Variant report

Variant	rs17668126
Chromosome Location	chr17:45281257-45281258
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:45236830..45238763-chr17:45281000..45283045,2	K562	blood:
2	chr17:45273712..45279094-chr17:45279285..45284499,7	K562	blood:
3	chr17:45265425..45269379-chr17:45279788..45284697,6	K562	blood:
4	chr17:45265176..45269287-chr17:45280012..45282931,4	K562	blood:

Variant related genes	Relation type
ENSG00000239291	Chromatin interaction
ENSG00000198336	Chromatin interaction
ENSG00000004897	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11570508	1.00[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.91[TSI][hapmap];0.81[ASN][1000 genomes]
rs1515751	0.82[GIH][hapmap]
rs1515752	0.82[GIH][hapmap]
rs739571	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[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	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

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs17668126	C17orf53	cis	parietal	SCAN
rs17668126	VAT1	cis	cerebellum	SCAN
rs17668126	TUBG1	cis	cerebellum	SCAN
rs17668126	RND2	cis	cerebellum	SCAN
rs17668126	GPATCH8	cis	cerebellum	SCAN
rs17668126	SKAP1	cis	cerebellum	SCAN
rs17668126	STAT5A	cis	cerebellum	SCAN

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45274800-45282200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr17:45278200-45282200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr17:45278200-45282200	Weak transcription	Colonic Mucosa	Colon
4	chr17:45278200-45282200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr17:45279000-45282000	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr17:45279000-45282200	Weak transcription	Stomach Mucosa	stomach
7	chr17:45279200-45282000	Weak transcription	Fetal Intestine Small	intestine
8	chr17:45279200-45282000	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr17:45279400-45282200	Weak transcription	Fetal Intestine Large	intestine
10	chr17:45280200-45281400	Weak transcription	Fetal Heart	heart
11	chr17:45280200-45282400	Enhancers	Primary B cells from peripheral blood	blood
12	chr17:45280400-45282200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr17:45280400-45282600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr17:45280600-45282800	Enhancers	Dnd41	blood
15	chr17:45280800-45282200	Enhancers	Primary B cells from cord blood	blood
16	chr17:45281000-45281400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr17:45281000-45281400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr17:45281000-45281600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
19	chr17:45281000-45281800	Enhancers	Duodenum Mucosa	Duodenum
20	chr17:45281000-45281800	Enhancers	Rectal Mucosa Donor 29	rectum
21	chr17:45281000-45282000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr17:45281000-45282200	Enhancers	Primary T cells fromperipheralblood	blood
23	chr17:45281000-45282200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr17:45281000-45282200	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr17:45281000-45282200	Enhancers	Adipose Nuclei	Adipose
26	chr17:45281000-45282200	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr17:45281000-45282200	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr17:45281000-45282200	Enhancers	HSMM	muscle
29	chr17:45281000-45282200	Enhancers	HSMMtube	muscle
30	chr17:45281000-45282200	Enhancers	NHDF-Ad	bronchial
31	chr17:45281000-45282200	Enhancers	Osteobl	bone
32	chr17:45281000-45282400	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr17:45281000-45282400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr17:45281000-45282600	Enhancers	Primary T cells from cord blood	blood
35	chr17:45281000-45282600	Enhancers	Muscle Satellite Cultured Cells	--
36	chr17:45281000-45282600	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr17:45281000-45283200	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr17:45281000-45283200	Enhancers	Brain Substantia Nigra	brain
39	chr17:45281000-45283200	Enhancers	Small Intestine	intestine
40	chr17:45281000-45283400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr17:45281000-45283400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
42	chr17:45281000-45283400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr17:45281000-45283400	Enhancers	NH-A	brain
44	chr17:45281000-45283600	Enhancers	Primary hematopoietic stem cells	blood
45	chr17:45281000-45283600	Enhancers	Placenta	Placenta
46	chr17:45281000-45283600	Flanking Active TSS	GM12878-XiMat	blood
47	chr17:45281000-45283600	Enhancers	HMEC	breast
48	chr17:45281000-45283600	Enhancers	NHLF	lung
49	chr17:45281000-45283800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr17:45281000-45286000	Enhancers	Fetal Muscle Leg	muscle

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