Variant report

Variant	rs7120147
Chromosome Location	chr11:100614738-100614739
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11224405	0.95[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs11224426	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11224427	0.85[ASN][1000 genomes]
rs12284151	0.96[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs4753983	0.85[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs6590818	0.98[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs7126015	0.97[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs7945336	0.88[AFR][1000 genomes]
rs7945656	0.95[AFR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053430	chr11:99888390-100629136	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1042067	chr11:99889697-100629136	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1037689	chr11:99895378-100624599	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1040942	chr11:99895378-100629136	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1045190	chr11:99913193-100627395	Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv541153	chr11:99913193-100627395	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv529454	chr11:99913394-100627255	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv520995	chr11:100163957-100681211	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv530643	chr11:100196082-100713156	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv898327	chr11:100569021-100631075	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:100598800-100620000	Weak transcription	Gastric	stomach
2	chr11:100599800-100619800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:100607400-100615600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr11:100608200-100614800	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr11:100610200-100614800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr11:100611400-100622800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr11:100611600-100617000	Weak transcription	Fetal Stomach	stomach
8	chr11:100611600-100619600	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr11:100611800-100619600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr11:100612200-100619800	Weak transcription	Fetal Muscle Trunk	muscle
11	chr11:100612200-100620000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr11:100612400-100616800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr11:100612400-100616800	Weak transcription	Right Ventricle	heart
14	chr11:100612400-100619600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr11:100612400-100619600	Weak transcription	Placenta	Placenta
16	chr11:100612400-100619800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr11:100612400-100619800	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr11:100612400-100619800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr11:100612400-100620000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr11:100612400-100620000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr11:100612400-100620000	Weak transcription	Fetal Lung	lung
22	chr11:100612400-100620400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:100612400-100630800	Weak transcription	Right Atrium	heart
24	chr11:100612600-100616800	Weak transcription	Left Ventricle	heart
25	chr11:100612600-100619800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr11:100612800-100617000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr11:100612800-100617200	Weak transcription	A549	lung
28	chr11:100613000-100616400	Weak transcription	Fetal Intestine Small	intestine
29	chr11:100613000-100617000	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr11:100613000-100619400	Weak transcription	Fetal Muscle Leg	muscle
31	chr11:100613000-100619600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr11:100613000-100619800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr11:100613000-100620000	Weak transcription	Liver	Liver
34	chr11:100613000-100620000	Weak transcription	Duodenum Mucosa	Duodenum
35	chr11:100613000-100631600	Weak transcription	Ovary	ovary
36	chr11:100613200-100628400	Weak transcription	Fetal Kidney	kidney
37	chr11:100613600-100619200	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr11:100613800-100616600	Weak transcription	Fetal Heart	heart
39	chr11:100613800-100617000	Weak transcription	Stomach Mucosa	stomach
40	chr11:100614200-100618800	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr11:100614200-100623800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr11:100614400-100615600	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr11:100614400-100616800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr11:100614400-100616800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr11:100614600-100617200	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr11:100614600-100617200	Weak transcription	HUES64 Cell Line	embryonic stem cell

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