Variant report

Variant	rs9325998
Chromosome Location	chr1:150017635-150017636
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:149856755..149861735-chr1:150014773..150024288,21	MCF-7	breast:
2	chr1:149984937..149987085-chr1:150017568..150019929,2	MCF-7	breast:
3	chr1:149943671..149946306-chr1:150017241..150019364,2	MCF-7	breast:
4	chr1:150011021..150013684-chr1:150016711..150019672,2	MCF-7	breast:
5	chr1:150013902..150015822-chr1:150017587..150020723,3	K562	blood:
6	chr1:149855348..149862315-chr1:150015478..150024375,18	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-VPS45-4	chr1:150017290-150018641	NONHSAT006266

No data

No data

Variant related genes	Relation type
ENSG00000178096	Chromatin interaction
ENSG00000184270	Chromatin interaction
ENSG00000184678	Chromatin interaction
ENSG00000184260	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10749675	1.00[AMR][1000 genomes]
rs10888570	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11205334	1.00[AMR][1000 genomes]
rs1531578	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1531579	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1531580	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2127135	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2319280	0.89[AFR][1000 genomes]
rs3904949	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4926404	1.00[AMR][1000 genomes]
rs4926410	1.00[AMR][1000 genomes]
rs6587749	0.86[AFR][1000 genomes]
rs6587750	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6694224	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7518829	0.86[AFR][1000 genomes];1.00[AMR][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	nsv831537	chr1:149833357-150064655	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	431 gene(s)	inside rSNPs	diseases
2	nsv529719	chr1:150006344-150311095	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
3	nsv947321	chr1:150007387-150030042	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:149985600-150022000	Weak transcription	Brain Substantia Nigra	brain
2	chr1:149996600-150037000	Weak transcription	Left Ventricle	heart
3	chr1:150003800-150022400	Weak transcription	Fetal Intestine Small	intestine
4	chr1:150006600-150022400	Weak transcription	Brain Hippocampus Middle	brain
5	chr1:150016800-150024000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:150017600-150018400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:150017600-150022400	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr1:150017600-150026200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr1:150017600-150037600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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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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