Variant report

Variant	rs12541990
Chromosome Location	chr8:95809165-95809166
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10095896	0.96[CEU][hapmap];0.80[CHB][hapmap];0.89[JPT][hapmap];0.92[EUR][1000 genomes]
rs10956931	0.82[CEU][hapmap]
rs12543503	0.83[CEU][hapmap];0.88[JPT][hapmap]
rs12546825	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12547930	0.95[CEU][hapmap];0.88[EUR][1000 genomes]
rs12547969	0.85[EUR][1000 genomes]
rs12550765	0.82[CEU][hapmap]
rs13258377	0.85[EUR][1000 genomes]
rs13259064	0.88[EUR][1000 genomes]
rs17718793	0.81[CEU][hapmap]
rs35184808	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4735322	0.86[EUR][1000 genomes]
rs4735324	0.96[CEU][hapmap];0.86[EUR][1000 genomes]
rs6471497	0.83[CEU][hapmap]
rs66831269	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7813205	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7820818	0.83[CEU][hapmap]
rs7824039	0.94[EUR][1000 genomes]
rs7826057	0.96[CEU][hapmap];0.90[EUR][1000 genomes]
rs7844431	1.00[CEU][hapmap];0.90[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	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv532338	chr8:95296118-95971825	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95733600-95809400	Weak transcription	Rectal Smooth Muscle	rectum
2	chr8:95752400-95809200	Weak transcription	NHLF	lung
3	chr8:95773600-95809400	Weak transcription	HSMMtube	muscle
4	chr8:95785000-95809800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr8:95785800-95809200	Weak transcription	Colon Smooth Muscle	Colon
6	chr8:95786200-95811600	Weak transcription	Spleen	Spleen
7	chr8:95786200-95812800	Weak transcription	Gastric	stomach
8	chr8:95786400-95809600	Weak transcription	Lung	lung
9	chr8:95791200-95809600	Weak transcription	Brain Angular Gyrus	brain
10	chr8:95791400-95809800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr8:95791400-95812400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr8:95791600-95809600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr8:95792000-95811600	Weak transcription	Thymus	Thymus
14	chr8:95792200-95809800	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr8:95794000-95809400	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr8:95794000-95809600	Weak transcription	Brain Hippocampus Middle	brain
17	chr8:95794200-95809800	Weak transcription	K562	blood
18	chr8:95794800-95809200	Weak transcription	Fetal Kidney	kidney
19	chr8:95794800-95809400	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr8:95794800-95809400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr8:95794800-95809400	Weak transcription	HMEC	breast
22	chr8:95794800-95809400	Weak transcription	NH-A	brain
23	chr8:95797800-95809200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr8:95798000-95809600	Weak transcription	Adipose Nuclei	Adipose
25	chr8:95798000-95810600	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr8:95798000-95810600	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr8:95799200-95814400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr8:95799400-95809400	Weak transcription	Fetal Stomach	stomach
29	chr8:95799600-95809200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr8:95799600-95809400	Weak transcription	Fetal Muscle Leg	muscle
31	chr8:95799600-95809600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr8:95799800-95809800	Weak transcription	Ovary	ovary
33	chr8:95799800-95811400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr8:95801400-95809200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr8:95801800-95809400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr8:95801800-95809600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr8:95802200-95809600	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr8:95802400-95809600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr8:95802400-95809600	Weak transcription	Fetal Intestine Large	intestine
40	chr8:95802400-95809600	Weak transcription	Stomach Smooth Muscle	stomach
41	chr8:95802600-95809200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr8:95802600-95809200	Weak transcription	NHDF-Ad	bronchial
43	chr8:95802600-95809400	Weak transcription	Fetal Lung	lung
44	chr8:95803400-95809600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr8:95804000-95809600	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr8:95804200-95809200	Weak transcription	HSMM	muscle
47	chr8:95804400-95809200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr8:95804400-95809200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr8:95804400-95809600	Weak transcription	Placenta	Placenta
50	chr8:95806800-95809800	Weak transcription	Aorta	Aorta

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