Variant report

Variant	rs12433933
Chromosome Location	chr14:21128336-21128337
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:21128311..21128853-chr14:21158987..21159697,3	MCF-7	breast:
2	chr14:21127873..21132994-chr14:21148256..21153568,11	MCF-7	breast:
3	chr14:21126940..21128460-chr14:21149474..21151016,2	K562	blood:
4	chr14:21123860..21132198-chr14:21147469..21155122,16	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259171	Chromatin interaction
ENSG00000199461	Chromatin interaction
ENSG00000258818	Chromatin interaction
ENSG00000214274	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10498272	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12431728	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12431961	1.00[CEU][hapmap];0.91[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12433832	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12437235	0.80[CEU][hapmap];0.86[EUR][1000 genomes]
rs59621901	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6571333	0.93[JPT][hapmap];0.81[ASN][1000 genomes]
rs750142	0.81[CHD][hapmap];0.93[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043923	chr14:20338742-21336425	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
2	nsv541970	chr14:20338742-21336425	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats 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 target site	203 gene(s)	inside rSNPs	diseases
3	esv21015	chr14:20800765-21257878	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
4	nsv901468	chr14:20997221-21149785	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv1051489	chr14:21026592-21214763	Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
6	nsv1203	chr14:21120868-21166077	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	nsv1045004	chr14:21124345-21180397	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
8	nsv541975	chr14:21124345-21180397	Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12433933	OXA1L	cis	cerebellum	SCAN
rs12433933	NDRG2	cis	cerebellum	SCAN

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:21122200-21129400	Weak transcription	GM12878-XiMat	blood
2	chr14:21125200-21131400	Enhancers	Fetal Intestine Small	intestine
3	chr14:21125600-21128600	Enhancers	Fetal Intestine Large	intestine
4	chr14:21126000-21131000	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr14:21126000-21131200	Weak transcription	Pancreas	Pancrea
6	chr14:21126000-21131400	Weak transcription	Right Atrium	heart
7	chr14:21126000-21131400	Weak transcription	Spleen	Spleen
8	chr14:21126600-21130800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr14:21126600-21131400	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr14:21126800-21129200	Weak transcription	HMEC	breast
11	chr14:21126800-21131000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr14:21126800-21131000	Weak transcription	A549	lung
13	chr14:21126800-21131200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr14:21126800-21131400	Weak transcription	Gastric	stomach
15	chr14:21127800-21131000	Enhancers	HepG2	liver
16	chr14:21128000-21129200	Active TSS	H9 Cell Line	embryonic stem cell
17	chr14:21128200-21128400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr14:21128200-21128600	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr14:21128200-21128800	Active TSS	H1 Cell Line	embryonic stem cell
20	chr14:21128200-21128800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
21	chr14:21128200-21129400	Weak transcription	Duodenum Mucosa	Duodenum

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