Variant report

Variant	rs12589529
Chromosome Location	chr14:81426534-81426535
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RELA	chr14:81425751-81426558	GM10847	blood:	n/a	n/a
2	TBL1XR1	chr14:81425758-81426560	GM12878	blood:	n/a	n/a
3	GATA3	chr14:81426377-81426546	SH-SY5Y	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:81421633..81424276-chr14:81426151..81427849,2	K562	blood:
2	chr14:81420793..81423189-chr14:81424553..81427836,4	MCF-7	breast:

Variant related genes	Relation type
CEP128	TF binding region
ENSG00000165409	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12586298	1.00[CHB][hapmap]
rs12587252	1.00[CHB][hapmap];0.80[ASN][1000 genomes]
rs12588700	1.00[CHB][hapmap]
rs12588767	1.00[CHB][hapmap]
rs2371415	1.00[CHB][hapmap]
rs55956216	0.80[ASN][1000 genomes]
rs7144235	0.93[ASN][1000 genomes]
rs7144462	0.86[ASN][1000 genomes]
rs73344053	0.80[ASN][1000 genomes]
rs73344084	0.80[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:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81422200-81426600	Weak transcription	Spleen	Spleen
2	chr14:81422200-81427200	Weak transcription	Right Ventricle	heart
3	chr14:81423200-81427600	Enhancers	Primary B cells from peripheral blood	blood
4	chr14:81423800-81426600	Active TSS	Fetal Thymus	thymus
5	chr14:81424800-81426600	Flanking Active TSS	Primary T cells from cord blood	blood
6	chr14:81424800-81427200	Flanking Active TSS	Dnd41	blood
7	chr14:81425200-81426800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr14:81425400-81426600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
9	chr14:81425400-81426600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
10	chr14:81425400-81426800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
11	chr14:81425400-81426800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
12	chr14:81425400-81426800	Enhancers	Fetal Brain Male	brain
13	chr14:81425400-81426800	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr14:81425600-81427800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr14:81425800-81426600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr14:81425800-81426600	Enhancers	Fetal Brain Female	brain
17	chr14:81425800-81426600	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr14:81426000-81426800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr14:81426200-81426600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr14:81426200-81426600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
21	chr14:81426200-81426600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr14:81426200-81426600	Enhancers	Brain Cingulate Gyrus	brain
23	chr14:81426200-81426600	Enhancers	Brain Substantia Nigra	brain
24	chr14:81426200-81426800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr14:81426200-81426800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr14:81426200-81426800	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr14:81426200-81427400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr14:81426200-81427600	Enhancers	Brain Germinal Matrix	brain
29	chr14:81426400-81426600	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr14:81426400-81426600	Enhancers	Brain Angular Gyrus	brain
31	chr14:81426400-81426800	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr14:81426400-81426800	Enhancers	Primary T cells fromperipheralblood	blood
33	chr14:81426400-81426800	Enhancers	Brain Hippocampus Middle	brain
34	chr14:81426400-81426800	Flanking Active TSS	Thymus	Thymus
35	chr14:81426400-81427000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr14:81426400-81427400	Enhancers	GM12878-XiMat	blood

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