Variant report

Variant	rs74056852
Chromosome Location	chr14:66258915-66258916
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs55674739	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56258162	1.00[EUR][1000 genomes]
rs56350757	1.00[EUR][1000 genomes]
rs56395501	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57228058	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57528434	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58873346	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60009307	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60225754	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60789318	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61016861	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74056804	1.00[EUR][1000 genomes]
rs74056807	1.00[EUR][1000 genomes]
rs74056811	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74056813	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74056815	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74056816	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74056826	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74056829	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74056844	0.95[AFR][1000 genomes]
rs74056845	0.95[AFR][1000 genomes]
rs74056849	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74056851	0.95[AFR][1000 genomes]
rs74056853	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74058523	1.00[EUR][1000 genomes]
rs74058524	1.00[EUR][1000 genomes]
rs74058528	1.00[EUR][1000 genomes]
rs74058539	1.00[EUR][1000 genomes]
rs74058545	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74058546	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74058547	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74058548	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74058549	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74058550	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74058551	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74058553	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74058554	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74058556	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74058557	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74058563	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74058564	1.00[AMR][1000 genomes];1.00[EUR][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	chr14:66257600-66259000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr14:66258000-66259400	Enhancers	HUES6 Cell Line	embryonic stem cell
6	chr14:66258200-66259000	Enhancers	Right Atrium	heart
7	chr14:66258200-66259000	Enhancers	Hela-S3	cervix
8	chr14:66258200-66259200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr14:66258200-66259400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr14:66258200-66259400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr14:66258200-66259400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr14:66258200-66259600	Enhancers	HMEC	breast
13	chr14:66258200-66259600	Enhancers	HSMM	muscle
14	chr14:66258200-66259600	Enhancers	Osteobl	bone
15	chr14:66258400-66259000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr14:66258400-66259000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
17	chr14:66258400-66259200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr14:66258400-66259200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr14:66258400-66259200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr14:66258400-66259200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr14:66258400-66259400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr14:66258400-66259400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr14:66258400-66259400	Enhancers	Placenta Amnion	Placenta Amnion
24	chr14:66258400-66259400	Enhancers	NHDF-Ad	bronchial
25	chr14:66258400-66259600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr14:66258600-66259400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr14:66258600-66259400	Enhancers	Muscle Satellite Cultured Cells	--
28	chr14:66258600-66259400	Flanking Active TSS	NH-A	brain
29	chr14:66258600-66259400	Enhancers	NHEK	skin
30	chr14:66258600-66259800	Weak transcription	Spleen	Spleen
31	chr14:66258600-66260200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr14:66258600-66265600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr14:66258800-66259000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr14:66258800-66259200	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr14:66258800-66259200	Enhancers	HSMMtube	muscle
36	chr14:66258800-66259400	Enhancers	NHLF	lung
37	chr14:66258800-66268800	Weak transcription	H9 Cell Line	embryonic stem cell

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