Variant report

Variant	rs12434390
Chromosome Location	chr14:69506574-69506575
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:69502361..69504492-chr14:69504635..69507504,3	MCF-7	breast:
2	chr14:69504745..69507053-chr14:69509221..69511186,2	K562	blood:
3	chr14:69504480..69506632-chr14:69509556..69511632,2	MCF-7	breast:
4	chr14:69504422..69507358-chr14:69508879..69511159,3	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10129665	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10132222	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10138663	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10144812	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10151042	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10220411	1.00[CHB][hapmap]
rs12432480	0.90[CEU][hapmap];1.00[CHB][hapmap];0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1275202	1.00[CHB][hapmap]
rs1400194	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.87[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs242093	1.00[CHB][hapmap]
rs28527397	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28575021	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28694601	0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4509951	1.00[CEU][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72718250	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72718251	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72718259	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8022893	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs910844	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs910845	1.00[CEU][hapmap];0.87[CHD][hapmap];1.00[GIH][hapmap];0.87[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs910846	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.95[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	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:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69501000-69506600	Enhancers	Osteobl	bone
2	chr14:69502200-69508600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr14:69502600-69508000	Weak transcription	Fetal Kidney	kidney
4	chr14:69503400-69506600	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr14:69503400-69506600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr14:69503400-69506800	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr14:69503600-69506600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
8	chr14:69503600-69506600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr14:69503600-69506600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr14:69503600-69506600	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr14:69503600-69506600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr14:69503600-69506600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr14:69503600-69506800	Enhancers	Stomach Smooth Muscle	stomach
14	chr14:69503600-69507200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr14:69503600-69507200	Enhancers	NH-A	brain
16	chr14:69503800-69507200	Enhancers	Placenta Amnion	Placenta Amnion
17	chr14:69504000-69506600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr14:69504000-69506600	Enhancers	A549	lung
19	chr14:69504000-69508400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr14:69504200-69506600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr14:69504200-69506600	Enhancers	Muscle Satellite Cultured Cells	--
22	chr14:69504400-69506600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr14:69504600-69506600	Enhancers	HSMMtube	muscle
24	chr14:69504600-69506800	Enhancers	Colon Smooth Muscle	Colon
25	chr14:69504800-69506600	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr14:69504800-69506600	Enhancers	HSMM	muscle
27	chr14:69504800-69508400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr14:69504800-69508600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr14:69504800-69509600	Weak transcription	Pancreas	Pancrea
30	chr14:69505000-69508600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr14:69505200-69509600	Weak transcription	Spleen	Spleen
32	chr14:69505400-69506600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr14:69505400-69506600	Enhancers	Hela-S3	cervix
34	chr14:69505400-69506800	Enhancers	HMEC	breast
35	chr14:69505400-69510000	Weak transcription	Fetal Heart	heart
36	chr14:69505400-69510200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr14:69505800-69508800	Weak transcription	Ovary	ovary
38	chr14:69505800-69509200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr14:69505800-69509200	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr14:69505800-69509600	Weak transcription	Esophagus	oesophagus
41	chr14:69505800-69509600	Weak transcription	Fetal Muscle Trunk	muscle
42	chr14:69505800-69509800	Weak transcription	Placenta	Placenta
43	chr14:69505800-69509800	Weak transcription	Left Ventricle	heart
44	chr14:69505800-69509800	Weak transcription	Right Atrium	heart
45	chr14:69505800-69510600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr14:69505800-69510800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr14:69506000-69507000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr14:69506000-69507200	Enhancers	HUVEC	blood vessel
49	chr14:69506000-69508600	Weak transcription	Brain Angular Gyrus	brain
50	chr14:69506000-69508800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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