Variant report

Variant	rs327473
Chromosome Location	chr14:81237992-81237993
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:81232663..81234476-chr14:81236188..81238113,2	K562	blood:
2	chr14:81236424..81238207-chr14:81245492..81248423,2	MCF-7	breast:
3	chr14:81230364..81233121-chr14:81236333..81239147,3	MCF-7	breast:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10133034	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1038523	0.82[EUR][1000 genomes]
rs149626	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs150997	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs162171	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs162172	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs162178	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1976104	0.83[ASN][1000 genomes]
rs327423	0.86[EUR][1000 genomes]
rs327424	0.88[EUR][1000 genomes]
rs327428	0.85[AMR][1000 genomes]
rs327429	0.85[AMR][1000 genomes]
rs327435	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs327440	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs327442	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs327443	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs327446	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs327447	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs327456	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs327457	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs327459	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs327460	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs327462	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs327463	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs327467	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs327469	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs327470	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs327472	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs327476	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs328240	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs328241	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs328258	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8011273	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[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	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

No data

Chromatin state (count:32 , 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	chr14:81221000-81238600	Weak transcription	Ovary	ovary
8	chr14:81221400-81238600	Weak transcription	Thymus	Thymus
9	chr14:81222400-81260000	Weak transcription	Fetal Brain Female	brain
10	chr14:81223200-81250800	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr14:81227000-81260800	Weak transcription	NH-A	brain
12	chr14:81227400-81258000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr14:81228200-81240800	Weak transcription	Fetal Thymus	thymus
14	chr14:81229400-81238800	Weak transcription	Left Ventricle	heart
15	chr14:81231200-81251400	Weak transcription	A549	lung
16	chr14:81232000-81251200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr14:81232400-81260800	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr14:81233600-81246200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr14:81235000-81238600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr14:81235200-81253600	Weak transcription	HMEC	breast
21	chr14:81235400-81266600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr14:81236200-81238000	Enhancers	NHDF-Ad	bronchial
23	chr14:81236600-81238400	Weak transcription	Dnd41	blood
24	chr14:81236600-81238600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr14:81236600-81251200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr14:81236800-81238400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr14:81236800-81244000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr14:81237200-81248400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr14:81237400-81238600	Weak transcription	NHEK	skin
30	chr14:81237400-81260600	Weak transcription	Right Ventricle	heart
31	chr14:81237600-81255800	Weak transcription	NHLF	lung
32	chr14:81237600-81264600	Weak transcription	Psoas Muscle	Psoas

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