Variant report

Variant	rs12279185
Chromosome Location	chr11:108557672-108557673
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11212756	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs12281684	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs6589030	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs73554972	0.93[AFR][1000 genomes]
rs7934946	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7939884	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7948143	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7951395	0.90[AFR][1000 genomes];0.89[AMR][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	nsv1052254	chr11:108122683-108845008	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv541164	chr11:108122683-108845008	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv898386	chr11:108409442-108831875	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv898388	chr11:108440814-108724639	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv832264	chr11:108449613-108623720	ZNF genes & repeats Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:108536600-108578400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:108537800-108560200	Weak transcription	Small Intestine	intestine
3	chr11:108538200-108574800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr11:108540400-108560600	Weak transcription	Pancreas	Pancrea
5	chr11:108541400-108562800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr11:108541400-108578200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr11:108543600-108575200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr11:108544200-108569000	Weak transcription	Fetal Heart	heart
9	chr11:108546800-108561000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr11:108546800-108569400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr11:108548200-108560400	Weak transcription	Spleen	Spleen
12	chr11:108548200-108560600	Weak transcription	Esophagus	oesophagus
13	chr11:108548200-108561000	Weak transcription	Lung	lung
14	chr11:108548200-108561200	Weak transcription	Gastric	stomach
15	chr11:108548200-108562800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:108548200-108577600	Weak transcription	Colonic Mucosa	Colon
17	chr11:108548400-108559800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr11:108548400-108577200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr11:108548600-108559600	Weak transcription	Brain Cingulate Gyrus	brain
20	chr11:108548600-108560000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr11:108548600-108570200	Weak transcription	Fetal Kidney	kidney
22	chr11:108548600-108577400	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr11:108548800-108559800	Weak transcription	Brain Anterior Caudate	brain
24	chr11:108548800-108559800	Weak transcription	HSMMtube	muscle
25	chr11:108548800-108561200	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr11:108548800-108561200	Weak transcription	Rectal Smooth Muscle	rectum
27	chr11:108548800-108564200	Weak transcription	Hela-S3	cervix
28	chr11:108548800-108577400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr11:108549000-108565800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr11:108549200-108558400	Weak transcription	HepG2	liver
31	chr11:108549200-108577400	Weak transcription	Right Ventricle	heart
32	chr11:108550400-108560000	Weak transcription	Colon Smooth Muscle	Colon
33	chr11:108550400-108565200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr11:108550600-108559600	Weak transcription	Brain Hippocampus Middle	brain
35	chr11:108550800-108559600	Weak transcription	Fetal Muscle Trunk	muscle
36	chr11:108550800-108559600	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr11:108550800-108561200	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr11:108550800-108564200	Weak transcription	Fetal Brain Male	brain
39	chr11:108551000-108559400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr11:108551000-108559600	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr11:108551000-108559600	Weak transcription	K562	blood
42	chr11:108551200-108559200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr11:108551200-108559400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr11:108551200-108559600	Weak transcription	Left Ventricle	heart
45	chr11:108551200-108559600	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr11:108551200-108559800	Weak transcription	Brain Angular Gyrus	brain
47	chr11:108551200-108559800	Weak transcription	Placenta	Placenta
48	chr11:108551200-108561000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr11:108551200-108561000	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr11:108552400-108564200	Weak transcription	HMEC	breast

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