Variant report

Variant	rs12587614
Chromosome Location	chr14:80049046-80049047
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10483924	1.00[CEU][hapmap]
rs1080130	1.00[CEU][hapmap]
rs12587752	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs17109288	1.00[CEU][hapmap]
rs17109299	1.00[CEU][hapmap]
rs17109308	1.00[CEU][hapmap]
rs17109317	1.00[CEU][hapmap]
rs17109338	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs17109362	1.00[CEU][hapmap]
rs17109409	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs17109418	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17109448	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs17109473	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs17109557	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17109577	0.90[ASN][1000 genomes]
rs17109652	0.89[EUR][1000 genomes]
rs17109654	0.89[EUR][1000 genomes]
rs2371057	1.00[EUR][1000 genomes]
rs4448862	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs59693725	0.97[ASN][1000 genomes]
rs6574509	1.00[CEU][hapmap]
rs7145991	1.00[CEU][hapmap]
rs7153889	1.00[CEU][hapmap]
rs7158959	1.00[CEU][hapmap]
rs8015537	1.00[CEU][hapmap]
rs920122	1.00[EUR][1000 genomes]
rs920123	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs9806079	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045241	chr14:79885361-80734201	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1039622	chr14:79908702-80266601	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv902112	chr14:79939393-80050771	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv869542	chr14:80009619-80118315	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:80011800-80069200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr14:80040000-80049400	Weak transcription	HSMM	muscle
3	chr14:80042200-80051200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr14:80043600-80050600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr14:80045000-80052200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr14:80045000-80052200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr14:80045200-80049400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr14:80045200-80050800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr14:80045200-80057000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr14:80045200-80062200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr14:80047200-80050600	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr14:80047200-80052400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr14:80047400-80052200	Weak transcription	Fetal Heart	heart
14	chr14:80047400-80057000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr14:80047600-80049800	Enhancers	A549	lung
16	chr14:80047600-80050600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr14:80047600-80052200	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr14:80047600-80068800	Weak transcription	Rectal Smooth Muscle	rectum
19	chr14:80047800-80052200	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr14:80048000-80050000	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr14:80048000-80051000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr14:80048000-80053800	Enhancers	Muscle Satellite Cultured Cells	--
23	chr14:80048200-80049800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr14:80048200-80050000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr14:80048200-80052400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr14:80048200-80053400	Enhancers	NHEK	skin
27	chr14:80048400-80050600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr14:80048400-80050800	Enhancers	Hela-S3	cervix
29	chr14:80048400-80053600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr14:80048400-80053600	Enhancers	Osteobl	bone
31	chr14:80048400-80054200	Enhancers	NHLF	lung
32	chr14:80048600-80049400	Weak transcription	HSMMtube	muscle
33	chr14:80048600-80049600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr14:80048600-80050400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr14:80048600-80050400	Weak transcription	NHDF-Ad	bronchial
36	chr14:80048600-80050600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr14:80048600-80050800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr14:80048800-80049200	Weak transcription	NH-A	brain
39	chr14:80049000-80053200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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