Variant report

Variant	rs12880377
Chromosome Location	chr14:81680728-81680729
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:81630975..81634065-chr14:81679806..81681376,3	K562	blood:
2	chr14:81656769..81659084-chr14:81679590..81681923,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10131728	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12878339	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12878477	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12878503	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12879576	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12880414	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12880512	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12883359	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12883532	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12884270	0.84[AMR][1000 genomes]
rs12891586	0.92[AMR][1000 genomes]
rs12891828	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12892815	0.92[AMR][1000 genomes]
rs12892839	0.92[AMR][1000 genomes]
rs12893436	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12894001	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12894318	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12895990	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17630746	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35446669	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4592586	0.96[AMR][1000 genomes];0.99[EUR][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	nsv832841	chr14:81588322-81743921	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	86 gene(s)	inside rSNPs	diseases
2	nsv902117	chr14:81643800-81682392	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a
3	nsv902118	chr14:81679650-81715989	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	84 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81637000-81683800	Weak transcription	Small Intestine	intestine
2	chr14:81643800-81683200	Strong transcription	HUES64 Cell Line	embryonic stem cell
3	chr14:81644200-81683600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
4	chr14:81644600-81685400	Weak transcription	Right Ventricle	heart
5	chr14:81651000-81685000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr14:81652600-81685400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr14:81654200-81683200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr14:81656600-81682800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr14:81656600-81683000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
10	chr14:81656600-81683400	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr14:81660800-81685400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:81661000-81685400	Weak transcription	Aorta	Aorta
13	chr14:81662600-81684600	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr14:81662800-81685400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr14:81663000-81683200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr14:81663000-81683800	Weak transcription	Fetal Brain Male	brain
17	chr14:81666400-81683400	Strong transcription	H1 Cell Line	embryonic stem cell
18	chr14:81666800-81685000	Weak transcription	Stomach Mucosa	stomach
19	chr14:81667000-81682800	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr14:81667000-81682800	Strong transcription	Fetal Thymus	thymus
21	chr14:81667400-81683200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr14:81667600-81684000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr14:81667800-81682000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr14:81669600-81684600	Weak transcription	HSMMtube	muscle
25	chr14:81670600-81685200	Weak transcription	Rectal Smooth Muscle	rectum
26	chr14:81671200-81683400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr14:81672600-81682400	Strong transcription	Fetal Intestine Large	intestine
28	chr14:81672800-81684600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr14:81673600-81683600	ZNF genes & repeats	GM12878-XiMat	blood
30	chr14:81674000-81681600	Weak transcription	Fetal Brain Female	brain
31	chr14:81674000-81684000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr14:81674000-81685000	Weak transcription	Stomach Smooth Muscle	stomach
33	chr14:81674000-81685400	Weak transcription	Colonic Mucosa	Colon
34	chr14:81674200-81681600	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr14:81674400-81681200	Weak transcription	HUVEC	blood vessel
36	chr14:81675000-81681800	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr14:81675200-81681600	Weak transcription	Ovary	ovary
38	chr14:81675200-81683800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr14:81675200-81683800	Weak transcription	Lung	lung
40	chr14:81675200-81685000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr14:81675200-81685400	Weak transcription	Pancreas	Pancrea
42	chr14:81675200-81685600	Weak transcription	Gastric	stomach
43	chr14:81675400-81681000	Weak transcription	Adipose Nuclei	Adipose
44	chr14:81675400-81683800	Weak transcription	Spleen	Spleen
45	chr14:81675400-81685400	Weak transcription	Esophagus	oesophagus
46	chr14:81675600-81683400	Strong transcription	HSMM	muscle
47	chr14:81675600-81684600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr14:81675800-81682000	Strong transcription	HMEC	breast
49	chr14:81676000-81681200	Weak transcription	Brain Hippocampus Middle	brain
50	chr14:81676000-81682800	Strong transcription	Hela-S3	cervix

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