Variant report

Variant	rs12434551
Chromosome Location	chr14:69253364-69253365
allele	A/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:58)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:58 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr14:69095355..69099854-chr14:69250960..69255583,6	MCF-7	breast:
2	chr14:69090615..69103406-chr14:69249821..69264188,29	MCF-7	breast:
3	chr14:69177394..69179391-chr14:69252798..69254946,2	K562	blood:
4	chr14:69204312..69206697-chr14:69251799..69254255,2	K562	blood:
5	chr14:69252105..69254331-chr7:155601869..155604492,2	MCF-7	breast:
6	chr14:69128588..69133050-chr14:69253079..69257196,5	MCF-7	breast:
7	chr14:68407933..68410630-chr14:69252286..69254725,3	MCF-7	breast:
8	chr14:69150930..69152614-chr14:69251303..69253667,2	MCF-7	breast:
9	chr1:149222906..149224972-chr14:69253180..69255841,2	MCF-7	breast:
10	chr14:68351021..68355555-chr14:69252888..69257229,4	MCF-7	breast:
11	chr14:68641461..68644387-chr14:69250543..69254390,3	MCF-7	breast:
12	chr14:68941663..68944828-chr14:69250861..69253636,3	MCF-7	breast:
13	chr14:69219042..69221394-chr14:69250873..69253733,2	MCF-7	breast:
14	chr14:68400013..68402896-chr14:69251166..69253884,2	MCF-7	breast:
15	chr14:69163375..69164985-chr14:69252113..69253661,2	MCF-7	breast:
16	chr14:68714423..68716152-chr14:69252930..69254680,2	K562	blood:
17	chr14:69251493..69253776-chr16:2254410..2257128,2	MCF-7	breast:
18	chr14:68930492..68947840-chr14:69251918..69264148,62	MCF-7	breast:
19	chr14:69218982..69221313-chr14:69251306..69253828,3	MCF-7	breast:
20	chr14:68704238..68708340-chr14:69251416..69255393,5	MCF-7	breast:
21	chr14:69050025..69052372-chr14:69251168..69253724,2	MCF-7	breast:
22	chr14:69189213..69193249-chr14:69249817..69253831,4	MCF-7	breast:
23	chr14:68958868..68960995-chr14:69252275..69254808,2	MCF-7	breast:
24	chr14:69175919..69179452-chr14:69252048..69254432,3	MCF-7	breast:
25	chr14:68834932..68837443-chr14:69252432..69254129,2	MCF-7	breast:
26	chr14:68876240..68877948-chr14:69253264..69255606,2	MCF-7	breast:
27	chr14:69054452..69058686-chr14:69249853..69254831,4	MCF-7	breast:
28	chr14:68605789..68607754-chr14:69253022..69255684,2	MCF-7	breast:
29	chr14:68658549..68661860-chr14:69250890..69254751,3	MCF-7	breast:
30	chr14:68881675..68884365-chr14:69252579..69254360,2	MCF-7	breast:
31	chr14:68681266..68683165-chr14:69251236..69254118,2	MCF-7	breast:
32	chr14:68299804..68301953-chr14:69252103..69254341,2	MCF-7	breast:
33	chr14:68951909..68954221-chr14:69252070..69254907,3	MCF-7	breast:
34	chr14:68855776..68858579-chr14:69251662..69254068,2	MCF-7	breast:
35	chr14:69043850..69046166-chr14:69253123..69255175,2	MCF-7	breast:
36	chr14:68740444..68743175-chr14:69252311..69254670,3	MCF-7	breast:
37	chr14:69172503..69174467-chr14:69252049..69253915,2	MCF-7	breast:
38	chr14:69179231..69184883-chr14:69249659..69253927,5	MCF-7	breast:
39	chr14:69159721..69161341-chr14:69251860..69253387,2	MCF-7	breast:
40	chr14:68827778..68831796-chr14:69251511..69256304,4	MCF-7	breast:
41	chr14:68659031..68663058-chr14:69251667..69256012,5	MCF-7	breast:
42	chr14:68850472..68852853-chr14:69251979..69254595,2	MCF-7	breast:
43	chr14:68744987..68750260-chr14:69250111..69256950,7	MCF-7	breast:
44	chr14:68697979..68700527-chr14:69251377..69254277,2	MCF-7	breast:
45	chr14:68405495..68411980-chr14:69250946..69254866,9	MCF-7	breast:
46	chr14:69197485..69199211-chr14:69252753..69254670,2	MCF-7	breast:
47	chr14:69232699..69236940-chr14:69253332..69256719,3	K562	blood:
48	chr14:68986084..68990937-chr14:69249749..69255560,7	MCF-7	breast:
49	chr14:68928235..68931099-chr14:69252310..69254184,2	MCF-7	breast:
50	chr14:69193445..69195647-chr14:69250713..69253431,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000252958	Chromatin interaction
ENSG00000258623	Chromatin interaction
ENSG00000242941	Chromatin interaction
ENSG00000259038	Chromatin interaction
ENSG00000167965	Chromatin interaction
ENSG00000206737	Chromatin interaction
ENSG00000182185	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11158762	0.84[JPT][hapmap]
rs11158763	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12435329	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12889006	1.00[CEU][hapmap];0.89[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2236262	0.89[JPT][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34489253	0.80[AMR][1000 genomes]
