Variant report

Variant	rs72715588
Chromosome Location	chr14:55521727-55521728
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:55520859..55523802-chr14:55596862..55599089,2	MCF-7	breast:
2	chr14:55518259..55522048-chr14:55593067..55596290,3	K562	blood:
3	chr14:55519592..55523074-chr14:55547294..55549718,3	K562	blood:
4	chr14:55520461..55523656-chr14:55547277..55549702,3	K562	blood:
5	chr14:55491083..55496744-chr14:55514437..55523536,23	MCF-7	breast:
6	chr14:55501256..55503493-chr14:55519727..55521826,2	K562	blood:
7	chr14:55490790..55495805-chr14:55515486..55522658,19	MCF-7	breast:
8	chr14:55516981..55523073-chr14:55594365..55600344,10	MCF-7	breast:
9	chr14:55367425..55371142-chr14:55516489..55521777,7	MCF-7	breast:
10	chr14:55488932..55491816-chr14:55519690..55522183,2	K562	blood:
11	chr14:55521252..55522214-chr20:47444670..47445402,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000131979	Chromatin interaction
ENSG00000180008	Chromatin interaction
ENSG00000198554	Chromatin interaction
ENSG00000131981	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs17128147	1.00[EUR][1000 genomes]
rs35954941	0.86[EUR][1000 genomes]
rs58481989	1.00[EUR][1000 genomes]
rs72715590	1.00[EUR][1000 genomes]
rs72715591	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72715592	1.00[EUR][1000 genomes]
rs72716642	1.00[EUR][1000 genomes]
rs72716643	1.00[EUR][1000 genomes]
rs72716648	1.00[EUR][1000 genomes]
rs72716652	1.00[EUR][1000 genomes]
rs72716654	1.00[EUR][1000 genomes]
rs72716661	1.00[EUR][1000 genomes]
rs72716663	0.86[EUR][1000 genomes]
rs72716665	0.86[EUR][1000 genomes]
rs72716666	0.86[EUR][1000 genomes]
rs72716668	0.86[EUR][1000 genomes]
rs72716676	0.86[EUR][1000 genomes]
rs72716677	0.86[EUR][1000 genomes]
rs72716678	0.86[EUR][1000 genomes]
rs72716681	0.86[EUR][1000 genomes]
rs72716688	0.86[EUR][1000 genomes]
rs72716690	0.86[EUR][1000 genomes]
rs72716692	0.86[EUR][1000 genomes]
rs72716698	0.86[EUR][1000 genomes]
rs72718806	0.86[EUR][1000 genomes]
rs72718810	0.86[EUR][1000 genomes]
rs72718813	0.86[EUR][1000 genomes]
rs72718815	0.86[EUR][1000 genomes]
rs72718818	0.86[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	nsv932970	chr14:55326559-55532749	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55519200-55529400	Weak transcription	Spleen	Spleen
2	chr14:55519400-55524000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr14:55519400-55524600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr14:55519400-55529200	Weak transcription	Pancreas	Pancrea
5	chr14:55519600-55522800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr14:55519600-55523000	Genic enhancers	Primary T cells fromperipheralblood	blood
7	chr14:55519600-55524600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:55519600-55524800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr14:55519600-55528600	Weak transcription	Colonic Mucosa	Colon
10	chr14:55519600-55529400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr14:55519600-55529400	Weak transcription	Esophagus	oesophagus
12	chr14:55519600-55534400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr14:55519600-55538000	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr14:55519800-55522400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr14:55519800-55523200	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr14:55519800-55523400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr14:55519800-55524200	Weak transcription	Lung	lung
18	chr14:55519800-55526200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr14:55520000-55521800	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr14:55520000-55522000	Weak transcription	Fetal Muscle Leg	muscle
21	chr14:55520000-55522200	Strong transcription	Placenta	Placenta
22	chr14:55520000-55522600	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
23	chr14:55520000-55522800	Enhancers	Small Intestine	intestine
24	chr14:55520000-55523800	Enhancers	Primary T helper naive cells from peripheral blood	blood
25	chr14:55520000-55526000	Weak transcription	Brain Hippocampus Middle	brain
26	chr14:55520000-55528600	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr14:55520000-55529400	Weak transcription	Aorta	Aorta
28	chr14:55520000-55529400	Weak transcription	Fetal Brain Female	brain
29	chr14:55520200-55522000	Genic enhancers	Cortex derived primary cultured neurospheres	brain
30	chr14:55520200-55522000	Weak transcription	Fetal Thymus	thymus
31	chr14:55520200-55522400	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr14:55520200-55522400	Genic enhancers	K562	blood
33	chr14:55520200-55522400	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr14:55520200-55522600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr14:55520200-55522600	Strong transcription	Fetal Muscle Trunk	muscle
36	chr14:55520200-55528000	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr14:55520200-55528400	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr14:55520200-55529000	Weak transcription	Brain Anterior Caudate	brain
39	chr14:55520200-55529000	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr14:55520200-55529200	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr14:55520200-55529600	Weak transcription	Brain Cingulate Gyrus	brain
42	chr14:55520200-55538400	Weak transcription	Fetal Kidney	kidney
43	chr14:55520400-55521800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr14:55520400-55522000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr14:55520400-55522200	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr14:55520400-55522400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
47	chr14:55520400-55522400	Strong transcription	NH-A	brain
48	chr14:55520400-55522600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr14:55520400-55522600	Weak transcription	Duodenum Mucosa	Duodenum
50	chr14:55520400-55522600	Enhancers	Left Ventricle	heart

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