Variant report

Variant	rs12432480
Chromosome Location	chr14:69503980-69503981
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:69503673..69505279-chr14:69507690..69509236,2	MCF-7	breast:
2	chr14:69444651..69447583-chr14:69502257..69504596,2	MCF-7	breast:
3	chr14:69492929..69495607-chr14:69501759..69504340,2	MCF-7	breast:
4	chr14:69502361..69504492-chr14:69504635..69507504,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259062	Chromatin interaction
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]
rs10129665	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10132222	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10138663	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10144812	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10151042	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10220411	1.00[CHB][hapmap]
rs12434390	0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1275202	1.00[CHB][hapmap]
rs1400194	0.90[CEU][hapmap];1.00[CHB][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs242093	1.00[CHB][hapmap]
rs28527397	0.90[AMR][1000 genomes]
rs28575021	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28694601	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4509951	0.90[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72718250	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72718251	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72718259	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8022893	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs910844	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs910845	0.90[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs910846	0.91[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[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	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:50 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69501000-69506600	Enhancers	Osteobl	bone
2	chr14:69501400-69505000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr14:69501400-69505200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr14:69501600-69506200	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr14:69501800-69504400	Weak transcription	NHLF	lung
6	chr14:69501800-69506000	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr14:69502200-69504200	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr14:69502200-69508600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr14:69502400-69504800	Weak transcription	HSMM	muscle
10	chr14:69502600-69504200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr14:69502600-69505200	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr14:69502600-69508000	Weak transcription	Fetal Kidney	kidney
13	chr14:69503200-69504000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr14:69503400-69505600	Enhancers	HUVEC	blood vessel
15	chr14:69503400-69506400	Enhancers	Aorta	Aorta
16	chr14:69503400-69506600	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr14:69503400-69506600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr14:69503400-69506800	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr14:69503600-69504000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr14:69503600-69504200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr14:69503600-69504200	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr14:69503600-69504200	Enhancers	Fetal Heart	heart
23	chr14:69503600-69505000	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr14:69503600-69505200	Enhancers	K562	blood
25	chr14:69503600-69505800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr14:69503600-69505800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr14:69503600-69505800	Enhancers	Right Atrium	heart
28	chr14:69503600-69506000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr14:69503600-69506000	Enhancers	H9 Cell Line	embryonic stem cell
30	chr14:69503600-69506200	Enhancers	Right Ventricle	heart
31	chr14:69503600-69506400	Enhancers	H1 Cell Line	embryonic stem cell
32	chr14:69503600-69506400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr14:69503600-69506400	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr14:69503600-69506600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
35	chr14:69503600-69506600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr14:69503600-69506600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr14:69503600-69506600	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr14:69503600-69506600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr14:69503600-69506600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr14:69503600-69506800	Enhancers	Stomach Smooth Muscle	stomach
41	chr14:69503600-69507200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr14:69503600-69507200	Enhancers	NH-A	brain
43	chr14:69503800-69504200	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr14:69503800-69504800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr14:69503800-69505200	Enhancers	Spleen	Spleen
46	chr14:69503800-69505400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr14:69503800-69505800	Enhancers	Fetal Muscle Trunk	muscle
48	chr14:69503800-69505800	Enhancers	Left Ventricle	heart
49	chr14:69503800-69506400	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr14:69503800-69507200	Enhancers	Placenta Amnion	Placenta Amnion

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