Variant report

Variant	rs8006716
Chromosome Location	chr14:72988543-72988544
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	chr14:72985021..72986581-chr14:72988100..72990436,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10136417	1.00[MEX][hapmap]
rs10138138	0.87[YRI][hapmap]
rs10150308	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17116077	1.00[MEX][hapmap]
rs17116098	1.00[MEX][hapmap]
rs17116719	1.00[ASW][hapmap];1.00[MEX][hapmap];0.95[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55697641	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530794	chr14:72113818-73034008	Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
2	nsv948800	chr14:72462557-73150701	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
3	esv1843592	chr14:72967991-73007547	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72979400-72995400	Weak transcription	Left Ventricle	heart
2	chr14:72983600-72995000	Weak transcription	Colonic Mucosa	Colon
3	chr14:72984000-72994800	Strong transcription	Cortex derived primary cultured neurospheres	brain
4	chr14:72984200-72990400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr14:72984200-72994400	Weak transcription	Fetal Stomach	stomach
6	chr14:72984400-73011000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr14:72984600-72988800	Weak transcription	Fetal Lung	lung
8	chr14:72984800-72989400	Weak transcription	Liver	Liver
9	chr14:72984800-72989600	Weak transcription	Ovary	ovary
10	chr14:72984800-72995400	Weak transcription	Osteobl	bone
11	chr14:72985000-72988800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr14:72985600-72990000	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr14:72985800-72989800	Weak transcription	Adipose Nuclei	Adipose
14	chr14:72985800-72990000	Weak transcription	Spleen	Spleen
15	chr14:72986200-72988800	Weak transcription	Fetal Heart	heart
16	chr14:72986400-72995000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr14:72986600-72990600	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr14:72986600-72990600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr14:72986600-72990800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr14:72986600-72990800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr14:72986600-72991000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr14:72986800-72989000	ZNF genes & repeats	GM12878-XiMat	blood
23	chr14:72986800-72989200	ZNF genes & repeats	Primary B cells from peripheral blood	blood
24	chr14:72986800-72990200	Weak transcription	Primary T cells from cord blood	blood
25	chr14:72986800-72990800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr14:72986800-72996200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr14:72987200-72990600	Weak transcription	Fetal Thymus	thymus
28	chr14:72987400-72990400	Weak transcription	Primary T helper cells PMA-I stimulated	--
29	chr14:72987600-72988600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr14:72988000-72989600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr14:72988200-72989200	ZNF genes & repeats	Primary B cells from cord blood	blood
32	chr14:72988200-72989600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr14:72988200-72990800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr14:72988400-72989000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood

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