Variant report

Variant	rs2909210
Chromosome Location	chr17:66456481-66456482
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr17:66456427-66456633	GM12878	blood:	n/a	n/a
2	POLR2A	chr17:66456274-66458213	GM12878	blood:	n/a	n/a
3	CUX1	chr17:66456375-66456717	GM12878	blood:	n/a	n/a
4	WRNIP1	chr17:66456395-66456667	GM12878	blood:	n/a	n/a
5	PML	chr17:66456235-66458224	GM12878	blood:	n/a	n/a
6	CHD1	chr17:66456470-66457654	GM12878	blood:	n/a	n/a
7	MXI1	chr17:66456362-66457169	GM12878	blood:	n/a	n/a
8	ZNF384	chr17:66456470-66456605	GM12878	blood:	n/a	n/a
9	RUNX3	chr17:66456223-66457341	GM12878	blood:	n/a	n/a
10	CUX1	chr17:66456373-66456562	K562	blood:	n/a	n/a
11	TBL1XR1	chr17:66456351-66456641	GM12878	blood:	n/a	n/a
12	POLR2A	chr17:66456377-66456790	GM12892	blood:	n/a	n/a
13	RCOR1	chr17:66456320-66456621	K562	blood:	n/a	n/a
14	CHD2	chr17:66456317-66456586	GM12878	blood:	n/a	n/a
15	NFIC	chr17:66456250-66456651	GM12878	blood:	n/a	n/a
16	MAX	chr17:66456337-66456674	GM12878	blood:	n/a	n/a
17	EBF1	chr17:66456227-66457351	GM12878	blood:	n/a	n/a
18	FOXM1	chr17:66456237-66457343	GM12878	blood:	n/a	n/a
19	ELK1	chr17:66456384-66456481	GM12878	blood:	n/a	n/a
20	RUNX3	chr17:66456208-66456654	GM12878	blood:	n/a	n/a
21	IKZF1	chr17:66456332-66457398	GM12878	blood:	n/a	n/a
22	TBP	chr17:66456384-66457692	GM12878	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:66286038..66290193-chr17:66450658..66456945,10	MCF-7	breast:
2	chr17:66456309..66458801-chr17:66507284..66509337,2	MCF-7	breast:
3	chr17:66455236..66457061-chr17:66507735..66510656,2	K562	blood:
4	chr17:66430901..66433765-chr17:66455627..66457195,2	K562	blood:
5	chr17:66452513..66457853-chr17:66506674..66510981,7	MCF-7	breast:
6	chr17:66436286..66439070-chr17:66455926..66458072,2	K562	blood:

No data

Variant related genes	Relation type
WIPI1	TF binding region
ENSG00000108932	Chromatin interaction
ENSG00000108946	Chromatin interaction
ENSG00000141337	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	0.83[EUR][1000 genomes]
rs1108683	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2909208	0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2952293	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67556103	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs883622	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs888298	0.97[EUR][1000 genomes];0.93[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
rs2909210	WIPI1	cis	Esophagus Mucosa	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:66453600-66462000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr17:66454400-66457800	Weak transcription	Esophagus	oesophagus
3	chr17:66454400-66458400	Weak transcription	Gastric	stomach
4	chr17:66454400-66458800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr17:66454400-66458800	Weak transcription	Lung	lung
6	chr17:66454600-66457000	Enhancers	Fetal Heart	heart
7	chr17:66454600-66457200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr17:66454600-66457600	Weak transcription	Spleen	Spleen
9	chr17:66454600-66457800	Weak transcription	Fetal Muscle Trunk	muscle
10	chr17:66454600-66458800	Weak transcription	Pancreas	Pancrea
11	chr17:66454600-66459200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr17:66454600-66459400	Enhancers	Primary T cells fromperipheralblood	blood
13	chr17:66454600-66459400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr17:66454600-66459400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
15	chr17:66454600-66459400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr17:66454600-66459400	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr17:66454600-66464000	Weak transcription	Aorta	Aorta
18	chr17:66454600-66465200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr17:66454600-66470400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr17:66454800-66456600	Weak transcription	Hela-S3	cervix
21	chr17:66454800-66456800	Weak transcription	Brain Hippocampus Middle	brain
22	chr17:66454800-66456800	Weak transcription	HSMMtube	muscle
23	chr17:66454800-66457000	Weak transcription	Adipose Nuclei	Adipose
24	chr17:66454800-66457000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr17:66454800-66457400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr17:66454800-66457600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr17:66454800-66457600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr17:66454800-66457800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr17:66454800-66457800	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr17:66454800-66458600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr17:66454800-66458800	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr17:66454800-66458800	Weak transcription	Brain Angular Gyrus	brain
33	chr17:66454800-66458800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr17:66454800-66459000	Weak transcription	Primary B cells from peripheral blood	blood
35	chr17:66454800-66459000	Weak transcription	Brain Anterior Caudate	brain
36	chr17:66454800-66459000	Weak transcription	Brain Cingulate Gyrus	brain
37	chr17:66454800-66459000	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr17:66454800-66459000	Weak transcription	Colon Smooth Muscle	Colon
39	chr17:66454800-66459000	Weak transcription	Fetal Kidney	kidney
40	chr17:66454800-66459000	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr17:66454800-66459000	Weak transcription	Rectal Smooth Muscle	rectum
42	chr17:66454800-66459000	Weak transcription	Stomach Smooth Muscle	stomach
43	chr17:66454800-66459400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr17:66454800-66462000	Weak transcription	Small Intestine	intestine
45	chr17:66454800-66462200	Weak transcription	Placenta	Placenta
46	chr17:66454800-66463600	Weak transcription	Right Atrium	heart
47	chr17:66455000-66456600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr17:66455000-66456600	Weak transcription	NHEK	skin
49	chr17:66455000-66457000	Weak transcription	HMEC	breast
50	chr17:66455000-66457400	Enhancers	Skeletal Muscle Female	skeletal muscle

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