Variant report

Variant	rs2371414
Chromosome Location	chr14:81234968-81234969
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10129919	0.95[CHB][hapmap];0.90[JPT][hapmap]
rs10132871	0.90[JPT][hapmap]
rs10498551	0.95[CHB][hapmap];0.89[JPT][hapmap];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10498552	0.90[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes]
rs11159475	0.95[CHB][hapmap];0.90[JPT][hapmap]
rs12147744	0.81[CHB][hapmap];0.85[JPT][hapmap]
rs12586908	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs12587367	1.00[CHB][hapmap];0.90[JPT][hapmap]
rs12587646	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12587844	0.81[CHB][hapmap];0.86[JPT][hapmap]
rs12587883	0.90[JPT][hapmap]
rs12588075	0.89[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap]
rs12588311	0.86[CHB][hapmap]
rs12588374	0.86[CHB][hapmap]
rs12589266	0.88[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap]
rs12589927	0.89[CEU][hapmap]
rs12589935	0.95[CHB][hapmap];0.90[JPT][hapmap]
rs12590477	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12590579	0.95[CHB][hapmap];0.90[JPT][hapmap]
rs12590682	0.89[CEU][hapmap];0.95[JPT][hapmap]
rs12880008	0.90[CEU][hapmap];1.00[JPT][hapmap]
rs12882027	0.90[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes]
rs12884630	0.90[CEU][hapmap];0.95[JPT][hapmap]
rs12885049	0.90[CEU][hapmap];0.95[JPT][hapmap]
rs12885089	0.91[CHB][hapmap]
rs12885819	0.89[CEU][hapmap];0.95[JPT][hapmap]
rs12892149	0.95[CHB][hapmap];0.90[JPT][hapmap]
rs12892368	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12892567	0.83[JPT][hapmap]
rs12896053	0.85[CHB][hapmap]
rs1458992	0.95[CHB][hapmap];0.90[JPT][hapmap]
rs1470639	0.91[CHB][hapmap]
rs17111034	0.85[CHB][hapmap]
rs17111035	0.85[CHB][hapmap]
rs17111078	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17111093	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17111143	0.95[CHB][hapmap];0.89[JPT][hapmap]
rs17111149	0.88[CEU][hapmap];0.84[CHB][hapmap];0.94[JPT][hapmap]
rs17111151	0.95[CHB][hapmap];0.90[JPT][hapmap]
rs17111165	0.90[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap]
rs17111167	0.95[CHB][hapmap];0.90[JPT][hapmap]
rs1797667	0.85[ASN][1000 genomes]
rs2195101	0.90[JPT][hapmap]
rs2371417	0.89[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap]
rs2371461	0.80[JPT][hapmap]
rs2840052	1.00[CEU][hapmap];0.81[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs327433	0.81[CHB][hapmap];0.84[JPT][hapmap]
rs35112141	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs35749780	0.80[AMR][1000 genomes]
rs35842427	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3742720	0.90[JPT][hapmap]
rs3861639	0.90[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap]
rs61979421	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61979422	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61979424	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs67330037	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs68145550	0.80[AMR][1000 genomes]
rs7149702	0.82[JPT][hapmap]

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	chr14:81232400-81235200	Enhancers	NHEK	skin
23	chr14:81232400-81260800	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr14:81232600-81236400	Weak transcription	Dnd41	blood
25	chr14:81233600-81246200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr14:81234000-81235400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr14:81234200-81235800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr14:81234800-81235000	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr14:81234800-81235200	Enhancers	HMEC	breast

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