Variant report

Variant	rs327466
Chromosome Location	chr14:81233367-81233368
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:81232663..81234476-chr14:81236188..81238113,2	K562	blood:

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

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

rs_ID	r²[population]
rs1197475	1.00[ASW][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes]
rs162175	0.82[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs162176	1.00[ASW][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1674557	0.82[YRI][hapmap];1.00[AMR][1000 genomes]
rs189012	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2122427	1.00[AMR][1000 genomes]
rs228117	0.82[YRI][hapmap];1.00[AMR][1000 genomes]
rs228123	1.00[AMR][1000 genomes]
rs2556602	0.82[YRI][hapmap];1.00[AMR][1000 genomes]
rs327430	1.00[ASW][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.82[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs327438	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs327444	0.83[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs327445	1.00[ASW][hapmap];0.89[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs327448	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs327449	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs327453	1.00[ASW][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.82[YRI][hapmap];0.83[AFR][1000 genomes]
rs327455	1.00[AMR][1000 genomes]
rs327461	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs327474	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs327475	0.82[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs327478	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs327479	1.00[AMR][1000 genomes]
rs327480	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs328253	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs442359	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4899775	1.00[AMR][1000 genomes]
rs58018370	0.93[AFR][1000 genomes]
rs60529658	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6574590	1.00[AMR][1000 genomes]
rs7141981	0.82[YRI][hapmap];1.00[AMR][1000 genomes]
rs7149056	0.82[YRI][hapmap];1.00[AMR][1000 genomes]
rs8005704	1.00[AMR][1000 genomes]
rs8022471	0.82[YRI][hapmap];1.00[AMR][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:28 , 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	chr14:81223400-81234000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr14:81227000-81260800	Weak transcription	NH-A	brain
15	chr14:81227400-81258000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr14:81227600-81236200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr14:81228200-81240800	Weak transcription	Fetal Thymus	thymus
18	chr14:81229400-81238800	Weak transcription	Left Ventricle	heart
19	chr14:81229600-81234200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr14:81229800-81236200	Weak transcription	NHDF-Ad	bronchial
21	chr14:81231200-81251400	Weak transcription	A549	lung
22	chr14:81231600-81236200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr14:81232000-81251200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr14:81232400-81235200	Enhancers	NHEK	skin
25	chr14:81232400-81260800	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr14:81232600-81236400	Weak transcription	Dnd41	blood
27	chr14:81233000-81233400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr14:81233200-81233400	Enhancers	NHLF	lung

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