Variant report

Variant	rs28483877
Chromosome Location	chr14:64465339-64465340
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10149728	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10498512	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11623650	0.88[EUR][1000 genomes]
rs1255856	0.87[EUR][1000 genomes]
rs1255867	0.96[EUR][1000 genomes]
rs1255869	0.96[EUR][1000 genomes]
rs1255872	0.96[EUR][1000 genomes]
rs1255873	0.96[EUR][1000 genomes]
rs1255874	0.96[EUR][1000 genomes]
rs1255875	0.96[EUR][1000 genomes]
rs1255876	0.96[EUR][1000 genomes]
rs1255877	0.95[EUR][1000 genomes]
rs1255878	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1255879	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1255880	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1255881	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1255882	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1255883	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1255885	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1255887	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1255890	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1255891	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1255892	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1255896	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1255900	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1255901	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1255902	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1255903	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1255905	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1255908	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1262235	0.92[EUR][1000 genomes]
rs1262237	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1266870	0.96[EUR][1000 genomes]
rs1270526	0.96[EUR][1000 genomes]
rs1271567	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1272156	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1272714	0.91[EUR][1000 genomes]
rs1273192	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12878653	0.82[EUR][1000 genomes]
rs2184292	0.88[EUR][1000 genomes]
rs2357175	0.88[EUR][1000 genomes]
rs2357176	0.80[EUR][1000 genomes]
rs2792201	0.96[EUR][1000 genomes]
rs2884111	0.88[EUR][1000 genomes]
rs2994421	0.96[EUR][1000 genomes]
rs2994422	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35224808	0.85[EUR][1000 genomes]
rs61984073	0.87[EUR][1000 genomes]
rs7156570	0.88[EUR][1000 genomes]
rs8009321	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9323442	0.89[EUR][1000 genomes]
rs9323443	0.88[EUR][1000 genomes]
rs945027	0.96[EUR][1000 genomes]
rs945028	0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv902019	chr14:64395569-64882380	Enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	nsv456326	chr14:64420413-64754361	Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv564905	chr14:64420413-64754361	Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv902020	chr14:64434288-64506541	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64395000-64491000	Weak transcription	Psoas Muscle	Psoas
2	chr14:64417000-64466000	Weak transcription	Colon Smooth Muscle	Colon
3	chr14:64417400-64466200	Weak transcription	Right Ventricle	heart
4	chr14:64419200-64489000	Weak transcription	Small Intestine	intestine
5	chr14:64421600-64466000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr14:64433400-64465800	Weak transcription	Fetal Heart	heart
7	chr14:64435200-64471800	Weak transcription	Hela-S3	cervix
8	chr14:64439200-64465600	Weak transcription	Rectal Smooth Muscle	rectum
9	chr14:64439800-64467800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr14:64440800-64466000	Weak transcription	Primary B cells from peripheral blood	blood
11	chr14:64440800-64480400	Strong transcription	Primary T cells fromperipheralblood	blood
12	chr14:64441600-64467600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr14:64442400-64491000	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr14:64449200-64466200	Weak transcription	Spleen	Spleen
15	chr14:64450000-64465800	Weak transcription	Stomach Smooth Muscle	stomach
16	chr14:64452400-64480600	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr14:64452600-64479200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr14:64456600-64468200	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr14:64456800-64466000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr14:64457000-64470600	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr14:64457000-64474600	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr14:64457000-64480000	Strong transcription	Dnd41	blood
23	chr14:64457000-64502000	Strong transcription	Placenta	Placenta
24	chr14:64457000-64519200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr14:64457200-64465600	Strong transcription	Thymus	Thymus
26	chr14:64457200-64470600	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr14:64457200-64476000	Strong transcription	Fetal Brain Female	brain
28	chr14:64457200-64480200	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr14:64457600-64467800	Strong transcription	Duodenum Mucosa	Duodenum
30	chr14:64458200-64468000	Strong transcription	Sigmoid Colon	Sigmoid Colon
31	chr14:64458800-64490400	Weak transcription	Colonic Mucosa	Colon
32	chr14:64459000-64468400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr14:64459400-64467400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
34	chr14:64459600-64471000	Weak transcription	Esophagus	oesophagus
35	chr14:64459600-64478800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr14:64459600-64481200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr14:64460000-64481200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr14:64460000-64488000	Weak transcription	Pancreas	Pancrea
39	chr14:64460000-64513400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr14:64460600-64495000	Weak transcription	NHDF-Ad	bronchial
41	chr14:64461000-64470400	Weak transcription	Aorta	Aorta
42	chr14:64461400-64472200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr14:64461800-64472000	Strong transcription	Left Ventricle	heart
44	chr14:64462000-64468800	Strong transcription	Fetal Muscle Trunk	muscle
45	chr14:64462200-64469200	Strong transcription	Fetal Muscle Leg	muscle
46	chr14:64462200-64472400	Strong transcription	Primary T cells from cord blood	blood
47	chr14:64462200-64473000	Strong transcription	Rectal Mucosa Donor 31	rectum
48	chr14:64462400-64469000	Strong transcription	Fetal Kidney	kidney
49	chr14:64462600-64472200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr14:64462600-64472200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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