Variant report

Variant	rs12671866
Chromosome Location	chr7:28005988-28005989
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs192254	0.84[EUR][1000 genomes]
rs253310	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs38500	0.92[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs38504	0.84[CEU][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.85[ASN][1000 genomes]
rs38507	0.81[ASN][1000 genomes]
rs38511	0.80[AMR][1000 genomes]
rs38513	0.94[CEU][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs38514	0.90[CEU][hapmap];0.82[JPT][hapmap]
rs38517	0.84[CEU][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap]
rs6969285	0.90[CEU][hapmap];0.91[CHB][hapmap];0.87[JPT][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72598569	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72598573	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][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	nsv949025	chr7:27578167-28075172	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1030685	chr7:27844038-28177301	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1024819	chr7:27949955-28020969	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27980400-28017200	Weak transcription	Aorta	Aorta
2	chr7:27989600-28006800	Weak transcription	Right Ventricle	heart
3	chr7:27992000-28013400	Weak transcription	Left Ventricle	heart
4	chr7:27995400-28006000	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr7:27998400-28015000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr7:28000600-28006000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr7:28000600-28019400	Weak transcription	Pancreas	Pancrea
8	chr7:28000600-28021600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr7:28001000-28011200	Weak transcription	Brain Substantia Nigra	brain
10	chr7:28001000-28013400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr7:28002200-28011400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr7:28002600-28016800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr7:28002800-28034600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr7:28004400-28006400	Enhancers	NHDF-Ad	bronchial
15	chr7:28004800-28006200	Enhancers	Rectal Smooth Muscle	rectum
16	chr7:28005000-28006000	Weak transcription	Fetal Brain Male	brain
17	chr7:28005000-28006200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr7:28005000-28006600	Enhancers	Colon Smooth Muscle	Colon
19	chr7:28005400-28006000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr7:28005400-28006200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr7:28005400-28006200	Enhancers	Adipose Nuclei	Adipose
22	chr7:28005400-28006400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr7:28005400-28006400	Enhancers	Brain Angular Gyrus	brain
24	chr7:28005400-28006400	Enhancers	Brain Cingulate Gyrus	brain
25	chr7:28005400-28006800	Enhancers	Brain Hippocampus Middle	brain
26	chr7:28005400-28008200	Enhancers	Primary B cells from peripheral blood	blood
27	chr7:28005600-28006000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr7:28005600-28006000	Enhancers	Fetal Brain Female	brain
29	chr7:28005600-28006400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr7:28005600-28007000	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr7:28005800-28007000	Enhancers	Primary B cells from cord blood	blood
32	chr7:28005800-28010600	Weak transcription	Brain Anterior Caudate	brain

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