Variant report

Variant	rs1008934
Chromosome Location	chr17:45884846-45884847
allele	C/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
ENSG00000198933	Chromatin interaction
ENSG00000264920	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]
rs1018903	0.92[ASN][1000 genomes]
rs2023799	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2074191	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35701113	0.81[ASN][1000 genomes]
rs6503871	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7220419	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs757061	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8079715	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9907142	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs991108	0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs9914156	0.97[EUR][1000 genomes];0.82[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:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45879800-45885000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr17:45880200-45885000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr17:45881600-45885200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr17:45881600-45897800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr17:45882000-45885200	Weak transcription	Stomach Mucosa	stomach
6	chr17:45882000-45887200	Weak transcription	NH-A	brain
7	chr17:45882000-45891800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr17:45882200-45886400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr17:45882200-45892000	Weak transcription	Fetal Kidney	kidney
10	chr17:45882400-45886000	Weak transcription	HUVEC	blood vessel
11	chr17:45882600-45886600	Weak transcription	Fetal Lung	lung
12	chr17:45882600-45898600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr17:45882800-45886400	Strong transcription	Fetal Intestine Small	intestine
14	chr17:45883000-45890200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr17:45883200-45885000	Weak transcription	Aorta	Aorta
16	chr17:45883200-45885000	Weak transcription	Esophagus	oesophagus
17	chr17:45883200-45885200	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr17:45883200-45886000	Weak transcription	A549	lung
19	chr17:45883200-45886000	Weak transcription	GM12878-XiMat	blood
20	chr17:45883200-45888600	Weak transcription	Primary hematopoietic stem cells	blood
21	chr17:45883400-45885000	Enhancers	Psoas Muscle	Psoas
22	chr17:45883400-45885200	Strong transcription	Placenta Amnion	Placenta Amnion
23	chr17:45883400-45885800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr17:45883400-45885800	Strong transcription	Gastric	stomach
25	chr17:45883400-45886400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr17:45883400-45886600	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr17:45883400-45897600	Strong transcription	Fetal Stomach	stomach
28	chr17:45883400-45898200	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr17:45883600-45887000	Weak transcription	Hela-S3	cervix
30	chr17:45883600-45889600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr17:45883600-45897800	Weak transcription	Fetal Brain Male	brain
32	chr17:45883800-45886400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr17:45883800-45886400	Strong transcription	Duodenum Mucosa	Duodenum
34	chr17:45884000-45885800	Strong transcription	Pancreas	Pancrea
35	chr17:45884000-45886000	Strong transcription	Fetal Intestine Large	intestine
36	chr17:45884000-45887000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr17:45884000-45887000	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr17:45884000-45887000	Strong transcription	Rectal Mucosa Donor 31	rectum
39	chr17:45884000-45887000	Strong transcription	Sigmoid Colon	Sigmoid Colon
40	chr17:45884000-45887000	Strong transcription	Osteobl	bone
41	chr17:45884000-45887400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr17:45884000-45887800	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr17:45884000-45887800	Strong transcription	Lung	lung
44	chr17:45884000-45887800	Strong transcription	Stomach Smooth Muscle	stomach
45	chr17:45884000-45888800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr17:45884000-45896600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr17:45884000-45897000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr17:45884000-45897000	Strong transcription	Brain Inferior Temporal Lobe	brain
49	chr17:45884000-45897200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr17:45884000-45897200	Strong transcription	Brain Anterior Caudate	brain

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