Variant report

Variant	rs2909208
Chromosome Location	chr17:66445652-66445653
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:66445406-66445751	K562	blood:	n/a	n/a
2	POLR2A	chr17:66445217-66445844	HepG2	liver:	n/a	n/a
3	CTCF	chr17:66445640-66445790	RPTEC	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:66437281..66438931-chr17:66445313..66446855,2	K562	blood:
2	chr17:66444999..66447953-chr17:66450443..66453876,4	K562	blood:
3	chr17:66445448..66449611-chr17:66450414..66454852,7	K562	blood:

Variant related genes	Relation type
WIPI1	TF binding region
ENSG00000070540	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10153240	0.84[EUR][1000 genomes]
rs1108683	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2909210	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2952293	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67556103	0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs883622	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs888298	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833523	chr17:66343323-66510461	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2909208	WIPI1	cis	Esophagus Mucosa	GTEx

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:66410400-66452400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr17:66420800-66446400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr17:66420800-66451800	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr17:66425400-66451600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr17:66425400-66452000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr17:66432200-66452400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr17:66432400-66446400	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr17:66432600-66451600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr17:66432800-66448200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr17:66433000-66451800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr17:66433000-66451800	Weak transcription	Hela-S3	cervix
12	chr17:66434400-66447800	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr17:66434400-66450200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr17:66434600-66449000	Weak transcription	Thymus	Thymus
15	chr17:66434600-66450400	Strong transcription	Osteobl	bone
16	chr17:66434800-66452200	Weak transcription	Dnd41	blood
17	chr17:66434800-66452400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr17:66434800-66452600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr17:66435200-66452200	Weak transcription	Stomach Mucosa	stomach
20	chr17:66435600-66449400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr17:66435800-66447600	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr17:66436000-66449000	Strong transcription	NHLF	lung
23	chr17:66437200-66447000	Strong transcription	HepG2	liver
24	chr17:66437200-66451600	Weak transcription	GM12878-XiMat	blood
25	chr17:66437400-66451600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr17:66437400-66451600	Weak transcription	Small Intestine	intestine
27	chr17:66437600-66446400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr17:66437600-66452800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr17:66437800-66448000	Strong transcription	Sigmoid Colon	Sigmoid Colon
30	chr17:66437800-66448200	Strong transcription	Muscle Satellite Cultured Cells	--
31	chr17:66437800-66449200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr17:66438000-66446600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr17:66438000-66449200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr17:66438000-66452000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr17:66438200-66449000	Weak transcription	Primary T cells from cord blood	blood
36	chr17:66438200-66449800	Weak transcription	Fetal Lung	lung
37	chr17:66438200-66452000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr17:66438200-66452000	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr17:66438200-66452400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr17:66438400-66447200	Strong transcription	Rectal Mucosa Donor 31	rectum
41	chr17:66438400-66447800	Weak transcription	Primary hematopoietic stem cells	blood
42	chr17:66438400-66452400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr17:66438400-66452400	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr17:66438600-66449200	Strong transcription	Lung	lung
45	chr17:66438800-66448600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr17:66438800-66449400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr17:66439000-66447800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr17:66439000-66450400	Weak transcription	Primary B cells from cord blood	blood
49	chr17:66439200-66447600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr17:66439200-66449400	Strong transcription	Monocytes-CD14+_RO01746	blood

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