Variant report

Variant	rs8009058
Chromosome Location	chr14:81422868-81422869
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:81421283..81423197-chr14:81423259..81426025,2	K562	blood:
2	chr14:81420793..81423189-chr14:81424553..81427836,4	MCF-7	breast:
3	chr14:81421307..81423560-chr14:81685821..81687772,2	MCF-7	breast:
4	chr14:81400340..81402827-chr14:81422342..81424603,2	K562	blood:

Variant related genes	Relation type
ENSG00000165417	Chromatin interaction
ENSG00000100629	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs179243	0.86[YRI][hapmap]
rs2234919	0.83[ASN][1000 genomes]
rs45585237	0.83[ASN][1000 genomes]
rs726020	0.82[YRI][hapmap]
rs8022139	1.00[CEU][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8022600	0.90[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv832840	chr14:81270033-81423583	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
3	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
4	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
5	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:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81421000-81423400	Active TSS	Fetal Thymus	thymus
2	chr14:81421000-81426400	Active TSS	Thymus	Thymus
3	chr14:81422000-81424400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr14:81422000-81425800	Weak transcription	Brain Angular Gyrus	brain
5	chr14:81422200-81424800	Transcr. at gene 5' and 3'	Dnd41	blood
6	chr14:81422200-81425000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr14:81422200-81425200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr14:81422200-81425800	Weak transcription	Brain Cingulate Gyrus	brain
9	chr14:81422200-81425800	Weak transcription	Brain Substantia Nigra	brain
10	chr14:81422200-81426600	Weak transcription	Spleen	Spleen
11	chr14:81422200-81427200	Weak transcription	Right Ventricle	heart
12	chr14:81422400-81423600	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr14:81422400-81424400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr14:81422400-81424800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr14:81422400-81425800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr14:81422400-81425800	Weak transcription	Brain Anterior Caudate	brain
17	chr14:81422600-81423400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr14:81422600-81423800	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr14:81422600-81424200	Weak transcription	Primary T cells from cord blood	blood
20	chr14:81422600-81424600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr14:81422600-81425200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr14:81422600-81425400	Weak transcription	Brain Germinal Matrix	brain
23	chr14:81422800-81424200	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr14:81422800-81424200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr14:81422800-81424600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr14:81422800-81424800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
27	chr14:81422800-81425000	Weak transcription	Primary T helper cells fromperipheralblood	blood

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