Variant report

Variant	rs991108
Chromosome Location	chr17:45887142-45887143
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUN	chr17:45886946-45888326	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:45886646..45890466-chr17:45890484..45892825,3	K562	blood:
2	chr17:45886192..45893448-chr17:45896148..45900071,14	MCF-7	breast:
3	chr17:45886165..45887900-chr17:58040783..58043595,2	MCF-7	breast:
4	chr17:45886704..45889293-chr17:45971430..45974398,3	MCF-7	breast:
5	chr17:45886985..45889138-chr17:46015655..46018408,2	K562	blood:
6	chr17:45725747..45727611-chr17:45884252..45887189,2	MCF-7	breast:

No data

Variant related genes	Relation type
OSBPL7	TF binding region
ENSG00000264920	Chromatin interaction
ENSG00000167182	Chromatin interaction
ENSG00000006025	Chromatin interaction
ENSG00000189050	Chromatin interaction
ENSG00000267302	Chromatin interaction
ENSG00000108424	Chromatin interaction
ENSG00000263766	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1008934	0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs1018903	0.89[CHB][hapmap];0.88[JPT][hapmap];0.93[ASN][1000 genomes]
rs12452082	0.83[MEX][hapmap]
rs2074191	0.82[CHD][hapmap];0.82[JPT][hapmap];0.83[MEX][hapmap]
rs35701113	0.82[ASN][1000 genomes]
rs6503871	0.82[JPT][hapmap];0.82[AMR][1000 genomes]
rs7220419	0.82[CHD][hapmap];0.82[JPT][hapmap];0.83[MEX][hapmap]
rs757061	0.83[MEX][hapmap]
rs9907142	0.80[ASW][hapmap];0.83[CHB][hapmap];0.83[CHD][hapmap];0.93[JPT][hapmap];0.94[YRI][hapmap];0.85[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs9914156	0.83[CHB][hapmap];0.93[JPT][hapmap];0.83[ASN][1000 genomes]

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	nsv498122	chr17:45763853-46064327	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv908572	chr17:45858487-45900856	Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv908573	chr17:45858487-45956073	Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv908574	chr17:45876022-45930584	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs991108	ENSG00000006025	cis	multi-tissue	Pritchard

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45881600-45897800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr17:45882000-45887200	Weak transcription	NH-A	brain
3	chr17:45882000-45891800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr17:45882200-45892000	Weak transcription	Fetal Kidney	kidney
5	chr17:45882600-45898600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr17:45883000-45890200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr17:45883200-45888600	Weak transcription	Primary hematopoietic stem cells	blood
8	chr17:45883400-45897600	Strong transcription	Fetal Stomach	stomach
9	chr17:45883400-45898200	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr17:45883600-45889600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr17:45883600-45897800	Weak transcription	Fetal Brain Male	brain
12	chr17:45884000-45887400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr17:45884000-45887800	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr17:45884000-45887800	Strong transcription	Lung	lung
15	chr17:45884000-45887800	Strong transcription	Stomach Smooth Muscle	stomach
16	chr17:45884000-45888800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr17:45884000-45896600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr17:45884000-45897000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr17:45884000-45897000	Strong transcription	Brain Inferior Temporal Lobe	brain
20	chr17:45884000-45897200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr17:45884000-45897200	Strong transcription	Brain Anterior Caudate	brain
22	chr17:45884000-45897200	Strong transcription	Thymus	Thymus
23	chr17:45884000-45897400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr17:45884000-45897400	Strong transcription	Spleen	Spleen
25	chr17:45884000-45898000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr17:45884000-45898400	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr17:45884200-45887200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr17:45884200-45887600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr17:45884200-45888000	Strong transcription	Dnd41	blood
30	chr17:45884200-45888400	Strong transcription	Adipose Nuclei	Adipose
31	chr17:45884200-45892000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr17:45884200-45893000	Genic enhancers	Skeletal Muscle Female	skeletal muscle
33	chr17:45884200-45896200	Strong transcription	Primary neutrophils fromperipheralblood	blood
34	chr17:45884200-45897000	Strong transcription	Brain Cingulate Gyrus	brain
35	chr17:45884200-45897200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr17:45884200-45897200	Strong transcription	Primary T helper cells PMA-I stimulated	--
37	chr17:45884200-45897200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr17:45884200-45897400	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr17:45884200-45897400	Strong transcription	Brain Hippocampus Middle	brain
40	chr17:45884200-45897400	Strong transcription	Fetal Muscle Trunk	muscle
41	chr17:45884200-45897600	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr17:45884200-45898200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr17:45884400-45888200	Strong transcription	Ovary	ovary
44	chr17:45884400-45888400	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr17:45884400-45896600	Strong transcription	Brain Germinal Matrix	brain
46	chr17:45884400-45896800	Strong transcription	Brain Substantia Nigra	brain
47	chr17:45884400-45897000	Strong transcription	Primary T cells from cord blood	blood
48	chr17:45884400-45897000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr17:45884400-45897000	Strong transcription	Monocytes-CD14+_RO01746	blood
50	chr17:45884400-45897200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood

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