Variant report

Variant	rs855147
Chromosome Location	chr12:47640438-47640439
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:47616759..47619382-chr12:47639689..47641331,2	MCF-7	breast:
2	chr12:47474456..47476643-chr12:47638235..47640593,2	MCF-7	breast:
3	chr12:47638824..47640995-chr12:47669800..47672022,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000179715	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11183779	1.00[CHB][hapmap]
rs11183783	1.00[CHB][hapmap]
rs11183795	1.00[CHB][hapmap]
rs12370622	1.00[CHB][hapmap]
rs1554693	1.00[CHB][hapmap]
rs17821774	1.00[CHB][hapmap]
rs2111903	1.00[CHB][hapmap]
rs214660	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs214661	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2408718	1.00[CHB][hapmap]
rs4768782	1.00[CHB][hapmap]
rs55835639	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs712100	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7974410	1.00[CHB][hapmap]
rs855141	1.00[CEU][hapmap];0.86[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs855142	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs855143	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs855144	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs855145	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs855146	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs855149	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs855151	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs855153	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs855154	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs873935	1.00[CHB][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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs855147	FKBP11	cis	cerebellum	SCAN
rs855147	TMEM106C	cis	parietal	SCAN
rs855147	PLOD2	trans	parietal	SCAN
rs855147	FAM113B	cis	parietal	SCAN

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:47619000-47643600	Weak transcription	Pancreas	Pancrea
2	chr12:47629200-47643000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:47629400-47641200	Weak transcription	Aorta	Aorta
4	chr12:47630400-47644000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr12:47630400-47653600	Weak transcription	Primary B cells from cord blood	blood
6	chr12:47631600-47643000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr12:47632000-47643000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr12:47632600-47644600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr12:47632600-47646000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr12:47633200-47641200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:47633200-47653800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr12:47633400-47643200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr12:47636200-47653400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr12:47636400-47642600	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr12:47636400-47643000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr12:47636600-47641200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr12:47636600-47641200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr12:47636600-47641200	Weak transcription	NHEK	skin
19	chr12:47636600-47642400	Weak transcription	Primary B cells from peripheral blood	blood
20	chr12:47636600-47642400	Weak transcription	Primary T cells from cord blood	blood
21	chr12:47636600-47642400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr12:47636600-47642400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr12:47636600-47642600	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr12:47636600-47643800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr12:47636600-47647000	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr12:47639400-47643400	Weak transcription	Fetal Intestine Large	intestine
27	chr12:47639600-47642200	Weak transcription	K562	blood
28	chr12:47639800-47643800	Weak transcription	Spleen	Spleen
29	chr12:47640000-47641200	Weak transcription	Stomach Mucosa	stomach
30	chr12:47640400-47641000	Weak transcription	A549	lung

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