Variant report

Variant	rs327469
Chromosome Location	chr14:81235729-81235730
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10133034	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1038523	0.81[EUR][1000 genomes]
rs149626	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs150997	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs162171	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs162172	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs162178	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1976104	0.83[ASN][1000 genomes]
rs327423	0.85[EUR][1000 genomes]
rs327424	0.87[EUR][1000 genomes]
rs327428	0.84[AMR][1000 genomes]
rs327429	0.84[AMR][1000 genomes]
rs327435	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs327440	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs327442	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs327443	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs327446	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs327447	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs327456	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs327457	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs327459	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs327460	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs327462	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs327463	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs327467	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs327470	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs327472	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs327473	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs327476	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs328240	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs328241	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs328258	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8011273	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][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	nsv1035295	chr14:81180999-81236636	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

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	chr14:81199800-81248600	Weak transcription	Primary T cells from cord blood	blood
3	chr14:81205000-81261000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr14:81207600-81265400	Weak transcription	Primary hematopoietic stem cells	blood
5	chr14:81208400-81240400	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr14:81209600-81248200	Weak transcription	HSMM	muscle
7	chr14:81215800-81236200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr14:81221000-81238600	Weak transcription	Ovary	ovary
9	chr14:81221400-81238600	Weak transcription	Thymus	Thymus
10	chr14:81221600-81236200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr14:81222400-81260000	Weak transcription	Fetal Brain Female	brain
12	chr14:81223200-81250800	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr14:81227000-81260800	Weak transcription	NH-A	brain
14	chr14:81227400-81258000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr14:81227600-81236200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr14:81228200-81240800	Weak transcription	Fetal Thymus	thymus
17	chr14:81229400-81238800	Weak transcription	Left Ventricle	heart
18	chr14:81229800-81236200	Weak transcription	NHDF-Ad	bronchial
19	chr14:81231200-81251400	Weak transcription	A549	lung
20	chr14:81231600-81236200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr14:81232000-81251200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr14:81232400-81260800	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr14:81232600-81236400	Weak transcription	Dnd41	blood
24	chr14:81233600-81246200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr14:81234200-81235800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr14:81235000-81238600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr14:81235200-81236400	Weak transcription	NHEK	skin
28	chr14:81235200-81253600	Weak transcription	HMEC	breast
29	chr14:81235400-81266600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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