Variant report

Variant	rs12093397
Chromosome Location	chr1:171830174-171830175
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10913843	1.00[AFR][1000 genomes]
rs10913896	1.00[AFR][1000 genomes]
rs10913898	1.00[AFR][1000 genomes]
rs10913953	0.90[AFR][1000 genomes]
rs12065857	0.90[AFR][1000 genomes]
rs12087423	0.90[AFR][1000 genomes]
rs12089309	0.90[AFR][1000 genomes]
rs12093518	1.00[AFR][1000 genomes]
rs28411002	1.00[AFR][1000 genomes]
rs7527401	1.00[AFR][1000 genomes]
rs7554281	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:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171812200-171833200	Weak transcription	Brain Germinal Matrix	brain
2	chr1:171814600-171833400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:171819600-171832800	Weak transcription	Left Ventricle	heart
4	chr1:171820200-171832600	Weak transcription	Brain Anterior Caudate	brain
5	chr1:171822200-171832800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr1:171822400-171832200	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr1:171825800-171832800	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr1:171827200-171832800	Weak transcription	Brain Substantia Nigra	brain
9	chr1:171827600-171837200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:171827800-171832600	Weak transcription	Brain Hippocampus Middle	brain
11	chr1:171828400-171832800	Weak transcription	Brain Angular Gyrus	brain
12	chr1:171828400-171832800	Weak transcription	Brain Cingulate Gyrus	brain
13	chr1:171828400-171850800	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr1:171828800-171832400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr1:171829600-171830200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:171829600-171830600	Enhancers	NHEK	skin
17	chr1:171829800-171830200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:171829800-171830400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr1:171829800-171830400	Enhancers	HMEC	breast

Quick Search:

Input of quick search could be:

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

what's new

Quick links