Variant report

Variant	rs2653587
Chromosome Location	chr11:8948058-8948059
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	chr11:8941546..8948177-chr11:8950032..8955141,6	MCF-7	breast:
2	chr11:8940620..8943003-chr11:8946457..8949397,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000176029	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10219366	0.87[EUR][1000 genomes]
rs10769976	0.86[EUR][1000 genomes]
rs10840156	0.86[EUR][1000 genomes]
rs12798311	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1347016	0.88[AFR][1000 genomes]
rs2016844	0.88[EUR][1000 genomes]
rs2056903	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2116510	0.88[AFR][1000 genomes]
rs2116511	0.88[AFR][1000 genomes]
rs2246878	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2247038	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2316523	0.87[AFR][1000 genomes]
rs2316541	0.88[AFR][1000 genomes]
rs2568034	0.85[EUR][1000 genomes]
rs2568042	0.84[EUR][1000 genomes]
rs2568069	0.88[AFR][1000 genomes]
rs2568074	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2568075	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2568077	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2568079	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2568081	0.90[AFR][1000 genomes]
rs2568086	0.85[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs2568087	0.88[AFR][1000 genomes]
rs2568088	0.85[AFR][1000 genomes]
rs2653565	0.84[EUR][1000 genomes]
rs2653590	0.88[AFR][1000 genomes]
rs2653594	0.81[AFR][1000 genomes]
rs2653597	0.82[AFR][1000 genomes]
rs2653601	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2653604	0.88[AFR][1000 genomes]
rs2653611	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2742486	0.88[AFR][1000 genomes]
rs2742487	0.88[AFR][1000 genomes]
rs2742488	0.88[AFR][1000 genomes]
rs2742491	0.87[AFR][1000 genomes]
rs2742493	0.88[AFR][1000 genomes]
rs2742495	0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2742496	0.85[EUR][1000 genomes]
rs2742497	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2742504	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2742505	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2742512	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2742513	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2742514	0.83[ASN][1000 genomes]
rs2742521	0.84[EUR][1000 genomes]
rs3751063	0.86[EUR][1000 genomes]
rs4909951	0.86[EUR][1000 genomes]
rs4910181	0.86[EUR][1000 genomes]
rs7942026	0.84[AFR][1000 genomes]
rs909464	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9300096	0.86[EUR][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	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
5	esv3413845	chr11:8887279-9285127	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2653587	C11orf17	Cis_1M	lymphoblastoid	RTeQTL
rs2653587	C11orf17	cis	multi-tissue	Pritchard

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8934000-8952200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:8934200-8948800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:8936400-8951200	Weak transcription	Right Atrium	heart
4	chr11:8936600-8948600	Strong transcription	Fetal Thymus	thymus
5	chr11:8936600-8949000	Strong transcription	Fetal Stomach	stomach
6	chr11:8936600-8954000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr11:8937000-8948200	Strong transcription	Fetal Brain Female	brain
8	chr11:8939000-8948200	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr11:8939400-8948200	Strong transcription	Skeletal Muscle Male	skeletal muscle
10	chr11:8939400-8948800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr11:8940000-8948400	Strong transcription	Spleen	Spleen
12	chr11:8940200-8948600	Strong transcription	Stomach Smooth Muscle	stomach
13	chr11:8940200-8949200	Weak transcription	Primary B cells from cord blood	blood
14	chr11:8940800-8949200	Weak transcription	Fetal Heart	heart
15	chr11:8941200-8953400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr11:8941200-8956200	Weak transcription	K562	blood
17	chr11:8942000-8948800	Weak transcription	Rectal Smooth Muscle	rectum
18	chr11:8942400-8950200	Weak transcription	Esophagus	oesophagus
19	chr11:8942400-8959000	Weak transcription	Fetal Kidney	kidney
20	chr11:8942600-8948800	Weak transcription	Colonic Mucosa	Colon
21	chr11:8943200-8950000	Weak transcription	GM12878-XiMat	blood
22	chr11:8943200-8950800	Weak transcription	Primary T cells from cord blood	blood
23	chr11:8943800-8969200	Weak transcription	Primary hematopoietic stem cells	blood
24	chr11:8944000-8952200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr11:8944200-8956400	Weak transcription	HUVEC	blood vessel
26	chr11:8944600-8950000	Weak transcription	HMEC	breast
27	chr11:8944600-8950000	Weak transcription	HSMMtube	muscle
28	chr11:8944600-8950800	Weak transcription	HepG2	liver
29	chr11:8944600-8985000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:8944800-8949000	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr11:8944800-8949200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr11:8944800-8949600	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr11:8944800-8950200	Weak transcription	Placenta	Placenta
34	chr11:8944800-8954000	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr11:8944800-8956400	Weak transcription	Fetal Intestine Large	intestine
36	chr11:8945000-8948600	Weak transcription	Left Ventricle	heart
37	chr11:8945000-8949000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr11:8945000-8949800	Weak transcription	Pancreas	Pancrea
39	chr11:8945000-8950200	Weak transcription	Right Ventricle	heart
40	chr11:8945000-8950400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr11:8945000-8950400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr11:8945000-8950400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr11:8945000-8950400	Weak transcription	HSMM	muscle
44	chr11:8945000-8950400	Weak transcription	Osteobl	bone
45	chr11:8945000-8950800	Weak transcription	Brain Substantia Nigra	brain
46	chr11:8945000-8950800	Weak transcription	Ovary	ovary
47	chr11:8945000-8951000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr11:8945000-8951800	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr11:8945000-8953600	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr11:8945000-8953600	Weak transcription	Skeletal Muscle Female	skeletal muscle

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