Variant report

Variant	rs8081030
Chromosome Location	chr17:15567196-15567197
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:15561055..15565103-chr17:15565320..15567687,3	MCF-7	breast:
2	chr17:15565672..15568468-chr17:15583905..15586616,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000221926	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1810410	1.00[EUR][1000 genomes]
rs2324041	1.00[EUR][1000 genomes]
rs4791644	1.00[EUR][1000 genomes]
rs4792684	1.00[EUR][1000 genomes]
rs58022861	1.00[EUR][1000 genomes]
rs7207037	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7207954	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7217399	1.00[EUR][1000 genomes]
rs7223186	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8064560	0.82[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.80[YRI][hapmap];0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8075651	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8080029	0.93[LWK][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8081063	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9892122	1.00[EUR][1000 genomes]
rs9907205	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492304	chr17:15043353-15611753	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv916652	chr17:15093600-15856310	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv1059056	chr17:15294011-15856861	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
4	nsv457695	chr17:15447364-15611495	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv574462	chr17:15447364-15611495	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv907704	chr17:15542933-15567196	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv934185	chr17:15552960-16551197	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	190 gene(s)	inside rSNPs	diseases
8	nsv520426	chr17:15554561-15647723	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
9	nsv1062951	chr17:15561070-15890644	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
10	nsv522130	chr17:15563393-15592762	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv518620	chr17:15563393-15608194	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	nsv962232	chr17:15565399-15570341	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15554600-15571200	Weak transcription	Liver	Liver
2	chr17:15555000-15587000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr17:15555000-15587000	Weak transcription	Gastric	stomach
4	chr17:15555200-15567200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr17:15555200-15587000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr17:15555400-15568200	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr17:15555400-15568200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr17:15555400-15569000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr17:15555400-15576800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr17:15555400-15585800	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr17:15555400-15586600	Weak transcription	Brain Angular Gyrus	brain
12	chr17:15555400-15586600	Weak transcription	Thymus	Thymus
13	chr17:15555400-15587000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr17:15555600-15586800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr17:15555600-15586800	Weak transcription	NHDF-Ad	bronchial
16	chr17:15555600-15587000	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr17:15555600-15587200	Weak transcription	Aorta	Aorta
18	chr17:15556600-15587000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr17:15558800-15567200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr17:15558800-15567400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr17:15558800-15586600	Weak transcription	Brain Germinal Matrix	brain
22	chr17:15558800-15587000	Weak transcription	Ovary	ovary
23	chr17:15558800-15587000	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr17:15558800-15587000	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr17:15559000-15585800	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr17:15559400-15567600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr17:15561800-15568600	Strong transcription	Fetal Brain Female	brain
28	chr17:15562600-15586400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr17:15563200-15567400	Weak transcription	NH-A	brain
30	chr17:15563400-15567200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr17:15563400-15567600	Weak transcription	Adipose Nuclei	Adipose
32	chr17:15563400-15586800	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr17:15563400-15587000	Weak transcription	Right Ventricle	heart
34	chr17:15563800-15580000	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr17:15563800-15586200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr17:15563800-15587000	Weak transcription	Pancreas	Pancrea
37	chr17:15564000-15567200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr17:15564000-15567800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr17:15564000-15587000	Weak transcription	Esophagus	oesophagus
40	chr17:15564400-15568200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr17:15564600-15568000	Strong transcription	HepG2	liver
42	chr17:15564800-15568200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr17:15565000-15567200	Enhancers	Fetal Heart	heart
44	chr17:15565000-15568000	Strong transcription	A549	lung
45	chr17:15565000-15568200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr17:15565000-15568200	Strong transcription	Primary T cells from cord blood	blood
47	chr17:15565200-15567200	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr17:15565200-15568000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr17:15565200-15586200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr17:15565400-15568000	Strong transcription	HUES48 Cell Line	embryonic stem cell

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