Variant report

Variant	rs56280418
Chromosome Location	chr14:35298130-35298131
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:35289257..35291894-chr14:35296561..35298664,2	MCF-7	breast:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10129577	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10133537	1.00[ASN][1000 genomes]
rs10147109	0.81[ASN][1000 genomes]
rs11156864	0.95[AFR][1000 genomes]
rs11623145	0.82[AFR][1000 genomes]
rs1200413	0.81[AFR][1000 genomes]
rs1200415	1.00[ASN][1000 genomes]
rs17102745	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1741205	0.90[ASN][1000 genomes]
rs2275147	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28628142	0.84[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs28686888	0.90[ASN][1000 genomes]
rs28690092	0.83[AFR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28804104	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55909288	0.81[ASN][1000 genomes]
rs60293526	0.90[ASN][1000 genomes]
rs60358922	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs66496703	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66935528	0.90[ASN][1000 genomes]
rs67791098	0.86[AFR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7148005	0.95[AFR][1000 genomes]
rs7148739	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs799672	0.90[ASN][1000 genomes]
rs799676	0.90[ASN][1000 genomes]
rs8014552	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3392700	chr14:34989406-35365530	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
2	nsv1041857	chr14:35084889-35417180	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv1052162	chr14:35245349-35451187	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
4	nsv1053722	chr14:35257458-35465784	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35234200-35311600	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr14:35252200-35301000	Weak transcription	Psoas Muscle	Psoas
3	chr14:35269400-35322200	Weak transcription	Fetal Brain Female	brain
4	chr14:35269400-35341600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr14:35270400-35303400	Weak transcription	Stomach Mucosa	stomach
6	chr14:35271800-35326400	Weak transcription	Esophagus	oesophagus
7	chr14:35272400-35300200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr14:35272400-35333600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr14:35274200-35311800	Weak transcription	HSMMtube	muscle
10	chr14:35274400-35303400	Weak transcription	Left Ventricle	heart
11	chr14:35274400-35312400	Weak transcription	Gastric	stomach
12	chr14:35274800-35312400	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr14:35276200-35307200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr14:35276200-35342400	Weak transcription	Pancreas	Pancrea
15	chr14:35276400-35329600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr14:35276400-35330000	Weak transcription	Colonic Mucosa	Colon
17	chr14:35276600-35320000	Weak transcription	Fetal Muscle Leg	muscle
18	chr14:35277000-35300600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr14:35277000-35307200	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr14:35277200-35322000	Weak transcription	Fetal Intestine Large	intestine
21	chr14:35282000-35300400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr14:35282200-35300000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr14:35282600-35300400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr14:35282600-35323400	Weak transcription	Lung	lung
25	chr14:35285000-35300600	Strong transcription	Dnd41	blood
26	chr14:35285600-35299400	Strong transcription	Primary B cells from peripheral blood	blood
27	chr14:35286600-35298600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr14:35287000-35298200	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr14:35287600-35299400	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr14:35287800-35298200	Strong transcription	Primary T cells fromperipheralblood	blood
31	chr14:35288000-35298200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr14:35288400-35298200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr14:35289000-35298200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr14:35289000-35298400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr14:35290400-35300600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr14:35290600-35311800	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr14:35292200-35300600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr14:35292400-35312200	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr14:35292600-35312000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr14:35292600-35312400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr14:35292600-35322600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr14:35292600-35322800	Weak transcription	Thymus	Thymus
43	chr14:35292800-35303200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr14:35292800-35320200	Weak transcription	Fetal Stomach	stomach
45	chr14:35293800-35311800	Weak transcription	NH-A	brain
46	chr14:35294000-35298200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr14:35294200-35310200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr14:35294400-35300600	Weak transcription	Liver	Liver
49	chr14:35294400-35300800	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr14:35294400-35303400	Weak transcription	Small Intestine	intestine

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