Variant report

Variant	rs2444865
Chromosome Location	chr8:98918984-98918985
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2447510	1.00[AMR][1000 genomes]
rs2512029	1.00[AMR][1000 genomes]
rs2512038	1.00[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	nsv1032904	chr8:98756076-99476925	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv539687	chr8:98756076-99476925	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv1028055	chr8:98780445-98977746	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv891214	chr8:98849303-98990399	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv891215	chr8:98910287-98980663	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:98903600-98924200	Weak transcription	Fetal Kidney	kidney
2	chr8:98904000-98927600	Weak transcription	Esophagus	oesophagus
3	chr8:98910000-98921200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr8:98913400-98923200	Weak transcription	Fetal Muscle Trunk	muscle
5	chr8:98914000-98924200	Weak transcription	Fetal Lung	lung
6	chr8:98915000-98923400	Enhancers	Placenta Amnion	Placenta Amnion
7	chr8:98915400-98921200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr8:98915600-98919000	Enhancers	Liver	Liver
9	chr8:98916200-98921800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr8:98916800-98924000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr8:98917000-98921400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:98917600-98919200	Enhancers	Adipose Nuclei	Adipose
13	chr8:98917800-98919200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr8:98918000-98919200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr8:98918000-98922000	Enhancers	Fetal Muscle Leg	muscle
16	chr8:98918200-98919000	Enhancers	Brain Inferior Temporal Lobe	brain
17	chr8:98918200-98919200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr8:98918200-98919200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr8:98918200-98919200	Enhancers	Brain Angular Gyrus	brain
20	chr8:98918200-98919200	Enhancers	NHDF-Ad	bronchial
21	chr8:98918200-98919200	Enhancers	Osteobl	bone
22	chr8:98918200-98919600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr8:98918200-98922200	Enhancers	NHLF	lung
24	chr8:98918400-98919000	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr8:98918400-98919200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr8:98918400-98919200	Enhancers	Muscle Satellite Cultured Cells	--
27	chr8:98918400-98919200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr8:98918400-98919200	Enhancers	Brain Hippocampus Middle	brain
29	chr8:98918400-98919200	Enhancers	Brain Substantia Nigra	brain
30	chr8:98918400-98919200	Enhancers	Fetal Stomach	stomach
31	chr8:98918400-98919200	Enhancers	HSMM	muscle
32	chr8:98918400-98919200	Enhancers	HSMMtube	muscle
33	chr8:98918400-98919200	Enhancers	NH-A	brain
34	chr8:98918600-98919000	Enhancers	Brain Anterior Caudate	brain
35	chr8:98918600-98919000	Enhancers	Ovary	ovary
36	chr8:98918600-98919000	Enhancers	Rectal Smooth Muscle	rectum
37	chr8:98918600-98919200	Enhancers	Brain Cingulate Gyrus	brain
38	chr8:98918800-98919000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr8:98918800-98919000	Enhancers	Duodenum Mucosa	Duodenum
40	chr8:98918800-98919200	Enhancers	Duodenum Smooth Muscle	Duodenum
41	chr8:98918800-98919200	Enhancers	Right Atrium	heart

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