Variant report

Variant	rs8071207
Chromosome Location	chr17:46584016-46584017
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:46581860..46584451-chr17:57920963..57923173,2	MCF-7	breast:
2	chr17:46577428..46579209-chr17:46582700..46584447,2	K562	blood:
3	chr17:46582615..46585067-chr17:46605741..46607260,2	MCF-7	breast:
4	chr17:46583694..46585677-chr17:46589290..46592117,3	K562	blood:
5	chr17:46581827..46584181-chr20:55513887..55516591,2	MCF-7	breast:
6	chr17:46566753..46569471-chr17:46581683..46584279,2	MCF-7	breast:
7	chr17:46581684..46585389-chr17:46696226..46700293,4	K562	blood:
8	chr17:46583450..46585256-chr17:46588689..46590687,2	MCF-7	breast:
9	chr17:46569342..46572136-chr17:46582152..46585021,2	MCF-7	breast:
10	chr17:46582924..46585539-chr17:46653556..46656243,2	MCF-7	breast:
11	chr17:46582522..46585256-chr17:46587191..46589212,2	K562	blood:
12	chr17:46572156..46575042-chr17:46583182..46586038,3	MCF-7	breast:

No data

Extended variants
information (count: 47 )
Associated
traits (count: 12 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1022088	0.90[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs1042818	0.82[EUR][1000 genomes]
rs1042822	0.82[EUR][1000 genomes]
rs11868098	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12602539	0.84[EUR][1000 genomes]
rs12603976	0.83[EUR][1000 genomes]
rs12938390	0.84[EUR][1000 genomes]
rs12939811	0.82[CEU][hapmap];0.89[TSI][hapmap];0.87[EUR][1000 genomes]
rs12946855	0.92[EUR][1000 genomes]
rs12946931	0.84[EUR][1000 genomes]
rs12947405	0.84[EUR][1000 genomes]
rs12951076	0.81[EUR][1000 genomes]
rs17703636	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17703660	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2202895	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2229302	0.82[CEU][hapmap];0.89[TSI][hapmap];0.84[EUR][1000 genomes]
rs2326012	0.84[EUR][1000 genomes]
rs34378400	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35621842	0.82[CEU][hapmap];0.89[TSI][hapmap];0.88[EUR][1000 genomes]
rs4793854	0.94[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4793870	0.88[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs4793889	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55859232	0.85[EUR][1000 genomes]
rs56038617	0.85[EUR][1000 genomes]
rs56115209	0.80[EUR][1000 genomes]
rs56128659	0.84[EUR][1000 genomes]
rs62065846	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62066689	0.87[EUR][1000 genomes]
rs62066693	0.84[EUR][1000 genomes]
rs6504281	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6504340	0.94[CEU][hapmap];0.93[TSI][hapmap];0.91[EUR][1000 genomes]
rs7207109	0.94[CEU][hapmap];0.89[TSI][hapmap];0.92[EUR][1000 genomes]
rs7207171	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7222242	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7225995	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8064626	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8066613	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8072250	0.88[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];0.83[MEX][hapmap];0.84[MKK][hapmap];0.96[TSI][hapmap];0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8073963	0.94[CEU][hapmap];0.93[TSI][hapmap];0.92[EUR][1000 genomes]
rs8074125	0.85[EUR][1000 genomes]
rs8079617	0.82[CEU][hapmap];0.89[TSI][hapmap];0.85[EUR][1000 genomes]
rs9904760	0.88[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.83[MEX][hapmap];0.96[TSI][hapmap];0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9905940	0.91[EUR][1000 genomes]
rs9906950	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9989493	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833469	chr17:46491849-46709406	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	349 gene(s)	inside rSNPs	diseases
2	esv3420538	chr17:46504944-46861553	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	369 gene(s)	inside rSNPs	diseases

mRNA abundance (count:12)

SNP	Gene	Cis/trans	Tissue	Source
rs8071207	PYY	cis	parietal	SCAN
rs8071207	PNPO	cis	parietal	SCAN
rs8071207	HOXB-AS1	cis	Whole Blood	GTEx
rs8071207	JUP	cis	cerebellum	SCAN
rs8071207	PNPO	cis	cerebellum	SCAN
rs8071207	HOXB2	cis	cerebellum	SCAN
rs8071207	LOC100130581	cis	parietal	SCAN
rs8071207	HOXB2	cis	Whole Blood	GTEx
rs8071207	HOXB2	Cis_1M	lymphoblastoid	RTeQTL
rs8071207	HOXB2	cis	uninvolved skin	skin_eQTL
rs8071207	HOXB2	cis	Adipose Subcutaneous	GTEx
rs8071207	KLHL11	cis	cerebellum	SCAN

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46574600-46588000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr17:46580200-46584600	Enhancers	Placenta Amnion	Placenta Amnion
3	chr17:46582000-46584200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
4	chr17:46582400-46584400	Enhancers	HMEC	breast
5	chr17:46582400-46584600	Enhancers	GM12878-XiMat	blood
6	chr17:46582600-46584200	Enhancers	NH-A	brain
7	chr17:46582600-46584600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr17:46582600-46585000	Enhancers	HSMM	muscle
9	chr17:46582800-46584400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr17:46582800-46584400	Enhancers	Muscle Satellite Cultured Cells	--
11	chr17:46582800-46584600	Enhancers	K562	blood
12	chr17:46583000-46584200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr17:46583000-46584200	Enhancers	NHDF-Ad	bronchial
14	chr17:46583000-46584400	Enhancers	HSMMtube	muscle
15	chr17:46583200-46584200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr17:46583200-46585000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr17:46583600-46584200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr17:46583600-46590200	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr17:46583800-46584400	Enhancers	A549	lung
20	chr17:46583800-46588000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr17:46583800-46588000	Weak transcription	NHLF	lung
22	chr17:46583800-46590400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr17:46583800-46590400	Weak transcription	Colon Smooth Muscle	Colon
24	chr17:46584000-46584200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr17:46584000-46587800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr17:46584000-46588000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr17:46584000-46588000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr17:46584000-46588000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr17:46584000-46590200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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