Variant report

Variant	rs4886697
Chromosome Location	chr15:75673209-75673210
allele	A/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	SPI1	chr15:75673201-75673468	GM12891	blood:	n/a	chr15:75673328-75673337
2	SPI1	chr15:75672867-75673681	GM12878	blood:	n/a	chr15:75673328-75673337
3	SPI1	chr15:75673147-75673460	GM12878	blood:	n/a	chr15:75673328-75673337

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:75673195..75675877-chr15:75743620..75745869,3	MCF-7	breast:
2	chr15:75671213..75673361-chr15:75743963..75746267,3	MCF-7	breast:

Variant related genes	Relation type
SIN3A	TF binding region
ENSG00000169375	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12591076	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12591309	0.92[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12591954	1.00[EUR][1000 genomes]
rs12592026	1.00[EUR][1000 genomes]
rs12592505	1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12593372	1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12593870	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12594013	0.92[CHB][hapmap];0.89[JPT][hapmap]
rs12594671	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28372857	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34234047	0.87[ASN][1000 genomes]
rs3803466	0.84[CHB][hapmap];1.00[MKK][hapmap]
rs4886434	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4886435	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4886445	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4886685	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4886686	0.84[ASN][1000 genomes]
rs4886689	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4886701	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8032031	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8035510	1.00[EUR][1000 genomes]
rs8035796	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9788768	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039713	chr15:75394213-75674389	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	nsv482859	chr15:75493899-75688451	Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
3	nsv1035829	chr15:75504534-75692417	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	nsv531901	chr15:75600108-76019966	Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
5	esv3445070	chr15:75623136-76045948	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
6	nsv530345	chr15:75628556-75951011	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
7	nsv1048028	chr15:75637515-76019967	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	161 gene(s)	inside rSNPs	diseases
8	nsv542436	chr15:75637515-76019967	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	161 gene(s)	inside rSNPs	diseases
9	nsv904386	chr15:75655819-75673209	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	n/a
10	nsv525265	chr15:75670079-75692303	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75661600-75682200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr15:75662200-75677600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr15:75662200-75699200	Strong transcription	Fetal Stomach	stomach
4	chr15:75662200-75715600	Strong transcription	Placenta	Placenta
5	chr15:75662400-75678800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr15:75662400-75707600	Strong transcription	Primary T helper cells PMA-I stimulated	--
7	chr15:75662400-75717000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr15:75662400-75731400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr15:75662600-75678600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr15:75662600-75695000	Strong transcription	Rectal Mucosa Donor 29	rectum
11	chr15:75662600-75707400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr15:75662600-75708000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr15:75662600-75708000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr15:75662600-75708600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr15:75662600-75722800	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr15:75662800-75682000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr15:75662800-75709400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr15:75662800-75723000	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr15:75663000-75690400	Strong transcription	Hela-S3	cervix
20	chr15:75663000-75695200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr15:75663000-75707800	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr15:75663000-75708000	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr15:75663000-75708200	Strong transcription	Fetal Thymus	thymus
24	chr15:75663000-75708600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr15:75663000-75709400	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr15:75663000-75710000	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr15:75663200-75674400	Strong transcription	A549	lung
28	chr15:75663200-75683200	Strong transcription	Adipose Nuclei	Adipose
29	chr15:75663200-75689000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr15:75663200-75699600	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr15:75663200-75706600	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr15:75663200-75707800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
33	chr15:75663200-75707800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr15:75663400-75673400	Strong transcription	Duodenum Mucosa	Duodenum
35	chr15:75663400-75674400	Strong transcription	HepG2	liver
36	chr15:75663400-75675400	Strong transcription	Primary hematopoietic stem cells	blood
37	chr15:75663400-75677000	Strong transcription	Duodenum Smooth Muscle	Duodenum
38	chr15:75663400-75682000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr15:75663400-75683400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr15:75663400-75695400	Strong transcription	Skeletal Muscle Female	skeletal muscle
41	chr15:75663400-75696600	Strong transcription	Stomach Smooth Muscle	stomach
42	chr15:75663400-75707200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr15:75663400-75713000	Strong transcription	Thymus	Thymus
44	chr15:75663600-75674400	Strong transcription	Brain Germinal Matrix	brain
45	chr15:75663600-75676600	Strong transcription	Brain Inferior Temporal Lobe	brain
46	chr15:75663600-75682800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr15:75663600-75689400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr15:75663600-75705600	Strong transcription	Left Ventricle	heart
49	chr15:75663600-75705600	Strong transcription	Sigmoid Colon	Sigmoid Colon
50	chr15:75663600-75706400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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