Variant report

Variant	rs3809866
Chromosome Location	chr17:45700408-45700409
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:45695726..45697562-chr17:45698247..45700833,3	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11869026	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11869487	1.00[CEU][hapmap]
rs11869926	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11871264	1.00[AFR][1000 genomes]
rs16942912	0.86[CHB][hapmap]
rs7221355	0.91[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv516872	chr17:45419139-45702280	Strong transcription Genic enhancers Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv525267	chr17:45451894-45735706	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	esv1811231	chr17:45520374-45764956	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	esv1813964	chr17:45520374-45764956	Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	esv2758458	chr17:45520374-45764956	Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	esv2758693	chr17:45520374-45764956	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
8	nsv428344	chr17:45520374-45764956	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
9	nsv471403	chr17:45608444-45700642	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
10	nsv482203	chr17:45608444-45700642	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs3809866	ENSG00000141279	cis	multi-tissue	Pritchard
rs3809866	NPEPPS	cis	multi-tissue	Pritchard

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45663800-45702800	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr17:45667400-45718200	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr17:45670000-45703000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr17:45672400-45704200	Strong transcription	Fetal Muscle Trunk	muscle
5	chr17:45672600-45703000	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr17:45682800-45702000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr17:45686800-45703400	Strong transcription	Fetal Stomach	stomach
8	chr17:45687600-45701400	Strong transcription	Sigmoid Colon	Sigmoid Colon
9	chr17:45688000-45701600	Strong transcription	Primary T cells from cord blood	blood
10	chr17:45688600-45701400	Strong transcription	Dnd41	blood
11	chr17:45688800-45701600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr17:45688800-45702400	Strong transcription	Duodenum Mucosa	Duodenum
13	chr17:45688800-45702400	Strong transcription	Rectal Mucosa Donor 29	rectum
14	chr17:45688800-45703000	Strong transcription	Placenta	Placenta
15	chr17:45689000-45703000	Strong transcription	Fetal Thymus	thymus
16	chr17:45689200-45707800	Weak transcription	Gastric	stomach
17	chr17:45689400-45701800	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr17:45690400-45702000	Strong transcription	Fetal Intestine Large	intestine
19	chr17:45691800-45716600	Weak transcription	Right Ventricle	heart
20	chr17:45692800-45714600	Weak transcription	Aorta	Aorta
21	chr17:45694400-45701400	Strong transcription	Primary B cells from cord blood	blood
22	chr17:45694400-45701400	Strong transcription	Rectal Mucosa Donor 31	rectum
23	chr17:45694600-45700600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr17:45694600-45702600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr17:45694600-45702600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr17:45694600-45702800	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr17:45695400-45704000	Strong transcription	GM12878-XiMat	blood
28	chr17:45695600-45700600	Strong transcription	Primary hematopoietic stem cells	blood
29	chr17:45695800-45701800	Strong transcription	Thymus	Thymus
30	chr17:45696200-45701200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr17:45696400-45701200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr17:45696600-45709200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr17:45696600-45713600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr17:45696600-45726000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr17:45696800-45707200	Weak transcription	Ovary	ovary
36	chr17:45696800-45726200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr17:45697000-45701000	Genic enhancers	HSMM	muscle
38	chr17:45697000-45725800	Weak transcription	Brain Substantia Nigra	brain
39	chr17:45697200-45701000	Genic enhancers	HSMMtube	muscle
40	chr17:45697200-45703600	Weak transcription	Fetal Brain Male	brain
41	chr17:45697200-45713400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr17:45697200-45713600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr17:45697200-45726000	Weak transcription	Brain Angular Gyrus	brain
44	chr17:45697600-45701000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr17:45697800-45700600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr17:45698000-45701000	Strong transcription	Liver	Liver
47	chr17:45698000-45701000	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr17:45698000-45716000	Weak transcription	Psoas Muscle	Psoas
49	chr17:45698200-45701400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr17:45698400-45700600	Enhancers	Rectal Smooth Muscle	rectum

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