Variant report

Variant	rs832741
Chromosome Location	chr12:47589998-47589999
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:47583159..47586380-chr12:47586604..47590176,3	MCF-7	breast:
2	chr12:47572847..47576069-chr12:47588827..47592378,3	K562	blood:
3	chr12:47588311..47590826-chr12:47591836..47593826,2	K562	blood:

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

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

rs_ID	r²[population]
rs10736032	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10748464	0.82[JPT][hapmap]
rs10785666	0.80[JPT][hapmap]
rs10785668	0.81[CEU][hapmap]
rs10881074	0.87[JPT][hapmap]
rs214711	0.84[JPT][hapmap]
rs2524344	0.83[JPT][hapmap]
rs4768783	0.85[CEU][hapmap];0.88[GIH][hapmap];0.89[JPT][hapmap];0.84[MEX][hapmap];0.85[TSI][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs832726	0.94[JPT][hapmap];0.84[MEX][hapmap]
rs832733	0.80[CEU][hapmap];0.88[JPT][hapmap];0.82[ASN][1000 genomes]
rs832737	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs866881	0.84[JPT][hapmap]

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	nsv469368	chr12:47374908-47675680	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv558784	chr12:47374908-47675680	Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv832399	chr12:47502910-47689601	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	esv2751100	chr12:47541390-47746157	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs832741	C12orf68	cis	cerebellum	SCAN

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47581800-47594000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
2	chr12:47583200-47628600	Weak transcription	Aorta	Aorta
3	chr12:47584000-47600600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr12:47584800-47597200	Weak transcription	Primary B cells from cord blood	blood
5	chr12:47584800-47605800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:47585400-47590200	Enhancers	A549	lung
7	chr12:47585400-47592800	Weak transcription	NHEK	skin
8	chr12:47585400-47600400	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr12:47585600-47599800	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr12:47585800-47601000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr12:47586000-47590400	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr12:47586200-47590200	Enhancers	Primary T cells from cord blood	blood
13	chr12:47587400-47590200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr12:47587600-47590200	Enhancers	Primary T killer memory cells from peripheral blood	blood
15	chr12:47587800-47590400	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr12:47587800-47590400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr12:47588000-47592000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr12:47588200-47599600	Weak transcription	Fetal Thymus	thymus
19	chr12:47588600-47597800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr12:47588600-47599800	Weak transcription	Spleen	Spleen
21	chr12:47589200-47590200	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr12:47589200-47591600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr12:47589400-47591800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr12:47589400-47598400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr12:47589600-47593000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr12:47589600-47597200	Weak transcription	Primary B cells from peripheral blood	blood
27	chr12:47589600-47599200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr12:47589800-47590000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--

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