Variant report

Variant	rs17287775
Chromosome Location	chr8:48890157-48890158
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:48889673-48890386	GM12892	blood:	n/a	n/a
2	POLR2A	chr8:48890076-48890255	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr8:48889889-48890320	GM12891	blood:	n/a	n/a
4	POLR2A	chr8:48889822-48890503	PFSK-1	brain:	n/a	n/a
5	POLR2A	chr8:48889819-48890340	GM12892	blood:	n/a	n/a
6	POLR2A	chr8:48889837-48890403	SK-N-MC	brain:	n/a	n/a
7	POLR2A	chr8:48889802-48890360	GM12892	blood:	n/a	n/a
8	POLR2A	chr8:48889803-48890263	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr8:48889714-48890386	HL-60	blood:	n/a	n/a
10	POLR2A	chr8:48889790-48890618	HepG2	liver:	n/a	n/a
11	POLR2A	chr8:48890042-48890327	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr8:48889832-48890556	K562	blood:	n/a	n/a
13	POLR2A	chr8:48889840-48890330	K562	blood:	n/a	n/a
14	POLR2A	chr8:48889788-48890353	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr8:48890032-48890262	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr8:48889808-48890261	K562	blood:	n/a	n/a
17	POLR2A	chr8:48889787-48890249	GM12891	blood:	n/a	n/a
18	POLR2A	chr8:48889782-48890202	GM12892	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:48854376..48857161-chr8:48889369..48891262,2	MCF-7	breast:
2	chr8:48873884..48879338-chr8:48885468..48891171,6	MCF-7	breast:
3	chr8:48873449..48876076-chr8:48887828..48890421,3	MCF-7	breast:

No data

Variant related genes	Relation type
RNU6-519P	TF binding region
ENSG00000104738	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs8178115	1.00[AFR][1000 genomes]
rs8178189	1.00[AFR][1000 genomes]
rs8178198	1.00[AFR][1000 genomes]
rs8178205	1.00[AFR][1000 genomes]

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	nsv931032	chr8:48744329-49091359	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv2758156	chr8:48788293-49008014	Strong transcription Active TSS Genic enhancers Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	esv2759611	chr8:48788293-49008014	Strong transcription Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv427820	chr8:48788293-49008014	Strong transcription Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv831309	chr8:48815290-48977856	Strong transcription Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv1033760	chr8:48852925-48961374	Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv1020619	chr8:48871586-48932988	Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv1032750	chr8:48877179-48924828	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48874600-48891600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr8:48874600-48891800	Weak transcription	Colon Smooth Muscle	Colon
3	chr8:48874800-48890400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr8:48874800-48890800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
5	chr8:48874800-48890800	Strong transcription	Placenta	Placenta
6	chr8:48874800-48905800	Weak transcription	Stomach Mucosa	stomach
7	chr8:48875000-48890200	Strong transcription	HSMM	muscle
8	chr8:48875000-48891400	Strong transcription	H1 Cell Line	embryonic stem cell
9	chr8:48875000-48891400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr8:48875000-48891400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr8:48875000-48891600	Strong transcription	H9 Cell Line	embryonic stem cell
12	chr8:48875000-48891600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr8:48875000-48891600	Strong transcription	Fetal Stomach	stomach
14	chr8:48875000-48891800	Strong transcription	Fetal Intestine Small	intestine
15	chr8:48875000-48892200	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr8:48875000-48892600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr8:48875000-48898800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr8:48875200-48890400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr8:48875200-48890600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr8:48875200-48891600	Strong transcription	Cortex derived primary cultured neurospheres	brain
21	chr8:48875200-48892000	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr8:48875200-48892200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
23	chr8:48875200-48892600	Strong transcription	Fetal Thymus	thymus
24	chr8:48875400-48890600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr8:48875400-48890800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr8:48875400-48890800	Strong transcription	Skeletal Muscle Female	skeletal muscle
27	chr8:48875400-48890800	Strong transcription	HMEC	breast
28	chr8:48875400-48891800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr8:48875400-48892000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr8:48875400-48892200	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr8:48875400-48892200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr8:48875600-48890400	Strong transcription	Duodenum Smooth Muscle	Duodenum
33	chr8:48875600-48891600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr8:48875600-48892000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr8:48875600-48892200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr8:48875800-48890200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr8:48875800-48890200	Strong transcription	HUVEC	blood vessel
38	chr8:48875800-48890400	Strong transcription	Liver	Liver
39	chr8:48875800-48890400	Strong transcription	Brain Germinal Matrix	brain
40	chr8:48875800-48890400	Strong transcription	Fetal Intestine Large	intestine
41	chr8:48875800-48890600	Strong transcription	A549	lung
42	chr8:48876000-48891600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr8:48876000-48892800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr8:48876200-48891800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr8:48876800-48890200	Strong transcription	Skeletal Muscle Male	skeletal muscle
46	chr8:48876800-48890400	Strong transcription	Fetal Lung	lung
47	chr8:48877000-48890800	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr8:48877000-48891400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr8:48877200-48890400	Strong transcription	Brain Inferior Temporal Lobe	brain
50	chr8:48877600-48890200	Strong transcription	Primary monocytes fromperipheralblood	blood

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