Variant report

Variant	rs2512038
Chromosome Location	chr8:98979307-98979308
allele	A/C
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]
rs2444865	1.00[AMR][1000 genomes]
rs2447510	1.00[AMR][1000 genomes]
rs2512029	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	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
4	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
5	nsv528695	chr8:98960813-99022009	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:98965000-98980200	Weak transcription	Liver	Liver
2	chr8:98965600-98983200	Weak transcription	NHLF	lung
3	chr8:98968200-98993800	Weak transcription	Esophagus	oesophagus
4	chr8:98969200-98979800	Weak transcription	Fetal Intestine Small	intestine
5	chr8:98969800-98982600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr8:98970000-98984800	Weak transcription	Fetal Kidney	kidney
7	chr8:98970000-98985200	Weak transcription	Brain Angular Gyrus	brain
8	chr8:98970000-98992200	Weak transcription	Brain Hippocampus Middle	brain
9	chr8:98970200-98984800	Weak transcription	Brain Substantia Nigra	brain
10	chr8:98971200-98982400	Weak transcription	Left Ventricle	heart
11	chr8:98971400-98982000	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr8:98971600-98980200	Weak transcription	Adipose Nuclei	Adipose
13	chr8:98973400-98982200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr8:98973600-98981000	Strong transcription	Fetal Muscle Trunk	muscle
15	chr8:98974400-98982200	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr8:98974400-98991200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr8:98974800-98979400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr8:98974800-98979800	Weak transcription	Ovary	ovary
19	chr8:98974800-98980200	Weak transcription	Duodenum Mucosa	Duodenum
20	chr8:98974800-98983200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr8:98975200-98982000	Weak transcription	Stomach Smooth Muscle	stomach
22	chr8:98976200-98996200	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr8:98976600-98979800	Weak transcription	Fetal Stomach	stomach
24	chr8:98977600-98982400	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr8:98978600-98980000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
26	chr8:98979000-98979800	Strong transcription	Fetal Muscle Leg	muscle

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