rs3825568	0.91[CEU][hapmap];0.89[JPT][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4899257	0.91[AMR][1000 genomes]
rs4902647	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7146217	0.94[CHB][hapmap];0.89[JPT][hapmap];0.92[ASN][1000 genomes]
rs7146491	0.90[ASN][1000 genomes]
rs8022092	0.80[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	nsv1035267	chr14:69230254-69348126	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
2	nsv542123	chr14:69230254-69348126	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
3	nsv902070	chr14:69244214-69308182	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12434551	ZFP36L1	cis	normal skin	skin_eQTL
rs12434551	ZFP36L1	cis	uninvolved skin	skin_eQTL
rs12434551	ZFP36L1	cis	lesional skin	skin_eQTL

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69244400-69253600	Enhancers	Stomach Mucosa	stomach
2	chr14:69248000-69254000	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr14:69248000-69254000	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr14:69248200-69253400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr14:69248200-69253400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr14:69248200-69253400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr14:69248200-69253600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr14:69248200-69253600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr14:69248200-69254000	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr14:69248200-69254000	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr14:69248200-69255800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:69248400-69253400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr14:69248400-69253400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr14:69248400-69253600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr14:69248400-69253600	Weak transcription	Brain Hippocampus Middle	brain
16	chr14:69248400-69253600	Weak transcription	Psoas Muscle	Psoas
17	chr14:69248400-69253800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr14:69248400-69253800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr14:69248400-69254000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr14:69248400-69255800	Weak transcription	Brain Anterior Caudate	brain
21	chr14:69248600-69253400	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr14:69248600-69253600	Weak transcription	Rectal Smooth Muscle	rectum
23	chr14:69248600-69253600	Weak transcription	HSMMtube	muscle
24	chr14:69248600-69253800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr14:69248600-69255000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr14:69248600-69255800	Weak transcription	Brain Angular Gyrus	brain
27	chr14:69248800-69253600	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr14:69248800-69255200	Weak transcription	Primary hematopoietic stem cells	blood
29	chr14:69249000-69253600	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr14:69249000-69253800	Weak transcription	Brain Substantia Nigra	brain
31	chr14:69249000-69255200	Weak transcription	Fetal Brain Male	brain
32	chr14:69249200-69253800	Weak transcription	Right Ventricle	heart
33	chr14:69249200-69254000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr14:69249400-69253600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr14:69249400-69253600	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr14:69249400-69254200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr14:69249600-69255200	Weak transcription	Dnd41	blood
38	chr14:69249800-69254000	Weak transcription	Ovary	ovary
39	chr14:69250000-69253400	Enhancers	Primary T cells fromperipheralblood	blood
40	chr14:69250000-69253400	Weak transcription	Colon Smooth Muscle	Colon
41	chr14:69250000-69253400	Weak transcription	Right Atrium	heart
42	chr14:69250600-69253400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr14:69250600-69253400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr14:69250600-69253600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr14:69250600-69253600	Enhancers	Pancreas	Pancrea
46	chr14:69250800-69253400	Enhancers	NHEK	skin
47	chr14:69250800-69253600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr14:69250800-69253600	Enhancers	Lung	lung
49	chr14:69250800-69253600	Enhancers	HMEC	breast
50	chr14:69250800-69254000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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