Variant report

Variant	rs17832209
Chromosome Location	chr14:55092855-55092856
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:55092055..55094669-chr14:55116255..55118768,2	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1187590	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1187594	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1187596	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1211769	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1539116	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17127681	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17253494	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17253556	1.00[ASW][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1957888	1.00[ASN][1000 genomes]
rs1998671	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2147537	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];0.97[TSI][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28455122	1.00[ASN][1000 genomes]
rs4548794	1.00[ASN][1000 genomes]
rs4898840	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55742724	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55816518	1.00[ASN][1000 genomes]
rs56110021	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56133056	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56220434	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56294338	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59630936	1.00[ASN][1000 genomes]
rs61975126	1.00[ASN][1000 genomes]
rs61975137	1.00[ASN][1000 genomes]
rs880120	0.87[AMR][1000 genomes];1.00[EUR][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	nsv974464	chr14:55092217-55152792	Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17832209	CDKL1	cis	parietal	SCAN
rs17832209	WDHD1	cis	parietal	SCAN

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55070400-55116200	Weak transcription	HMEC	breast
2	chr14:55078800-55094000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr14:55078800-55094000	Weak transcription	HSMMtube	muscle
4	chr14:55084600-55103000	Weak transcription	NHEK	skin
5	chr14:55087600-55094000	Enhancers	NHLF	lung
6	chr14:55087600-55094200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr14:55089000-55093600	Enhancers	HepG2	liver
8	chr14:55089200-55094200	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr14:55089600-55093000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr14:55089600-55095400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr14:55089800-55094200	Weak transcription	Ovary	ovary
12	chr14:55090000-55093000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr14:55090000-55093200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr14:55090000-55093400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr14:55090000-55093800	Weak transcription	Primary B cells from peripheral blood	blood
16	chr14:55090000-55093800	Weak transcription	GM12878-XiMat	blood
17	chr14:55090000-55094000	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr14:55090000-55094200	Weak transcription	Right Ventricle	heart
19	chr14:55090000-55094600	Weak transcription	Fetal Muscle Trunk	muscle
20	chr14:55090200-55094000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr14:55090600-55093000	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr14:55090600-55093600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr14:55090600-55093800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr14:55090600-55094000	Weak transcription	Brain Anterior Caudate	brain
25	chr14:55090600-55094000	Enhancers	Fetal Lung	lung
26	chr14:55090600-55094200	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr14:55090800-55094400	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr14:55091000-55093800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr14:55091000-55094000	Enhancers	NHDF-Ad	bronchial
30	chr14:55091000-55094400	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr14:55091200-55093600	Enhancers	Psoas Muscle	Psoas
32	chr14:55091200-55093800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr14:55091200-55094000	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr14:55091200-55094600	Enhancers	Fetal Heart	heart
35	chr14:55091200-55094800	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr14:55091200-55095000	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr14:55091200-55095000	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr14:55091200-55095200	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr14:55091200-55095200	Enhancers	Fetal Stomach	stomach
40	chr14:55091400-55093200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr14:55091400-55094000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr14:55091400-55095000	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr14:55091600-55094000	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr14:55091600-55094000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr14:55091600-55094200	Enhancers	Adipose Nuclei	Adipose
46	chr14:55091600-55094800	Weak transcription	Brain Germinal Matrix	brain
47	chr14:55091600-55095200	Enhancers	H1 Cell Line	embryonic stem cell
48	chr14:55091800-55094000	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr14:55091800-55094200	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr14:55091800-55094200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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