Variant report

Variant	rs7106152
Chromosome Location	chr11:8980760-8980761
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:8706753..8709894-chr11:8978976..8982993,5	K562	blood:
2	chr11:8702265..8704876-chr11:8979129..8981140,2	MCF-7	breast:
3	chr11:8973666..8975791-chr11:8980074..8981590,2	K562	blood:
4	chr11:8980645..8982852-chr11:8983601..8986780,3	K562	blood:
5	chr11:8980645..8983033-chr11:8983601..8987670,5	K562	blood:
6	chr11:8710507..8713607-chr11:8978684..8982274,4	K562	blood:
7	chr11:8935646..8936651-chr11:8980737..8981722,3	MCF-7	breast:
8	chr11:8979873..8982866-chr11:8983729..8987375,4	MCF-7	breast:
9	chr11:8961456..8964030-chr11:8978805..8982021,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000175348	Chromatin interaction
ENSG00000166441	Chromatin interaction
ENSG00000212607	Chromatin interaction
ENSG00000254860	Chromatin interaction

Extended variants
information (count: 77 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10219366	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10734639	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10743094	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10769974	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10769976	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10769977	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10840150	0.84[AMR][1000 genomes]
rs10840151	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10840153	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10840154	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10840155	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10840156	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11042128	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11042129	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11042131	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12798311	0.80[EUR][1000 genomes]
rs1347016	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2016844	0.81[EUR][1000 genomes]
rs2043218	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2056903	0.81[EUR][1000 genomes]
rs2116510	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2116511	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2163625	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2246878	0.81[EUR][1000 genomes]
rs2247038	0.81[EUR][1000 genomes]
rs2316523	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2316541	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2568069	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2568074	0.81[EUR][1000 genomes]
rs2568075	0.81[EUR][1000 genomes]
rs2568077	0.81[EUR][1000 genomes]
rs2568079	0.83[EUR][1000 genomes]
rs2568081	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2568086	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2568087	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2568088	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2653590	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2653594	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2653597	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2653601	0.81[EUR][1000 genomes]
rs2653604	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2653611	0.83[EUR][1000 genomes]
rs2742486	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2742487	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2742488	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2742489	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2742491	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2742493	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2742494	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2742495	0.83[EUR][1000 genomes]
rs2742496	0.82[EUR][1000 genomes]
rs2742497	0.83[EUR][1000 genomes]
rs2742504	0.83[EUR][1000 genomes]
rs2742505	0.83[EUR][1000 genomes]
rs2742512	0.81[EUR][1000 genomes]
rs2742513	0.81[EUR][1000 genomes]
rs2742514	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2742519	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs3751063	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3751065	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3751066	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3751068	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3763911	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3763912	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4909951	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4910181	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4910290	0.82[ASN][1000 genomes]
rs7932377	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7942026	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7951226	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs909464	0.81[EUR][1000 genomes]
rs9300096	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[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	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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7106152	C11orf17	cis	multi-tissue	Pritchard

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8944600-8985000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:8954400-8984400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr11:8957000-8980800	Weak transcription	Fetal Heart	heart
4	chr11:8963200-8985000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:8965800-8984800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr11:8966400-8984000	Weak transcription	Fetal Brain Male	brain
7	chr11:8966800-8980800	Weak transcription	Small Intestine	intestine
8	chr11:8968200-8980800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr11:8968200-8985000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr11:8968600-8981000	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr11:8968800-8980800	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr11:8969400-8980800	Weak transcription	HSMMtube	muscle
13	chr11:8970200-8981000	Weak transcription	NHEK	skin
14	chr11:8970600-8984400	Weak transcription	Right Ventricle	heart
15	chr11:8970600-8985000	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr11:8970800-8980800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr11:8970800-8984400	Weak transcription	A549	lung
18	chr11:8971200-8984400	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr11:8972200-8980800	Weak transcription	NH-A	brain
20	chr11:8972200-8982800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr11:8972800-8980800	Strong transcription	Fetal Stomach	stomach
22	chr11:8972800-8984200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr11:8973600-8985000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr11:8974800-8980800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr11:8974800-8984000	Weak transcription	HepG2	liver
26	chr11:8974800-8984400	Weak transcription	Primary hematopoietic stem cells	blood
27	chr11:8975400-8980800	Weak transcription	Brain Anterior Caudate	brain
28	chr11:8976000-8981000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr11:8976200-8984000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr11:8977400-8984800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr11:8977600-8980800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr11:8977600-8980800	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr11:8977600-8980800	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr11:8977600-8980800	Weak transcription	Right Atrium	heart
35	chr11:8977600-8982800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr11:8977600-8984200	Weak transcription	Brain Germinal Matrix	brain
37	chr11:8977600-8985000	Weak transcription	Esophagus	oesophagus
38	chr11:8977600-8985000	Weak transcription	Fetal Muscle Trunk	muscle
39	chr11:8977800-8980800	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr11:8977800-8980800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr11:8977800-8980800	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr11:8977800-8980800	Weak transcription	HSMM	muscle
43	chr11:8977800-8980800	Weak transcription	HUVEC	blood vessel
44	chr11:8977800-8981000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr11:8977800-8981200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr11:8977800-8981400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr11:8977800-8981400	Weak transcription	Brain Substantia Nigra	brain
48	chr11:8977800-8982600	Weak transcription	Primary B cells from peripheral blood	blood
49	chr11:8977800-8984000	Weak transcription	Dnd41	blood
50	chr11:8977800-8984200	Weak transcription	Brain Inferior Temporal Lobe	brain

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