Variant report

Variant	rs12065850
Chromosome Location	chr1:171849688-171849689
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10913953	0.83[AFR][1000 genomes]
rs10913955	1.00[AFR][1000 genomes]
rs12065857	0.83[AFR][1000 genomes]
rs12073636	1.00[AFR][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	esv3512995	chr1:171329123-171994470	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	esv3512997	chr1:171329123-171994470	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv831893	chr1:171802450-171985000	Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171828400-171850800	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr1:171844400-171858200	Weak transcription	Left Ventricle	heart
3	chr1:171846800-171850600	Weak transcription	Fetal Intestine Small	intestine
4	chr1:171847000-171850600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr1:171847000-171850600	Weak transcription	HSMMtube	muscle
6	chr1:171847200-171850600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr1:171847600-171850400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr1:171847800-171853600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:171848800-171849800	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr1:171849000-171849800	Enhancers	Brain Anterior Caudate	brain
11	chr1:171849200-171850600	Weak transcription	Brain Angular Gyrus	brain
12	chr1:171849400-171850600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr1:171849400-171850600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr1:171849400-171850600	Weak transcription	Brain Substantia Nigra	brain
15	chr1:171849600-171850600	Weak transcription	Brain Hippocampus Middle	brain

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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