Variant report

Variant	rs12590842
Chromosome Location	chr14:64341709-64341710
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11158515	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11158518	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11626911	0.94[ASN][1000 genomes]
rs11628650	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12161903	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12431956	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12432760	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12586461	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17750888	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17750906	0.94[ASN][1000 genomes]
rs34486661	0.80[ASN][1000 genomes]
rs4899121	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4902249	0.80[ASN][1000 genomes]
rs4902253	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56376318	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56401218	0.81[ASN][1000 genomes]
rs60305436	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61985718	0.80[ASN][1000 genomes]
rs61985726	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61985748	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs66460676	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs66764453	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67011590	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67106029	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67975797	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7140278	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7143794	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7145302	0.80[ASN][1000 genomes]
rs7145736	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7146469	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7149405	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7149609	0.80[ASN][1000 genomes]
rs73276854	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8008800	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8010312	0.85[ASN][1000 genomes]
rs8010385	0.93[ASN][1000 genomes]
rs8013611	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8015374	0.80[ASN][1000 genomes]
rs8016321	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8017009	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs951249	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs951250	0.80[ASN][1000 genomes]
rs998242	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][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	nsv915909	chr14:63620440-64560369	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1038825	chr14:64109441-64491720	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1037140	chr14:64248421-64442980	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv542119	chr14:64248421-64442980	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64321400-64350200	Weak transcription	Fetal Stomach	stomach
2	chr14:64327400-64355200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr14:64327600-64360000	Weak transcription	Gastric	stomach
4	chr14:64327800-64342200	Weak transcription	Esophagus	oesophagus
5	chr14:64330200-64343600	Weak transcription	Brain Germinal Matrix	brain
6	chr14:64331200-64356400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr14:64331400-64342200	Weak transcription	NHLF	lung
8	chr14:64331600-64341800	Weak transcription	NHDF-Ad	bronchial
9	chr14:64335200-64341800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr14:64335200-64342200	Weak transcription	Placenta	Placenta
11	chr14:64335200-64342200	Weak transcription	Pancreas	Pancrea
12	chr14:64335200-64360000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr14:64335800-64342000	Weak transcription	Colon Smooth Muscle	Colon
14	chr14:64336800-64362800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr14:64337000-64341800	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr14:64337000-64342000	Weak transcription	Liver	Liver
17	chr14:64337000-64342000	Weak transcription	Osteobl	bone
18	chr14:64337000-64342200	Weak transcription	Stomach Smooth Muscle	stomach
19	chr14:64337000-64342400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr14:64337000-64343600	Weak transcription	Fetal Intestine Large	intestine
21	chr14:64337000-64357200	Weak transcription	Duodenum Mucosa	Duodenum
22	chr14:64337000-64365200	Weak transcription	Fetal Thymus	thymus
23	chr14:64337600-64342600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr14:64337600-64343600	Weak transcription	A549	lung
25	chr14:64337800-64342000	Weak transcription	Primary neutrophils fromperipheralblood	blood
26	chr14:64337800-64403800	Weak transcription	Thymus	Thymus
27	chr14:64338000-64353800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr14:64338000-64355200	Weak transcription	Primary B cells from cord blood	blood
29	chr14:64339400-64366800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr14:64340000-64342400	Enhancers	HMEC	breast
31	chr14:64340000-64342800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr14:64340200-64342200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr14:64340200-64342800	Enhancers	Adipose Nuclei	Adipose
34	chr14:64340200-64344000	Enhancers	Left Ventricle	heart
35	chr14:64340400-64341800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
36	chr14:64340400-64342400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr14:64340400-64342800	Enhancers	Ovary	ovary
38	chr14:64340400-64343000	Enhancers	Fetal Heart	heart
39	chr14:64340400-64343600	Enhancers	Right Atrium	heart
40	chr14:64340400-64345600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr14:64340600-64342600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr14:64340600-64342800	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr14:64340600-64343000	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr14:64340600-64343600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr14:64340600-64343800	Enhancers	Psoas Muscle	Psoas
46	chr14:64340600-64345000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr14:64340600-64345200	Enhancers	Rectal Mucosa Donor 31	rectum
48	chr14:64340800-64342000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr14:64340800-64342600	Enhancers	Duodenum Smooth Muscle	Duodenum
50	chr14:64340800-64342800	Enhancers	Hela-S3	cervix

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