Variant report

Variant	rs72726170
Chromosome Location	chr14:72986518-72986519
allele	C/G
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:
2	chr14:72985322..72986876-chr14:72989675..72992463,2	MCF-7	breast:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11621408	0.81[AMR][1000 genomes]
rs8013020	1.00[AFR][1000 genomes];0.87[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:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:72979400-72995400	Weak transcription	Left Ventricle	heart
2	chr14:72982800-72987000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr14:72983200-72986600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr14:72983200-72986800	Enhancers	Primary B cells from peripheral blood	blood
5	chr14:72983400-72986600	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr14:72983400-72986800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr14:72983400-72986800	Enhancers	Dnd41	blood
8	chr14:72983400-72987200	Enhancers	Fetal Thymus	thymus
9	chr14:72983600-72987200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr14:72983600-72995000	Weak transcription	Colonic Mucosa	Colon
11	chr14:72983800-72986600	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr14:72983800-72987000	Enhancers	Primary hematopoietic stem cells	blood
13	chr14:72984000-72994800	Strong transcription	Cortex derived primary cultured neurospheres	brain
14	chr14:72984200-72986600	Enhancers	Primary T cells fromperipheralblood	blood
15	chr14:72984200-72990400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr14:72984200-72994400	Weak transcription	Fetal Stomach	stomach
17	chr14:72984400-73011000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr14:72984600-72988800	Weak transcription	Fetal Lung	lung
19	chr14:72984800-72987000	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr14:72984800-72989400	Weak transcription	Liver	Liver
21	chr14:72984800-72989600	Weak transcription	Ovary	ovary
22	chr14:72984800-72995400	Weak transcription	Osteobl	bone
23	chr14:72985000-72986600	Flanking Active TSS	GM12878-XiMat	blood
24	chr14:72985000-72988800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr14:72985600-72986600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr14:72985600-72987000	Weak transcription	HSMM	muscle
27	chr14:72985600-72990000	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr14:72985800-72986600	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr14:72985800-72986600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
30	chr14:72985800-72987000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr14:72985800-72989800	Weak transcription	Adipose Nuclei	Adipose
32	chr14:72985800-72990000	Weak transcription	Spleen	Spleen
33	chr14:72986000-72986600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr14:72986000-72986800	Enhancers	Primary T cells from cord blood	blood
35	chr14:72986000-72987400	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr14:72986000-72987800	Enhancers	Primary B cells from cord blood	blood
37	chr14:72986200-72986600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr14:72986200-72986600	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr14:72986200-72986800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
40	chr14:72986200-72986800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr14:72986200-72987600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr14:72986200-72988800	Weak transcription	Fetal Heart	heart
43	chr14:72986400-72986600	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr14:72986400-72995000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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