Variant report

Variant	rs12414650
Chromosome Location	chr10:91505768-91505769
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11593892	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11594682	0.83[EUR][1000 genomes]
rs11597847	0.81[EUR][1000 genomes]
rs11598015	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11598257	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12413697	0.87[EUR][1000 genomes]
rs12414269	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12415422	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17484219	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2026553	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34354493	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56189305	0.80[AFR][1000 genomes]
rs56318555	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72818744	0.82[EUR][1000 genomes]
rs72818750	0.82[EUR][1000 genomes]
rs72818751	0.82[EUR][1000 genomes]
rs72818757	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72818758	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72818759	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72818766	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72818768	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72818770	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72818773	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72818774	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72818781	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72818783	0.83[EUR][1000 genomes]
rs72818786	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054572	chr10:91471956-91537070	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv1046241	chr10:91478562-91614437	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv869080	chr10:91498641-91712834	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:91461600-91546600	Weak transcription	Small Intestine	intestine
2	chr10:91461800-91505800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr10:91462000-91505800	Weak transcription	Left Ventricle	heart
4	chr10:91462200-91505800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr10:91462200-91505800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr10:91462200-91505800	Weak transcription	Gastric	stomach
7	chr10:91462200-91505800	Weak transcription	Lung	lung
8	chr10:91463400-91505800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr10:91463400-91521600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr10:91466600-91506800	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr10:91467600-91538400	Weak transcription	Fetal Heart	heart
12	chr10:91467800-91507200	Weak transcription	Fetal Brain Male	brain
13	chr10:91468800-91506600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr10:91469600-91523600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr10:91470200-91505800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr10:91472600-91530200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr10:91473800-91505800	Weak transcription	Liver	Liver
18	chr10:91474600-91530200	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr10:91476000-91522400	Weak transcription	Placenta	Placenta
20	chr10:91476400-91508000	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr10:91478400-91524200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr10:91478400-91542400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr10:91479600-91510200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr10:91479600-91522400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr10:91480800-91542200	Weak transcription	Fetal Kidney	kidney
26	chr10:91483200-91523600	Weak transcription	Brain Hippocampus Middle	brain
27	chr10:91485000-91532600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr10:91487600-91505800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr10:91488600-91505800	Weak transcription	Fetal Intestine Small	intestine
30	chr10:91489800-91520400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr10:91492000-91522000	Weak transcription	Adipose Nuclei	Adipose
32	chr10:91493800-91508600	Strong transcription	Fetal Thymus	thymus
33	chr10:91495800-91506800	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr10:91495800-91507000	Strong transcription	Dnd41	blood
35	chr10:91496200-91508600	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr10:91496400-91506600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr10:91498400-91518200	Weak transcription	K562	blood
38	chr10:91498800-91506200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr10:91499000-91505800	Weak transcription	HMEC	breast
40	chr10:91499200-91518000	Weak transcription	NHDF-Ad	bronchial
41	chr10:91499800-91506600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr10:91499800-91515600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr10:91500200-91510200	Weak transcription	HUVEC	blood vessel
44	chr10:91501200-91507000	Strong transcription	Hela-S3	cervix
45	chr10:91501600-91506800	Strong transcription	GM12878-XiMat	blood
46	chr10:91503000-91506600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr10:91503400-91506200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr10:91503400-91506600	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr10:91503600-91506800	Strong transcription	Primary T helper cells PMA-I stimulated	--
50	chr10:91503800-91506600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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