Variant report

Variant	rs12279270
Chromosome Location	chr11:100623501-100623502
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11224332	1.00[AMR][1000 genomes]
rs11224341	1.00[AMR][1000 genomes]
rs11224343	1.00[AMR][1000 genomes]
rs11224346	1.00[AMR][1000 genomes]
rs11224385	1.00[AMR][1000 genomes]
rs11224404	1.00[AFR][1000 genomes]
rs11224418	0.90[AFR][1000 genomes]
rs11224428	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11224429	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11224438	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11224465	1.00[AMR][1000 genomes]
rs11224525	1.00[AMR][1000 genomes]
rs12274762	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12275133	1.00[AMR][1000 genomes]
rs12277269	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12278938	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12279931	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12281021	1.00[AMR][1000 genomes]
rs12281097	1.00[AMR][1000 genomes]
rs12284980	1.00[AFR][1000 genomes]
rs12286434	1.00[AMR][1000 genomes]
rs12286625	1.00[AMR][1000 genomes]
rs12287226	1.00[AMR][1000 genomes]
rs12295600	1.00[AMR][1000 genomes]
rs13377291	0.92[YRI][hapmap];0.93[AFR][1000 genomes]
rs56805393	1.00[AMR][1000 genomes]
rs61104011	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73565305	1.00[AMR][1000 genomes]
rs73565310	1.00[AMR][1000 genomes]
rs73565331	1.00[AMR][1000 genomes]
rs73565337	1.00[AMR][1000 genomes]
rs73565348	1.00[AMR][1000 genomes]
rs73567534	1.00[AMR][1000 genomes]
rs73571424	1.00[AMR][1000 genomes]
rs73573332	1.00[AMR][1000 genomes]
rs73573395	0.97[AFR][1000 genomes]
rs73575539	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73580523	1.00[AMR][1000 genomes]
rs7933646	1.00[YRI][hapmap];1.00[AFR][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:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:100612400-100630800	Weak transcription	Right Atrium	heart
2	chr11:100613000-100631600	Weak transcription	Ovary	ovary
3	chr11:100613200-100628400	Weak transcription	Fetal Kidney	kidney
4	chr11:100614200-100623800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr11:100619200-100623800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr11:100620800-100623800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr11:100620800-100626800	Weak transcription	Liver	Liver
8	chr11:100620800-100628400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr11:100621000-100642400	Weak transcription	Stomach Smooth Muscle	stomach
10	chr11:100621200-100623600	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr11:100621400-100624400	Weak transcription	Fetal Lung	lung
12	chr11:100621400-100631600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr11:100621600-100623600	Weak transcription	Duodenum Mucosa	Duodenum
14	chr11:100622200-100623600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr11:100622200-100624000	Weak transcription	Fetal Stomach	stomach
16	chr11:100622200-100625800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr11:100622400-100623600	Weak transcription	Fetal Muscle Leg	muscle
18	chr11:100622800-100624000	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr11:100622800-100624600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr11:100622800-100624600	Enhancers	Placenta	Placenta
21	chr11:100622800-100624800	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr11:100622800-100624800	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr11:100622800-100624800	Enhancers	HMEC	breast
24	chr11:100622800-100624800	Enhancers	NHEK	skin
25	chr11:100622800-100625200	Enhancers	Fetal Heart	heart
26	chr11:100623000-100624200	Enhancers	Spleen	Spleen
27	chr11:100623000-100624400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr11:100623000-100624600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr11:100623000-100624600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr11:100623000-100624600	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr11:100623000-100624800	Enhancers	Stomach Mucosa	stomach
32	chr11:100623000-100625000	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr11:100623000-100625200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr11:100623000-100625200	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr11:100623000-100625200	Enhancers	A549	lung
36	chr11:100623000-100626000	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr11:100623000-100626400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr11:100623200-100623600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr11:100623200-100624400	Enhancers	Gastric	stomach
40	chr11:100623200-100624600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr11:100623200-100624600	Enhancers	Left Ventricle	heart
42	chr11:100623200-100624600	Enhancers	Right Ventricle	heart
43	chr11:100623200-100624800	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr11:100623200-100625000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr11:100623200-100625400	Enhancers	H1 Cell Line	embryonic stem cell
46	chr11:100623200-100626000	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr11:100623200-100626400	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr11:100623400-100623600	Weak transcription	Fetal Muscle Trunk	muscle
49	chr11:100623400-100623800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
50	chr11:100623400-100624600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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