Variant report

Variant	rs2147537
Chromosome Location	chr14:55098313-55098314
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:55095294..55097412-chr14:55097542..55099837,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:17)

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	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17253494	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17253556	1.00[JPT][hapmap];0.90[MKK][hapmap];0.97[TSI][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs17832209	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]
rs1998671	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4898840	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.93[EUR][1000 genomes]
rs55742724	0.89[EUR][1000 genomes]
rs56110021	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs56133056	0.88[EUR][1000 genomes]
rs56220434	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56294338	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs880120	1.00[AMR][1000 genomes];0.97[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	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
rs2147537	WDHD1	cis	parietal	SCAN
rs2147537	LAS1L	trans	brain	seeQTL

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55070400-55116200	Weak transcription	HMEC	breast
2	chr14:55084600-55103000	Weak transcription	NHEK	skin
3	chr14:55093400-55102800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr14:55094400-55102600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr14:55095200-55099800	Weak transcription	Spleen	Spleen
6	chr14:55095200-55102800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr14:55095200-55102800	Weak transcription	Ovary	ovary
8	chr14:55095200-55104200	Weak transcription	Placenta	Placenta
9	chr14:55095200-55106000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr14:55095200-55106000	Weak transcription	Pancreas	Pancrea
11	chr14:55095200-55109200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr14:55095400-55099800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr14:55095400-55100000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr14:55095400-55100200	Weak transcription	NH-A	brain
15	chr14:55095400-55104200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr14:55095600-55103000	Weak transcription	NHDF-Ad	bronchial
17	chr14:55095600-55103600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr14:55095600-55104200	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr14:55095600-55105600	Weak transcription	HepG2	liver
20	chr14:55095600-55109600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr14:55096000-55099800	Weak transcription	Right Atrium	heart
22	chr14:55096000-55100000	Weak transcription	Fetal Muscle Trunk	muscle
23	chr14:55096000-55103400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr14:55096000-55104400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr14:55096000-55106000	Weak transcription	Lung	lung
26	chr14:55096000-55109400	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr14:55096200-55102600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr14:55096200-55103000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr14:55096200-55104200	Weak transcription	Brain Substantia Nigra	brain
30	chr14:55096200-55104200	Weak transcription	NHLF	lung
31	chr14:55096200-55109200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr14:55096600-55099800	Weak transcription	Right Ventricle	heart
33	chr14:55096800-55098600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr14:55096800-55103200	Weak transcription	HUVEC	blood vessel
35	chr14:55096800-55104200	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr14:55096800-55106000	Weak transcription	Brain Hippocampus Middle	brain
37	chr14:55097000-55102600	Weak transcription	Rectal Smooth Muscle	rectum
38	chr14:55097000-55103400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr14:55097400-55099200	Weak transcription	Fetal Heart	heart
40	chr14:55097400-55102800	Weak transcription	Colon Smooth Muscle	Colon
41	chr14:55097400-55104800	Weak transcription	Brain Cingulate Gyrus	brain
42	chr14:55097800-55099400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr14:55098000-55098400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
44	chr14:55098000-55098400	Weak transcription	Brain Angular Gyrus	brain
45	chr14:55098000-55099400	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr14:55098000-55099600	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr14:55098000-55099800	Weak transcription	Left Ventricle	heart
48	chr14:55098000-55099800	Weak transcription	Psoas Muscle	Psoas
49	chr14:55098000-55102800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr14:55098000-55105600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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