Variant report

Variant	rs9332551
Chromosome Location	chr1:169537302-169537303
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs2228672	1.00[AMR][1000 genomes]
rs3917725	1.00[AMR][1000 genomes]
rs3917746	1.00[AMR][1000 genomes]
rs3917758	1.00[AMR][1000 genomes]
rs3917791	1.00[AMR][1000 genomes]
rs3917798	1.00[AMR][1000 genomes]
rs3917808	1.00[AMR][1000 genomes]
rs3917809	1.00[AMR][1000 genomes]
rs3917822	1.00[AMR][1000 genomes]
rs3917825	1.00[AMR][1000 genomes]
rs3917829	1.00[AMR][1000 genomes]
rs74121678	1.00[AMR][1000 genomes]
rs74121680	1.00[AMR][1000 genomes]
rs9332481	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9332484	1.00[AMR][1000 genomes]
rs9332487	1.00[AMR][1000 genomes]
rs9332495	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9332512	1.00[AMR][1000 genomes]
rs9332521	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv10418	chr1:169059628-169621268	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv548187	chr1:169530837-169559035	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv872534	chr1:169533266-169561274	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv872535	chr1:169535918-169538842	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169506200-169542800	Weak transcription	Right Ventricle	heart
2	chr1:169524600-169541800	Weak transcription	Placenta	Placenta
3	chr1:169530200-169539000	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr1:169533200-169551600	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr1:169533400-169544600	Enhancers	Stomach Mucosa	stomach
6	chr1:169534000-169541400	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr1:169534600-169537400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:169534800-169538800	Enhancers	Liver	Liver
9	chr1:169535400-169540200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr1:169535600-169538000	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr1:169535600-169539400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr1:169535800-169541600	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr1:169536000-169539000	Weak transcription	Duodenum Mucosa	Duodenum
14	chr1:169536400-169540400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr1:169536400-169543600	Weak transcription	Left Ventricle	heart
16	chr1:169537000-169538400	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr1:169537000-169539000	Enhancers	HepG2	liver

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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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