Variant report

Variant	rs12587924
Chromosome Location	chr14:64590646-64590647
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:64588914..64590681-chr14:64970201..64971798,2	MCF-7	breast:
2	chr14:64583762..64587763-chr14:64588622..64591587,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000089775	Chromatin interaction
ENSG00000126804	Chromatin interaction
ENSG00000054654	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10047814	0.92[ASN][1000 genomes]
rs10047901	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10136099	0.85[ASN][1000 genomes]
rs10136662	0.90[ASN][1000 genomes]
rs10137370	0.95[ASN][1000 genomes]
rs10137426	1.00[ASN][1000 genomes]
rs10137665	0.82[ASN][1000 genomes]
rs10142318	0.90[ASN][1000 genomes]
rs10142480	0.90[ASN][1000 genomes]
rs10151446	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11158531	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11158532	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11849394	0.95[ASN][1000 genomes]
rs12147438	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12587140	0.83[ASN][1000 genomes]
rs12590062	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2184288	0.91[ASN][1000 genomes]
rs34994562	0.85[ASN][1000 genomes]
rs45472593	0.91[ASN][1000 genomes]
rs57018718	0.95[ASN][1000 genomes]
rs57034528	0.86[ASN][1000 genomes]
rs7140578	1.00[ASN][1000 genomes]
rs7158393	0.91[ASN][1000 genomes]
rs7159213	0.95[ASN][1000 genomes]
rs7160091	0.91[ASN][1000 genomes]
rs7161361	1.00[ASN][1000 genomes]
rs8003196	0.91[ASN][1000 genomes]
rs8021831	0.91[ASN][1000 genomes]
rs8022222	0.80[ASN][1000 genomes]
rs8023139	0.91[ASN][1000 genomes]
rs9323446	1.00[ASN][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	nsv902019	chr14:64395569-64882380	Enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv456326	chr14:64420413-64754361	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv564905	chr14:64420413-64754361	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64466600-64593200	Weak transcription	Colon Smooth Muscle	Colon
2	chr14:64519400-64592000	Weak transcription	Fetal Brain Male	brain
3	chr14:64544000-64616200	Strong transcription	Primary T cells fromperipheralblood	blood
4	chr14:64548400-64590800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr14:64562800-64596200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr14:64567200-64616200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr14:64567400-64647200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr14:64574600-64591800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr14:64577800-64616200	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr14:64578200-64649000	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr14:64578600-64649000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:64579600-64611000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr14:64580600-64600200	Weak transcription	Stomach Mucosa	stomach
14	chr14:64581000-64592200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr14:64581200-64593200	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr14:64581400-64592600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr14:64581400-64613400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr14:64581800-64650400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr14:64582200-64596600	Weak transcription	Psoas Muscle	Psoas
20	chr14:64583400-64649000	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr14:64583600-64605400	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr14:64583600-64611800	Strong transcription	Dnd41	blood
23	chr14:64583600-64638000	Strong transcription	Placenta	Placenta
24	chr14:64584400-64616000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr14:64584600-64607000	Weak transcription	HUVEC	blood vessel
26	chr14:64584600-64623000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr14:64584800-64605400	Strong transcription	Rectal Mucosa Donor 31	rectum
28	chr14:64585400-64613400	Weak transcription	HSMM	muscle
29	chr14:64585600-64607400	Strong transcription	Sigmoid Colon	Sigmoid Colon
30	chr14:64585600-64615600	Strong transcription	Duodenum Mucosa	Duodenum
31	chr14:64585800-64614400	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr14:64586000-64649000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr14:64586200-64597400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr14:64586200-64602600	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr14:64586400-64599600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr14:64586400-64631800	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr14:64586600-64603800	Weak transcription	HSMMtube	muscle
38	chr14:64586600-64614000	Weak transcription	Fetal Heart	heart
39	chr14:64587200-64594200	Strong transcription	Fetal Intestine Small	intestine
40	chr14:64587200-64594200	Strong transcription	Fetal Stomach	stomach
41	chr14:64587200-64601200	Strong transcription	Ovary	ovary
42	chr14:64587400-64591800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr14:64587600-64593200	Strong transcription	Skeletal Muscle Female	skeletal muscle
44	chr14:64587600-64597000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr14:64587600-64597000	Strong transcription	Left Ventricle	heart
46	chr14:64587600-64601400	Strong transcription	Fetal Muscle Leg	muscle
47	chr14:64587800-64590800	Strong transcription	Skeletal Muscle Male	skeletal muscle
48	chr14:64587800-64590800	Strong transcription	GM12878-XiMat	blood
49	chr14:64587800-64593800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr14:64587800-64597600	Strong transcription	Thymus	Thymus

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