Variant report

Variant	rs9907142
Chromosome Location	chr17:45885687-45885688
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:45882984..45885950-chr17:45891255..45893938,2	MCF-7	breast:
2	chr17:45771011..45773166-chr17:45884072..45886713,2	MCF-7	breast:
3	chr17:45882830..45886365-chr17:45971325..45973276,3	MCF-7	breast:
4	chr17:45725747..45727611-chr17:45884252..45887189,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000108424	Chromatin interaction
ENSG00000264920	Chromatin interaction
ENSG00000198933	Chromatin interaction
ENSG00000263766	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1008934	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1018903	0.82[JPT][hapmap]
rs2023799	0.85[EUR][1000 genomes]
rs2074191	1.00[CEU][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs35701113	0.94[ASN][1000 genomes]
rs6503871	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs7220419	1.00[CEU][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs757061	0.85[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs8079715	0.89[EUR][1000 genomes]
rs991108	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	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[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

No data

Chromatin state (count:117 , 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	chr17:45882200-45886400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr17:45882200-45892000	Weak transcription	Fetal Kidney	kidney
6	chr17:45882400-45886000	Weak transcription	HUVEC	blood vessel
7	chr17:45882600-45886600	Weak transcription	Fetal Lung	lung
8	chr17:45882600-45898600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr17:45882800-45886400	Strong transcription	Fetal Intestine Small	intestine
10	chr17:45883000-45890200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr17:45883200-45886000	Weak transcription	A549	lung
12	chr17:45883200-45886000	Weak transcription	GM12878-XiMat	blood
13	chr17:45883200-45888600	Weak transcription	Primary hematopoietic stem cells	blood
14	chr17:45883400-45885800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr17:45883400-45885800	Strong transcription	Gastric	stomach
16	chr17:45883400-45886400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr17:45883400-45886600	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr17:45883400-45897600	Strong transcription	Fetal Stomach	stomach
19	chr17:45883400-45898200	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr17:45883600-45887000	Weak transcription	Hela-S3	cervix
21	chr17:45883600-45889600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr17:45883600-45897800	Weak transcription	Fetal Brain Male	brain
23	chr17:45883800-45886400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr17:45883800-45886400	Strong transcription	Duodenum Mucosa	Duodenum
25	chr17:45884000-45885800	Strong transcription	Pancreas	Pancrea
26	chr17:45884000-45886000	Strong transcription	Fetal Intestine Large	intestine
27	chr17:45884000-45887000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr17:45884000-45887000	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr17:45884000-45887000	Strong transcription	Rectal Mucosa Donor 31	rectum
30	chr17:45884000-45887000	Strong transcription	Sigmoid Colon	Sigmoid Colon
31	chr17:45884000-45887000	Strong transcription	Osteobl	bone
32	chr17:45884000-45887400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr17:45884000-45887800	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr17:45884000-45887800	Strong transcription	Lung	lung
35	chr17:45884000-45887800	Strong transcription	Stomach Smooth Muscle	stomach
36	chr17:45884000-45888800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr17:45884000-45896600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr17:45884000-45897000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr17:45884000-45897000	Strong transcription	Brain Inferior Temporal Lobe	brain
40	chr17:45884000-45897200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr17:45884000-45897200	Strong transcription	Brain Anterior Caudate	brain
42	chr17:45884000-45897200	Strong transcription	Thymus	Thymus
43	chr17:45884000-45897400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr17:45884000-45897400	Strong transcription	Spleen	Spleen
45	chr17:45884000-45898000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr17:45884000-45898400	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr17:45884200-45886400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr17:45884200-45886600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr17:45884200-45887000	Strong transcription	H9 Cell Line	embryonic stem cell
50	chr17:45884200-45887000	Strong transcription	HSMM	muscle

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