Variant report

Variant	rs72718292
Chromosome Location	chr14:69547048-69547049
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:69443067..69446030-chr14:69546138..69547988,2	MCF-7	breast:
2	chr14:69441449..69443783-chr14:69546294..69548091,2	K562	blood:
3	chr14:69538205..69540864-chr14:69545299..69548290,2	MCF-7	breast:
4	chr14:69545451..69547104-chr14:69553790..69555545,2	K562	blood:

Variant related genes	Relation type
ENSG00000072110	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11626985	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs11627004	0.93[EUR][1000 genomes]
rs11627476	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs12147222	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs1884631	0.83[ASN][1000 genomes]
rs1950712	0.83[ASN][1000 genomes]
rs2176255	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs2877521	0.83[ASN][1000 genomes]
rs2877522	0.83[ASN][1000 genomes]
rs2877523	0.83[ASN][1000 genomes]
rs3742905	0.93[EUR][1000 genomes]
rs55975366	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56097892	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56274826	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56868917	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72718286	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72718291	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720212	0.93[EUR][1000 genomes]
rs72720218	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs72720225	1.00[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs72720241	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832823	chr14:69388853-69567638	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69518400-69557200	Weak transcription	Hela-S3	cervix
2	chr14:69522400-69556400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:69522400-69564800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr14:69523600-69550800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr14:69523600-69553400	Weak transcription	Brain Angular Gyrus	brain
6	chr14:69523600-69556400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr14:69524000-69557600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr14:69524800-69556600	Weak transcription	Fetal Brain Male	brain
9	chr14:69527000-69558200	Weak transcription	Esophagus	oesophagus
10	chr14:69528600-69547800	Weak transcription	Brain Cingulate Gyrus	brain
11	chr14:69528600-69550600	Weak transcription	Spleen	Spleen
12	chr14:69528600-69560200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr14:69528800-69550600	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr14:69535600-69565200	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr14:69536000-69553200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr14:69536200-69556400	Weak transcription	K562	blood
17	chr14:69540000-69551400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr14:69540400-69560600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr14:69540800-69549600	Weak transcription	Ovary	ovary
20	chr14:69540800-69551600	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr14:69541000-69550800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr14:69541000-69556200	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr14:69541000-69556400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr14:69541200-69550200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr14:69541400-69547800	Weak transcription	Brain Hippocampus Middle	brain
26	chr14:69541400-69548000	Weak transcription	HepG2	liver
27	chr14:69541400-69549200	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr14:69541400-69553600	Weak transcription	Brain Substantia Nigra	brain
29	chr14:69541400-69559800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr14:69541600-69548000	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr14:69541600-69550000	Weak transcription	Colonic Mucosa	Colon
32	chr14:69541600-69556400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr14:69541800-69549200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr14:69541800-69550800	Weak transcription	Brain Anterior Caudate	brain
35	chr14:69541800-69553800	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr14:69542000-69548000	Weak transcription	Adipose Nuclei	Adipose
37	chr14:69542000-69550600	Weak transcription	Fetal Brain Female	brain
38	chr14:69542000-69553200	Weak transcription	Brain Germinal Matrix	brain
39	chr14:69542000-69554600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr14:69542200-69548000	Weak transcription	Duodenum Mucosa	Duodenum
41	chr14:69542200-69548000	Weak transcription	Fetal Thymus	thymus
42	chr14:69542200-69548000	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr14:69542200-69550000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr14:69542600-69570600	Strong transcription	Primary T cells from cord blood	blood
45	chr14:69543000-69559000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr14:69543200-69547400	Enhancers	Rectal Smooth Muscle	rectum
47	chr14:69543200-69548000	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr14:69543800-69547200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr14:69543800-69547400	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr14:69543800-69547400	Enhancers	HMEC	breast

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