Variant report

Variant	rs55857682
Chromosome Location	chr14:70485181-70485182
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:70464914..70467730-chr14:70484220..70485964,2	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11621110	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11628857	0.81[EUR][1000 genomes]
rs11847923	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1885482	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34797412	1.00[ASN][1000 genomes]
rs55661016	0.81[ASN][1000 genomes]
rs61977405	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
2	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
3	nsv832824	chr14:70320639-70511401	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70472400-70485400	Strong transcription	Hela-S3	cervix
2	chr14:70475800-70487200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr14:70476000-70500000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr14:70476200-70490600	Weak transcription	Fetal Brain Male	brain
5	chr14:70476200-70499000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:70481000-70485200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr14:70481600-70488200	Weak transcription	Brain Germinal Matrix	brain
8	chr14:70482000-70485200	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr14:70482000-70485400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr14:70482200-70488200	Weak transcription	HepG2	liver
11	chr14:70483200-70485600	Strong transcription	Fetal Brain Female	brain
12	chr14:70483600-70488800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr14:70484000-70485400	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr14:70484000-70486000	Genic enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr14:70484200-70485800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr14:70484200-70485800	Genic enhancers	Cortex derived primary cultured neurospheres	brain
17	chr14:70484200-70486200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr14:70484200-70486200	Enhancers	NHEK	skin
19	chr14:70484400-70485400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr14:70484400-70486400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr14:70484400-70486400	Enhancers	Spleen	Spleen
22	chr14:70484400-70486400	Enhancers	HMEC	breast
23	chr14:70484600-70485200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr14:70484600-70485200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr14:70484600-70485400	Enhancers	Duodenum Mucosa	Duodenum
26	chr14:70484600-70485600	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr14:70484600-70485800	Genic enhancers	Liver	Liver
28	chr14:70484600-70486000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr14:70484600-70486000	Enhancers	Fetal Stomach	stomach
30	chr14:70484600-70486400	Enhancers	Brain Angular Gyrus	brain
31	chr14:70484600-70486400	Enhancers	GM12878-XiMat	blood
32	chr14:70484800-70485400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr14:70484800-70485400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr14:70484800-70485400	Enhancers	Brain Anterior Caudate	brain
35	chr14:70484800-70485400	Enhancers	Brain Hippocampus Middle	brain
36	chr14:70484800-70485400	Enhancers	Colonic Mucosa	Colon
37	chr14:70484800-70485400	Enhancers	Gastric	stomach
38	chr14:70484800-70485400	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr14:70484800-70485600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr14:70484800-70485600	Enhancers	Rectal Mucosa Donor 29	rectum
41	chr14:70484800-70486000	Enhancers	Esophagus	oesophagus
42	chr14:70484800-70486000	Enhancers	Fetal Muscle Leg	muscle
43	chr14:70484800-70486000	Enhancers	Pancreas	Pancrea
44	chr14:70484800-70486000	Enhancers	HSMMtube	muscle
45	chr14:70484800-70486600	Enhancers	Brain Substantia Nigra	brain
46	chr14:70484800-70488400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr14:70485000-70485200	Enhancers	Monocytes-CD14+_RO01746	blood
48	chr14:70485000-70485600	Enhancers	Primary hematopoietic stem cells	blood
49	chr14:70485000-70493200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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