Variant report

Variant	rs2268451
Chromosome Location	chr14:81424118-81424119
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	chr14:81421283..81423197-chr14:81423259..81426025,2	K562	blood:
2	chr14:81400340..81402827-chr14:81422342..81424603,2	K562	blood:

Variant related genes	Relation type
ENSG00000165409	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10135774	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10146348	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10146516	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10149689	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1016699	0.84[CEU][hapmap]
rs1038523	0.80[CEU][hapmap]
rs12050077	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12050078	0.89[CHB][hapmap];0.80[ASN][1000 genomes]
rs12050278	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12050350	0.88[CHB][hapmap];0.80[ASN][1000 genomes]
rs12050416	0.84[CEU][hapmap]
rs12433134	0.84[CEU][hapmap]
rs12434318	0.88[CEU][hapmap]
rs17544072	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17615911	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17615941	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17626988	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs179243	0.89[CHB][hapmap]
rs2110696	0.83[CHB][hapmap]
rs2114705	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2195103	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2217177	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2217178	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2239610	1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs2268452	1.00[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs2284720	0.83[CHB][hapmap]
rs327428	0.80[CEU][hapmap]
rs4899780	0.84[CEU][hapmap]
rs4899781	0.82[EUR][1000 genomes]
rs4903955	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5002906	0.82[CHB][hapmap]
rs55751898	0.92[ASN][1000 genomes]
rs6574609	0.81[CEU][hapmap]
rs6574611	0.82[EUR][1000 genomes]
rs7140452	0.81[CEU][hapmap]
rs7145224	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7154269	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs726018	0.80[ASN][1000 genomes]
rs726020	0.88[CHB][hapmap];0.80[YRI][hapmap];0.80[ASN][1000 genomes]
rs8012343	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8022600	0.91[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	esv2761847	chr14:81392124-81453137	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
3	nsv456346	chr14:81399692-81448382	Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
4	nsv565291	chr14:81399692-81448382	Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81421000-81426400	Active TSS	Thymus	Thymus
2	chr14:81422000-81424400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr14:81422000-81425800	Weak transcription	Brain Angular Gyrus	brain
4	chr14:81422200-81424800	Transcr. at gene 5' and 3'	Dnd41	blood
5	chr14:81422200-81425000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr14:81422200-81425200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr14:81422200-81425800	Weak transcription	Brain Cingulate Gyrus	brain
8	chr14:81422200-81425800	Weak transcription	Brain Substantia Nigra	brain
9	chr14:81422200-81426600	Weak transcription	Spleen	Spleen
10	chr14:81422200-81427200	Weak transcription	Right Ventricle	heart
11	chr14:81422400-81424400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr14:81422400-81424800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr14:81422400-81425800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr14:81422400-81425800	Weak transcription	Brain Anterior Caudate	brain
15	chr14:81422600-81424200	Weak transcription	Primary T cells from cord blood	blood
16	chr14:81422600-81424600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr14:81422600-81425200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr14:81422600-81425400	Weak transcription	Brain Germinal Matrix	brain
19	chr14:81422800-81424200	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr14:81422800-81424200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr14:81422800-81424600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr14:81422800-81424800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
23	chr14:81422800-81425000	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr14:81423000-81424400	Bivalent Enhancer	GM12878-XiMat	blood
25	chr14:81423200-81427600	Enhancers	Primary B cells from peripheral blood	blood
26	chr14:81423600-81425200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr14:81423600-81425400	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr14:81423600-81425400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr14:81423600-81425800	Weak transcription	Adipose Nuclei	Adipose
30	chr14:81423800-81425400	Weak transcription	Primary B cells from cord blood	blood
31	chr14:81423800-81425600	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr14:81423800-81426600	Active TSS	Fetal Thymus	thymus

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