Variant report

Variant	rs74058550
Chromosome Location	chr14:66130106-66130107
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:74)

rs_ID	r²[population]
rs12433688	0.94[AFR][1000 genomes]
rs17102688	0.94[AFR][1000 genomes]
rs17102839	0.94[AFR][1000 genomes]
rs55674739	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55698845	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs55723633	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs55954698	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs55967642	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56258162	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56350757	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56395501	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56401246	0.88[AFR][1000 genomes]
rs56821971	0.94[AFR][1000 genomes]
rs57228058	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57283810	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57528434	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58087042	0.94[AFR][1000 genomes]
rs58160832	0.94[AFR][1000 genomes]
rs58873346	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60009307	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60225754	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60393585	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60470427	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60789318	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61016861	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61417186	0.94[AFR][1000 genomes]
rs74056768	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74056773	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74056775	0.94[AFR][1000 genomes]
rs74056779	1.00[EUR][1000 genomes]
rs74056782	0.94[AFR][1000 genomes]
rs74056784	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74056787	0.94[AFR][1000 genomes]
rs74056794	0.94[AFR][1000 genomes]
rs74056795	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74056796	1.00[AFR][1000 genomes]
rs74056798	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74056804	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74056807	0.94[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74056811	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74056813	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74056815	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74056816	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74056826	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74056829	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74056849	1.00[EUR][1000 genomes]
rs74056852	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74056853	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74058503	0.89[AFR][1000 genomes]
rs74058507	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74058513	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74058518	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74058519	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74058523	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74058524	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74058525	0.94[AFR][1000 genomes]
rs74058528	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74058529	0.89[AFR][1000 genomes]
rs74058536	0.88[AFR][1000 genomes]
rs74058539	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74058541	0.94[AFR][1000 genomes]
rs74058545	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74058546	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74058547	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74058548	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74058549	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74058551	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74058553	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74058554	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74058556	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74058557	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74058562	0.94[AFR][1000 genomes]
rs74058563	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74058564	1.00[AFR][1000 genomes];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	nsv1036403	chr14:65724229-66208114	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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
7	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
8	nsv902026	chr14:66061020-66171541	Weak transcription Enhancers Strong transcription Genic 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:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:66081400-66142200	Weak transcription	Thymus	Thymus
2	chr14:66090800-66145000	Weak transcription	Small Intestine	intestine
3	chr14:66092800-66141000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr14:66099000-66135200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr14:66099200-66135800	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr14:66099200-66144000	Weak transcription	Duodenum Mucosa	Duodenum
7	chr14:66100600-66160000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr14:66105000-66143400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr14:66105000-66149600	Weak transcription	Fetal Thymus	thymus
10	chr14:66105000-66157400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr14:66105200-66135600	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr14:66105200-66136000	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr14:66113400-66141400	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr14:66114000-66135600	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr14:66116200-66135000	Weak transcription	Dnd41	blood
16	chr14:66120200-66135000	Weak transcription	Primary B cells from cord blood	blood
17	chr14:66123200-66133800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr14:66125200-66130200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr14:66125200-66130400	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr14:66125400-66130400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr14:66125600-66135800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr14:66125600-66138200	Weak transcription	NHLF	lung
23	chr14:66125600-66146600	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr14:66125600-66157400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr14:66126400-66130600	Enhancers	Stomach Mucosa	stomach
26	chr14:66126400-66146800	Weak transcription	Brain Cingulate Gyrus	brain
27	chr14:66126800-66135400	Weak transcription	GM12878-XiMat	blood
28	chr14:66126800-66153400	Weak transcription	Aorta	Aorta
29	chr14:66128000-66130800	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr14:66128200-66138600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr14:66129200-66131000	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr14:66129400-66143200	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr14:66129600-66130200	Weak transcription	Brain Angular Gyrus	brain
34	chr14:66129600-66132200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr14:66130000-66130400	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr14:66130000-66131000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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