Variant report

Variant	rs929115
Chromosome Location	chr1:171591189-171591190
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10913371	0.89[YRI][hapmap]
rs10913372	0.84[YRI][hapmap]
rs10913374	0.89[YRI][hapmap]
rs12075365	0.89[YRI][hapmap]
rs12082110	0.84[YRI][hapmap]
rs235853	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs235856	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs235857	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs235860	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs235875	0.81[CHB][hapmap];0.81[CHD][hapmap]
rs6698607	0.89[YRI][hapmap]
rs7529021	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	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
3	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
4	esv12447	chr1:171556291-171726822	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv999578	chr1:171578076-171610740	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
6	nsv528322	chr1:171578532-171612267	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
7	nsv548191	chr1:171578532-171612267	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs929115	POU2F1	cis	parietal	SCAN
rs929115	DUSP27	cis	parietal	SCAN
rs929115	TADA1	cis	cerebellum	SCAN
rs929115	C1orf112	cis	cerebellum	SCAN
rs929115	ATP1B1	cis	parietal	SCAN
rs929115	BRP44	cis	parietal	SCAN

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171589000-171591200	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr1:171590200-171591600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr1:171591000-171591400	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr1:171591000-171591600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
5	chr1:171591000-171591800	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr1:171591000-171591800	Enhancers	K562	blood
7	chr1:171591000-171592000	Enhancers	ES-I3 Cell Line	embryonic stem cell

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