Variant report

Variant	rs12101581
Chromosome Location	chr15:93355844-93355845
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HCFC1	chr15:93350713-93356004	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr15:93351286-93355878	MCF10A-Er-Src	breast:	n/a	n/a
3	MYC	chr15:93355660-93355844	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr15:93351229-93355921	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:93337836..93370220-chr15:93420085..93452591,332	K562	blood:
2	chr15:93344712..93371031-chr15:93418700..93467618,365	MCF-7	breast:
3	chr15:93345383..93371459-chr15:93416796..93454653,318	MCF-7	breast:
4	chr15:93354049..93356255-chr15:93397954..93400757,2	K562	blood:
5	chr15:93333327..93367027-chr15:93419774..93462750,363	K562	blood:

Variant related genes	Relation type
FAM174B	TF binding region
ENSG00000258922	TF binding region
ENSG00000264173	Chromatin interaction
ENSG00000264123	Chromatin interaction
ENSG00000173575	Chromatin interaction
ENSG00000272888	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12101782	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12102230	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28455137	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs28549279	1.00[EUR][1000 genomes]
rs28602250	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv904499	chr15:92914795-93472582	Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	163 gene(s)	inside rSNPs	diseases
2	nsv948738	chr15:93070742-93728147	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
3	nsv1049490	chr15:93134405-93591660	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS 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	151 gene(s)	inside rSNPs	diseases
4	nsv1042292	chr15:93286333-93374887	Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
5	nsv984199	chr15:93288362-93381522	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
6	nsv530846	chr15:93323949-94030462	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	153 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:93351600-93356000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr15:93353000-93363800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr15:93353200-93361200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr15:93353400-93361800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr15:93353400-93362000	Weak transcription	Lung	lung
6	chr15:93353600-93356000	Enhancers	Placenta	Placenta
7	chr15:93354000-93361000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr15:93354200-93361000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr15:93354400-93356400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr15:93354400-93356400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
11	chr15:93354400-93356400	Weak transcription	Dnd41	blood
12	chr15:93354400-93356800	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr15:93354400-93356800	Enhancers	Fetal Thymus	thymus
14	chr15:93354400-93357000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr15:93354400-93358000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr15:93354400-93358200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr15:93354400-93358800	Enhancers	Primary T cells fromperipheralblood	blood
18	chr15:93354400-93363200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr15:93354600-93356600	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr15:93354800-93362600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr15:93355000-93356200	Weak transcription	Primary hematopoietic stem cells	blood
22	chr15:93355000-93356400	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr15:93355000-93356800	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr15:93355000-93360400	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr15:93355000-93360600	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr15:93355000-93360800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr15:93355000-93361200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr15:93355000-93361400	Weak transcription	Brain Germinal Matrix	brain
29	chr15:93355000-93361800	Weak transcription	Fetal Muscle Trunk	muscle
30	chr15:93355000-93362400	Weak transcription	Psoas Muscle	Psoas
31	chr15:93355000-93362400	Weak transcription	Stomach Mucosa	stomach
32	chr15:93355200-93356200	Enhancers	Primary T cells from cord blood	blood
33	chr15:93355200-93356400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr15:93355200-93358600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr15:93355200-93359200	Weak transcription	Primary B cells from peripheral blood	blood
36	chr15:93355200-93360200	Weak transcription	Primary B cells from cord blood	blood
37	chr15:93355200-93360600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr15:93355200-93360600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr15:93355200-93360600	Weak transcription	NH-A	brain
40	chr15:93355200-93360800	Weak transcription	Osteobl	bone
41	chr15:93355200-93362600	Weak transcription	Stomach Smooth Muscle	stomach
42	chr15:93355400-93356000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr15:93355400-93357000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr15:93355400-93360600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr15:93355400-93360600	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr15:93355400-93360600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr15:93355400-93360600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr15:93355400-93360600	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr15:93355400-93362000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr15:93355600-93356000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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