Variant report

Variant	rs17253556
Chromosome Location	chr14:55096181-55096182
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	chr14:55095294..55097412-chr14:55097542..55099837,2	K562	blood:

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[JPT][hapmap]
rs1187594	1.00[JPT][hapmap]
rs1187596	1.00[JPT][hapmap]
rs1211769	1.00[JPT][hapmap]
rs1539116	1.00[JPT][hapmap]
rs17127681	1.00[JPT][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17253494	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs17832209	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	0.92[ASN][1000 genomes]
rs1998671	1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2147537	1.00[JPT][hapmap];0.90[MKK][hapmap];0.97[TSI][hapmap];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28455122	0.92[ASN][1000 genomes]
rs4548794	0.92[ASN][1000 genomes]
rs4898840	1.00[JPT][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55742724	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55816518	0.92[ASN][1000 genomes]
rs56110021	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56133056	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56220434	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56294338	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59630936	0.92[ASN][1000 genomes]
rs61975126	0.92[ASN][1000 genomes]
rs61975137	0.92[ASN][1000 genomes]
rs880120	1.00[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
rs17253556	GNG2	cis	cerebellum	SCAN
rs17253556	WDHD1	cis	parietal	SCAN

Chromatin state (count:85 , 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	chr14:55094400-55098000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr14:55094400-55102600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr14:55094800-55096800	Enhancers	Muscle Satellite Cultured Cells	--
7	chr14:55095000-55096200	Enhancers	Primary T cells fromperipheralblood	blood
8	chr14:55095000-55096800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr14:55095000-55097200	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr14:55095000-55097200	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr14:55095000-55097400	Enhancers	Primary B cells from peripheral blood	blood
12	chr14:55095200-55096200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr14:55095200-55096200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr14:55095200-55096200	Genic enhancers	HSMM	muscle
15	chr14:55095200-55096200	Enhancers	HSMMtube	muscle
16	chr14:55095200-55096200	Genic enhancers	NHLF	lung
17	chr14:55095200-55096400	Enhancers	Rectal Smooth Muscle	rectum
18	chr14:55095200-55096600	Enhancers	Right Ventricle	heart
19	chr14:55095200-55096800	Enhancers	Primary T cells from cord blood	blood
20	chr14:55095200-55096800	Enhancers	Primary hematopoietic stem cells	blood
21	chr14:55095200-55096800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr14:55095200-55096800	Enhancers	Brain Angular Gyrus	brain
23	chr14:55095200-55096800	Enhancers	Fetal Lung	lung
24	chr14:55095200-55096800	Enhancers	HUVEC	blood vessel
25	chr14:55095200-55097000	Enhancers	Primary B cells from cord blood	blood
26	chr14:55095200-55097000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr14:55095200-55097400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr14:55095200-55097400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr14:55095200-55097400	Enhancers	Colon Smooth Muscle	Colon
30	chr14:55095200-55097400	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr14:55095200-55097600	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr14:55095200-55097600	Weak transcription	Aorta	Aorta
33	chr14:55095200-55097600	Weak transcription	Left Ventricle	heart
34	chr14:55095200-55097800	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr14:55095200-55097800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr14:55095200-55098000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr14:55095200-55099800	Weak transcription	Spleen	Spleen
38	chr14:55095200-55102800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr14:55095200-55102800	Weak transcription	Ovary	ovary
40	chr14:55095200-55104200	Weak transcription	Placenta	Placenta
41	chr14:55095200-55106000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr14:55095200-55106000	Weak transcription	Pancreas	Pancrea
43	chr14:55095200-55109200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr14:55095400-55096200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr14:55095400-55096200	Enhancers	Brain Substantia Nigra	brain
46	chr14:55095400-55096600	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr14:55095400-55096600	Enhancers	Stomach Smooth Muscle	stomach
48	chr14:55095400-55096800	Enhancers	GM12878-XiMat	blood
49	chr14:55095400-55097000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr14:55095400-55097200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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