Variant report

Variant	rs28616692
Chromosome Location	chr14:66258683-66258684
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs1075566	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11158611	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11625362	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11625882	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11627578	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11627605	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11628840	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11848443	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11848444	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11848463	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12050182	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12050231	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12887673	0.84[ASN][1000 genomes]
rs12887957	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12894034	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12894466	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2411404	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2411405	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28459012	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4073415	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4073416	0.80[EUR][1000 genomes]
rs4078408	0.84[ASN][1000 genomes]
rs4439682	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4902415	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4902416	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56720460	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56922569	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs59636756	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61988977	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61988978	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6573624	0.84[ASN][1000 genomes]
rs6573626	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7142018	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7142165	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7142219	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7149301	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7151846	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7157449	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs730807	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs743084	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs761831	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8007846	0.95[ASN][1000 genomes]
rs8010876	0.81[ASN][1000 genomes]
rs8018379	0.96[ASN][1000 genomes]
rs8022764	0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs9323465	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043943	chr14:65782466-66698411	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
2	nsv542120	chr14:65782466-66698411	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
3	nsv1039168	chr14:65811750-66308343	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
4	esv3366524	chr14:65924360-66423862	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
5	nsv1045000	chr14:66010886-66372518	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1042671	chr14:66010886-66399888	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv817409	chr14:66220075-66990168	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
8	nsv1052389	chr14:66255781-66321562	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:66256400-66259200	Enhancers	H1 Cell Line	embryonic stem cell
2	chr14:66256600-66260200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr14:66257200-66259400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
4	chr14:66257600-66258800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr14:66257600-66259000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr14:66258000-66259400	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr14:66258200-66258800	Genic enhancers	H9 Cell Line	embryonic stem cell
8	chr14:66258200-66258800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr14:66258200-66259000	Enhancers	Right Atrium	heart
10	chr14:66258200-66259000	Enhancers	Hela-S3	cervix
11	chr14:66258200-66259200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr14:66258200-66259400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr14:66258200-66259400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr14:66258200-66259400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr14:66258200-66259600	Enhancers	HMEC	breast
16	chr14:66258200-66259600	Enhancers	HSMM	muscle
17	chr14:66258200-66259600	Enhancers	Osteobl	bone
18	chr14:66258400-66258800	Enhancers	Fetal Lung	lung
19	chr14:66258400-66258800	Enhancers	Fetal Stomach	stomach
20	chr14:66258400-66259000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr14:66258400-66259000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
22	chr14:66258400-66259200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr14:66258400-66259200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr14:66258400-66259200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr14:66258400-66259200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr14:66258400-66259400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr14:66258400-66259400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr14:66258400-66259400	Enhancers	Placenta Amnion	Placenta Amnion
29	chr14:66258400-66259400	Enhancers	NHDF-Ad	bronchial
30	chr14:66258400-66259600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr14:66258600-66259400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr14:66258600-66259400	Enhancers	Muscle Satellite Cultured Cells	--
33	chr14:66258600-66259400	Flanking Active TSS	NH-A	brain
34	chr14:66258600-66259400	Enhancers	NHEK	skin
35	chr14:66258600-66259800	Weak transcription	Spleen	Spleen
36	chr14:66258600-66260200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr14:66258600-66265600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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