Variant report

Variant	rs74058519
Chromosome Location	chr14:66034366-66034367
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:66028536..66030674-chr14:66033241..66035745,2	K562	blood:
2	chr14:66025175..66028940-chr14:66031643..66034367,3	MCF-7	breast:
3	chr14:66032707..66034682-chr14:66036601..66038473,2	MCF-7	breast:
4	chr14:66033929..66036074-chr14:66039041..66041342,2	MCF-7	breast:

Extended variants
information (count: 80 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs12433688	0.84[AFR][1000 genomes]
rs17102688	0.84[AFR][1000 genomes]
rs17102839	0.84[AFR][1000 genomes]
rs55674739	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs55698845	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55723633	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55954698	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55967642	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56258162	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56350757	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56821971	0.84[AFR][1000 genomes]
rs57228058	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57283810	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58087042	0.84[AFR][1000 genomes]
rs58160832	0.84[AFR][1000 genomes]
rs58873346	1.00[EUR][1000 genomes]
rs59328088	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60009307	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs60225754	1.00[EUR][1000 genomes]
rs60393585	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60470427	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61016861	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61417186	0.84[AFR][1000 genomes]
rs74056763	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74056766	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74056768	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74056773	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74056775	0.84[AFR][1000 genomes]
rs74056779	1.00[EUR][1000 genomes]
rs74056782	0.84[AFR][1000 genomes]
rs74056784	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74056787	0.84[AFR][1000 genomes]
rs74056794	0.84[AFR][1000 genomes]
rs74056795	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74056796	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74056798	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74056804	1.00[EUR][1000 genomes]
rs74056807	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74056811	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74056813	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74056815	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74056816	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74056826	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74056829	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74058503	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74058507	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74058513	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74058518	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74058523	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74058524	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74058525	0.84[AFR][1000 genomes]
rs74058528	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74058529	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74058539	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74058541	0.84[AFR][1000 genomes]
rs74058545	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74058546	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74058547	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74058548	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74058549	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74058550	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74058551	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74058553	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74058554	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74058556	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74058557	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74058562	0.84[AFR][1000 genomes]
rs74058563	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74058564	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv456327	chr14:65955517-66052901	Strong transcription Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv564951	chr14:65955517-66052901	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv832819	chr14:65957949-66106019	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	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
10	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
11	nsv974468	chr14:66027622-66038354	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65995400-66061000	Weak transcription	Gastric	stomach
2	chr14:66003800-66041200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr14:66016000-66041400	Weak transcription	Ovary	ovary
4	chr14:66021400-66046400	Weak transcription	Thymus	Thymus
5	chr14:66021800-66043000	Weak transcription	Fetal Intestine Small	intestine
6	chr14:66022400-66042200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr14:66022400-66047800	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr14:66022400-66052400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr14:66022800-66037000	Weak transcription	Stomach Mucosa	stomach
10	chr14:66023200-66037400	Weak transcription	Brain Hippocampus Middle	brain
11	chr14:66023200-66040200	Weak transcription	Lung	lung
12	chr14:66023200-66052000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr14:66023200-66054400	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr14:66023600-66038200	Weak transcription	Brain Substantia Nigra	brain
15	chr14:66025400-66040400	Weak transcription	Fetal Lung	lung
16	chr14:66026200-66040600	Weak transcription	Brain Angular Gyrus	brain
17	chr14:66026400-66036600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr14:66026800-66042200	Weak transcription	Placenta	Placenta
19	chr14:66026800-66048800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr14:66027600-66036600	Weak transcription	Brain Anterior Caudate	brain
21	chr14:66027600-66037200	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr14:66027600-66044200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr14:66027800-66041800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr14:66028000-66039600	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr14:66028600-66042400	Weak transcription	NH-A	brain
26	chr14:66028800-66039200	Weak transcription	Fetal Thymus	thymus
27	chr14:66028800-66040800	Weak transcription	Left Ventricle	heart
28	chr14:66028800-66042600	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr14:66028800-66044200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr14:66029000-66039800	Weak transcription	Fetal Intestine Large	intestine
31	chr14:66029800-66039600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr14:66030200-66040200	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr14:66030200-66040800	Weak transcription	Duodenum Mucosa	Duodenum
34	chr14:66032000-66037000	Weak transcription	Primary B cells from peripheral blood	blood
35	chr14:66032000-66037200	Weak transcription	Primary T cells from cord blood	blood
36	chr14:66032000-66038000	Weak transcription	Brain Cingulate Gyrus	brain
37	chr14:66032000-66041600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr14:66032000-66042400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr14:66032000-66060200	Weak transcription	Primary hematopoietic stem cells	blood
40	chr14:66032200-66039200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr14:66032600-66060800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr14:66032800-66034400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr14:66032800-66034600	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr14:66033000-66034400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr14:66033000-66035800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr14:66033200-66035200	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr14:66033200-66036600	Weak transcription	Dnd41	blood
48	chr14:66033200-66053600	Weak transcription	Small Intestine	intestine
49	chr14:66033400-66036800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr14:66033400-66038200	Weak transcription	Sigmoid Colon	Sigmoid Colon

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