcription	Brain Cingulate Gyrus	brain
8	chr11:8853000-8858000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr11:8853000-8861400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr11:8854400-8861000	Weak transcription	Pancreas	Pancrea
11	chr11:8854600-8859400	Weak transcription	Right Atrium	heart
12	chr11:8854600-8859400	Weak transcription	Stomach Mucosa	stomach
13	chr11:8854600-8860000	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr11:8854600-8860400	Weak transcription	Gastric	stomach
15	chr11:8854600-8861000	Weak transcription	Lung	lung
16	chr11:8854600-8861400	Weak transcription	A549	lung
17	chr11:8854800-8859200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr11:8854800-8859400	Weak transcription	Ovary	ovary
19	chr11:8854800-8860600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr11:8854800-8861000	Weak transcription	Fetal Intestine Small	intestine
21	chr11:8855200-8859800	Weak transcription	Fetal Kidney	kidney
22	chr11:8855400-8859600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr11:8855400-8859800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr11:8855400-8861000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr11:8855400-8861000	Weak transcription	Esophagus	oesophagus
26	chr11:8855400-8861000	Weak transcription	Fetal Muscle Trunk	muscle
27	chr11:8855400-8861800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr11:8855600-8859400	Weak transcription	Left Ventricle	heart
29	chr11:8855600-8859600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr11:8855600-8859800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr11:8855600-8859800	Weak transcription	Fetal Heart	heart
32	chr11:8855600-8860000	Weak transcription	Right Ventricle	heart
33	chr11:8855600-8861200	Weak transcription	Hela-S3	cervix
34	chr11:8855800-8859400	Weak transcription	Spleen	Spleen
35	chr11:8855800-8859800	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr11:8855800-8859800	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr11:8855800-8861200	Weak transcription	GM12878-XiMat	blood
38	chr11:8855800-8861600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr11:8856000-8859200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr11:8856000-8859200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr11:8856000-8859800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr11:8856000-8859800	Weak transcription	Rectal Smooth Muscle	rectum
43	chr11:8856000-8860000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr11:8856200-8858600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr11:8856200-8859400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr11:8856200-8859400	Weak transcription	HMEC	breast
47	chr11:8856200-8859800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr11:8856200-8859800	Weak transcription	Colon Smooth Muscle	Colon
49	chr11:8856200-8860000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr11:8856200-8860200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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