Variant report

Variant	rs73338175
Chromosome Location	chr14:81295235-81295236
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs12586298	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12586860	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12588700	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12588767	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12589097	0.80[ASN][1000 genomes]
rs17111069	0.80[ASN][1000 genomes]
rs17111113	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17111140	1.00[EUR][1000 genomes]
rs17111154	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2371415	0.80[ASN][1000 genomes]
rs35654991	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58900495	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59549907	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73338184	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73338192	1.00[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs73338195	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73340185	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73340194	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73342103	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73342108	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73342113	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73344053	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73344084	1.00[AMR][1000 genomes]
rs73344643	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73344651	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73344656	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73344662	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73344664	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869348	chr14:80921098-81535754	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv832840	chr14:81270033-81423583	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81192800-81305400	Weak transcription	Primary B cells from cord blood	blood
2	chr14:81281600-81304200	Weak transcription	Primary T cells from cord blood	blood
3	chr14:81285000-81304600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr14:81285000-81310200	Weak transcription	A549	lung
5	chr14:81285000-81311200	Weak transcription	Ovary	ovary
6	chr14:81285200-81315600	Weak transcription	HSMM	muscle
7	chr14:81286200-81305800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr14:81288000-81307800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr14:81288800-81305800	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr14:81290600-81311200	Weak transcription	Fetal Stomach	stomach
11	chr14:81291200-81305600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr14:81291400-81305200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr14:81291400-81306600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr14:81291600-81304000	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr14:81291600-81310000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr14:81291600-81310800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr14:81291600-81331000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr14:81291800-81296200	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr14:81291800-81297400	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr14:81291800-81301200	Weak transcription	Thymus	Thymus
21	chr14:81291800-81302400	Weak transcription	Fetal Thymus	thymus
22	chr14:81291800-81303400	Weak transcription	Left Ventricle	heart
23	chr14:81291800-81307000	Strong transcription	Dnd41	blood
24	chr14:81291800-81307200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr14:81291800-81307800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr14:81291800-81344200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr14:81292200-81328200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr14:81292800-81307000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr14:81294400-81309000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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