Variant report

Variant	rs7951226
Chromosome Location	chr11:8961247-8961248
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 83 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs10219366	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10734639	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10743094	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10769974	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10769976	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10769977	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10840150	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs10840151	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10840153	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10840154	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10840155	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10840156	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11042128	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11042129	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11042131	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12798311	0.80[EUR][1000 genomes]
rs1347016	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2016844	0.81[EUR][1000 genomes]
rs2043218	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2056903	0.81[EUR][1000 genomes]
rs2116510	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2116511	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2163625	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2246878	0.81[EUR][1000 genomes]
rs2247038	0.81[EUR][1000 genomes]
rs2316523	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2316541	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2568069	0.90[AMR][1000 genomes];0.99[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	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2568086	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2568087	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2568088	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2653590	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2653594	0.91[EUR][1000 genomes]
rs2653597	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2653601	0.81[EUR][1000 genomes]
rs2653604	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2653611	0.83[EUR][1000 genomes]
rs2742486	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2742487	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2742488	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2742489	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2742491	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2742493	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2742494	0.82[AMR][1000 genomes];0.89[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	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2742519	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3751063	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3751065	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3751066	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3751068	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3763911	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3763912	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4909951	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910179	0.85[AFR][1000 genomes]
rs4910181	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs7106152	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7932377	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7942026	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs909464	0.81[EUR][1000 genomes]
rs9300096	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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
6	nsv430318	chr11:8958492-8964319	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv553449	chr11:8958903-8964691	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv553450	chr11:8958903-8964938	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv553451	chr11:8959020-8962764	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv553452	chr11:8959020-8964691	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv553453	chr11:8959020-8964938	Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7951226	C11orf17	cis	multi-tissue	Pritchard
rs7951226	C11orf17	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8943800-8969200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr11:8944600-8985000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:8945800-8974000	Weak transcription	Colon Smooth Muscle	Colon
4	chr11:8947000-8968800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr11:8947000-8977000	Weak transcription	Aorta	Aorta
6	chr11:8947400-8969000	Weak transcription	Thymus	Thymus
7	chr11:8947600-8969000	Weak transcription	Brain Cingulate Gyrus	brain
8	chr11:8948200-8969000	Weak transcription	Fetal Brain Female	brain
9	chr11:8948600-8969200	Weak transcription	Gastric	stomach
10	chr11:8948600-8969200	Weak transcription	Stomach Smooth Muscle	stomach
11	chr11:8951200-8974400	Weak transcription	HepG2	liver
12	chr11:8952600-8975800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr11:8952800-8968600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr11:8954400-8984400	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr11:8955200-8976200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr11:8955800-8968000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr11:8956800-8968600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr11:8956800-8969000	Weak transcription	Osteobl	bone
19	chr11:8957000-8962400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr11:8957000-8968000	Weak transcription	HSMM	muscle
21	chr11:8957000-8968800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr11:8957000-8968800	Weak transcription	Fetal Intestine Large	intestine
23	chr11:8957000-8969000	Weak transcription	HSMMtube	muscle
24	chr11:8957000-8969800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr11:8957000-8969800	Weak transcription	Fetal Stomach	stomach
26	chr11:8957000-8974200	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr11:8957000-8980800	Weak transcription	Fetal Heart	heart
28	chr11:8957200-8968800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr11:8957200-8968800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr11:8957200-8969000	Weak transcription	A549	lung
31	chr11:8957200-8969200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr11:8957200-8970200	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr11:8957200-8973400	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr11:8957400-8968600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr11:8957400-8968800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr11:8957400-8969000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr11:8957400-8969000	Weak transcription	Fetal Thymus	thymus
38	chr11:8957400-8969000	Weak transcription	NH-A	brain
39	chr11:8957400-8969800	Weak transcription	Spleen	Spleen
40	chr11:8958800-8969000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr11:8959000-8968800	Weak transcription	Placenta	Placenta
42	chr11:8959000-8974000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr11:8959200-8970600	Weak transcription	Fetal Kidney	kidney
44	chr11:8959600-8961800	Weak transcription	GM12878-XiMat	blood
45	chr11:8959600-8962600	Weak transcription	K562	blood
46	chr11:8960800-8969200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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