Variant report

Variant	rs12588412
Chromosome Location	chr14:65545286-65545287
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:65545277-65545316	HepG2	liver:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:65542410..65545761-chr14:65567808..65570933,3	MCF-7	breast:
2	chr14:65540391..65543232-chr14:65544493..65546797,2	K562	blood:
3	chr14:65529831..65531820-chr14:65543352..65545636,2	K562	blood:
4	chr14:65536598..65540126-chr14:65544399..65547466,3	MCF-7	breast:
5	chr14:65544997..65548177-chr14:65565453..65571553,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000259118	TF binding region
ENSG00000125952	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11626796	0.82[EUR][1000 genomes]
rs12101257	0.96[ASN][1000 genomes]
rs1256415	0.92[AFR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12590701	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1262269	0.91[EUR][1000 genomes]
rs12895232	0.82[EUR][1000 genomes]
rs1953230	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1953231	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1957947	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2277500	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2781371	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7151350	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7152879	0.82[ASN][1000 genomes]
rs7153893	0.84[EUR][1000 genomes]
rs945014	0.82[ASN][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	nsv832816	chr14:65473244-65644645	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 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	chr14:65471200-65546200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr14:65527600-65545600	Strong transcription	Primary T cells from cord blood	blood
3	chr14:65527800-65553600	Strong transcription	Dnd41	blood
4	chr14:65528800-65555400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr14:65530000-65553000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr14:65534000-65553600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr14:65534600-65546000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr14:65534800-65553400	Strong transcription	Thymus	Thymus
9	chr14:65535600-65545600	Strong transcription	Fetal Stomach	stomach
10	chr14:65535600-65547000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr14:65536000-65553600	Strong transcription	Fetal Thymus	thymus
12	chr14:65538400-65545600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr14:65538600-65547000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr14:65538600-65547000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr14:65538800-65545600	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr14:65538800-65553600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr14:65538800-65562000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr14:65539000-65551000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr14:65539000-65562400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr14:65539200-65545400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr14:65539200-65548800	Strong transcription	NHEK	skin
22	chr14:65539200-65550800	Strong transcription	Fetal Muscle Trunk	muscle
23	chr14:65539200-65551400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr14:65539400-65551000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr14:65539400-65552400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr14:65539600-65547200	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr14:65539600-65547400	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr14:65539600-65563200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr14:65539800-65547200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr14:65539800-65547400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr14:65539800-65553200	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr14:65540000-65546000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr14:65540400-65548000	Strong transcription	Osteobl	bone
34	chr14:65541000-65551600	Strong transcription	Muscle Satellite Cultured Cells	--
35	chr14:65541200-65545400	Strong transcription	Stomach Smooth Muscle	stomach
36	chr14:65541600-65551000	Strong transcription	NH-A	brain
37	chr14:65541600-65552400	Strong transcription	Hela-S3	cervix
38	chr14:65541800-65545600	Weak transcription	Fetal Heart	heart
39	chr14:65541800-65546000	Strong transcription	Fetal Muscle Leg	muscle
40	chr14:65541800-65546000	Weak transcription	Small Intestine	intestine
41	chr14:65541800-65546200	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr14:65541800-65549800	Strong transcription	HepG2	liver
43	chr14:65542000-65546600	Strong transcription	Rectal Mucosa Donor 31	rectum
44	chr14:65542000-65547400	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr14:65542000-65548800	Strong transcription	A549	lung
46	chr14:65542200-65545600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr14:65542200-65545800	Weak transcription	Stomach Mucosa	stomach
48	chr14:65542200-65546000	Strong transcription	Primary T cells fromperipheralblood	blood
49	chr14:65542200-65546600	Strong transcription	Duodenum Mucosa	Duodenum
50	chr14:65542200-65547200	Strong transcription	Liver	Liver

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