Variant report

Variant	rs57284652
Chromosome Location	chr14:71258441-71258442
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:71254174..71260054-chr14:71263244..71266960,6	MCF-7	breast:
2	chr14:71253814..71258557-chr14:71260999..71264904,5	MCF-7	breast:
3	chr14:71237542..71240325-chr14:71258119..71261097,3	MCF-7	breast:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10083428	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10483834	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11847356	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11847373	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12590049	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1548584	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17108554	0.86[EUR][1000 genomes]
rs17176985	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17177014	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17177097	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17766512	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17766551	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17766661	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1859460	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1859461	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2023954	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3742847	0.90[EUR][1000 genomes]
rs4902857	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902858	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902859	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57843652	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59858521	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60533515	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61988426	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61988427	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61990472	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61990476	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61990481	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61990518	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61990519	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61990520	0.86[EUR][1000 genomes]
rs61990521	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61990523	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61990526	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61990527	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61990550	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6573982	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7141204	0.80[EUR][1000 genomes]
rs7150427	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7151024	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs757570	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8006715	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8018972	0.86[EUR][1000 genomes]
rs8019053	0.86[EUR][1000 genomes]
rs8022621	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][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	nsv1039460	chr14:71176898-71371125	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv1041980	chr14:71196358-71767339	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv542125	chr14:71196358-71767339	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv1035416	chr14:71212882-71623271	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv542126	chr14:71212882-71623271	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
6	nsv1049741	chr14:71233043-71462509	Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:71220800-71266400	Weak transcription	Fetal Intestine Large	intestine
2	chr14:71222600-71274600	Weak transcription	Hela-S3	cervix
3	chr14:71223000-71266600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:71238600-71266600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr14:71239000-71269600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr14:71242400-71266600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr14:71242600-71266200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr14:71246800-71266800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr14:71247400-71266600	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr14:71247800-71274600	Weak transcription	Stomach Mucosa	stomach
11	chr14:71248200-71271200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr14:71249000-71266400	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr14:71249400-71266200	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr14:71249400-71266600	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr14:71249400-71266600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr14:71249400-71274400	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr14:71249400-71274400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr14:71249400-71274600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr14:71249600-71258600	Weak transcription	GM12878-XiMat	blood
20	chr14:71249600-71274600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr14:71249800-71274600	Weak transcription	Primary hematopoietic stem cells	blood
22	chr14:71250400-71266600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr14:71252000-71262800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr14:71252600-71268400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr14:71255800-71260600	Weak transcription	Fetal Stomach	stomach
26	chr14:71256200-71259600	Strong transcription	Primary B cells from peripheral blood	blood
27	chr14:71256400-71259600	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr14:71256400-71260400	Weak transcription	Ovary	ovary
29	chr14:71256400-71260600	Weak transcription	Psoas Muscle	Psoas
30	chr14:71256400-71260600	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr14:71256600-71269600	Weak transcription	Brain Hippocampus Middle	brain
32	chr14:71256800-71260000	Strong transcription	Esophagus	oesophagus
33	chr14:71257000-71259400	Weak transcription	Lung	lung
34	chr14:71257000-71260600	Weak transcription	Fetal Kidney	kidney
35	chr14:71257200-71274600	Weak transcription	Brain Anterior Caudate	brain
36	chr14:71257200-71274600	Weak transcription	Spleen	Spleen
37	chr14:71257600-71261200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr14:71257600-71261200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr14:71257600-71261400	Strong transcription	NHEK	skin
40	chr14:71257800-71258800	Strong transcription	Duodenum Mucosa	Duodenum
41	chr14:71257800-71258800	Strong transcription	Placenta	Placenta
42	chr14:71257800-71261200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
43	chr14:71257800-71274800	Weak transcription	Colonic Mucosa	Colon
44	chr14:71258000-71258600	Strong transcription	Brain Germinal Matrix	brain
45	chr14:71258000-71258800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr14:71258000-71259000	Strong transcription	Pancreas	Pancrea
47	chr14:71258000-71259600	Strong transcription	A549	lung
48	chr14:71258000-71260000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr14:71258000-71260000	Strong transcription	Dnd41	blood
50	chr14:71258000-71260200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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