Variant report

Variant	rs4902249
Chromosome Location	chr14:64341857-64341858
allele	C/T
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]
rs1000904	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10873171	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12435958	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12436656	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12587452	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12590842	0.80[ASN][1000 genomes]
rs12893838	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2151763	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2357001	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34486661	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35234298	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36050513	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4902251	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4902252	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55925976	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60305436	0.80[ASN][1000 genomes]
rs61985747	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61985748	0.80[ASN][1000 genomes]
rs6573532	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6573533	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6573535	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6573536	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67106029	0.80[ASN][1000 genomes]
rs67975797	0.80[ASN][1000 genomes]
rs7144370	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7145302	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7145736	0.80[ASN][1000 genomes]
rs7145810	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7146469	0.80[ASN][1000 genomes]
rs7149609	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7150540	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7153723	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7158960	0.92[ASN][1000 genomes]
rs7161586	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8004989	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8009846	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8010094	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8013611	0.82[ASN][1000 genomes]
rs8016321	0.80[ASN][1000 genomes]
rs8017009	0.80[ASN][1000 genomes]
rs945031	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs951249	0.80[ASN][1000 genomes]
rs951250	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[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:100 , 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	chr14:64335200-64342200	Weak transcription	Placenta	Placenta
9	chr14:64335200-64342200	Weak transcription	Pancreas	Pancrea
10	chr14:64335200-64360000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr14:64335800-64342000	Weak transcription	Colon Smooth Muscle	Colon
12	chr14:64336800-64362800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr14:64337000-64342000	Weak transcription	Liver	Liver
14	chr14:64337000-64342000	Weak transcription	Osteobl	bone
15	chr14:64337000-64342200	Weak transcription	Stomach Smooth Muscle	stomach
16	chr14:64337000-64342400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr14:64337000-64343600	Weak transcription	Fetal Intestine Large	intestine
18	chr14:64337000-64357200	Weak transcription	Duodenum Mucosa	Duodenum
19	chr14:64337000-64365200	Weak transcription	Fetal Thymus	thymus
20	chr14:64337600-64342600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr14:64337600-64343600	Weak transcription	A549	lung
22	chr14:64337800-64342000	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr14:64337800-64403800	Weak transcription	Thymus	Thymus
24	chr14:64338000-64353800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr14:64338000-64355200	Weak transcription	Primary B cells from cord blood	blood
26	chr14:64339400-64366800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr14:64340000-64342400	Enhancers	HMEC	breast
28	chr14:64340000-64342800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr14:64340200-64342200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr14:64340200-64342800	Enhancers	Adipose Nuclei	Adipose
31	chr14:64340200-64344000	Enhancers	Left Ventricle	heart
32	chr14:64340400-64342400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr14:64340400-64342800	Enhancers	Ovary	ovary
34	chr14:64340400-64343000	Enhancers	Fetal Heart	heart
35	chr14:64340400-64343600	Enhancers	Right Atrium	heart
36	chr14:64340400-64345600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr14:64340600-64342600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr14:64340600-64342800	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr14:64340600-64343000	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr14:64340600-64343600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr14:64340600-64343800	Enhancers	Psoas Muscle	Psoas
42	chr14:64340600-64345000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr14:64340600-64345200	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr14:64340800-64342000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr14:64340800-64342600	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr14:64340800-64342800	Enhancers	Hela-S3	cervix
47	chr14:64341000-64342400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr14:64341000-64342600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr14:64341000-64342600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr14:64341000-64342800	Enhancers	Sigmoid Colon	Sigmoid Colon

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