Variant report

Variant	rs1889814
Chromosome Location	chr14:66427242-66427243
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1147450	0.81[CHB][hapmap];1.00[LWK][hapmap]
rs4578577	0.80[EUR][1000 genomes]
rs6573644	0.96[ASN][1000 genomes]
rs7158071	0.95[ASN][1000 genomes]
rs7160649	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043943	chr14:65782466-66698411	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
2	nsv542120	chr14:65782466-66698411	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
3	nsv817409	chr14:66220075-66990168	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
4	nsv564953	chr14:66287921-67046960	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	nsv1050485	chr14:66308283-67109270	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
6	nsv530775	chr14:66316836-67079049	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
7	nsv530793	chr14:66317036-67078908	Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
8	nsv1046455	chr14:66345369-66848234	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
9	nsv1043864	chr14:66372458-66845503	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
10	nsv917338	chr14:66376591-66841403	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
11	nsv1313	chr14:66410061-66437297	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1889814	GPX2	cis	cerebellum	SCAN

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:66425200-66427800	Enhancers	Primary T helper cells fromperipheralblood	blood
2	chr14:66425200-66439000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr14:66425400-66427400	Enhancers	Primary T cells from cord blood	blood
4	chr14:66425400-66427800	Enhancers	Primary T cells fromperipheralblood	blood
5	chr14:66425400-66428000	Enhancers	Primary T helper cells PMA-I stimulated	--
6	chr14:66425800-66427600	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr14:66426000-66428400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr14:66426000-66429600	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr14:66426000-66429800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr14:66426000-66439200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr14:66426400-66427600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr14:66426400-66429800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr14:66426600-66427600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr14:66426600-66429600	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr14:66426600-66429600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr14:66427000-66427400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr14:66427000-66427400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr14:66427000-66427400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr14:66427200-66427800	Enhancers	Primary T helper naive cells from peripheral blood	blood

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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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