Variant report

Variant	rs1697170
Chromosome Location	chr5:14248207-14248208
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:14247745..14252723-chr5:14254933..14257114,4	MCF-7	breast:
2	chr5:14244370..14246300-chr5:14246790..14248332,2	MCF-7	breast:
3	chr5:14235633..14238119-chr5:14245399..14248312,2	MCF-7	breast:
4	chr5:14246723..14248369-chr5:14255798..14258024,2	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs16903375	0.97[EUR][1000 genomes]
rs16903389	0.93[EUR][1000 genomes]
rs1697168	0.97[EUR][1000 genomes]
rs2463803	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs58383010	0.93[EUR][1000 genomes]
rs62344973	0.93[EUR][1000 genomes]
rs62346588	0.97[EUR][1000 genomes]
rs62346590	0.93[EUR][1000 genomes]
rs6879505	0.93[EUR][1000 genomes]
rs6887831	0.97[EUR][1000 genomes]
rs696290	0.85[EUR][1000 genomes]
rs697558	0.97[EUR][1000 genomes]
rs697559	0.97[EUR][1000 genomes]
rs7732548	0.97[EUR][1000 genomes]
rs773764	0.97[EUR][1000 genomes]
rs773765	0.97[EUR][1000 genomes]
rs773766	0.97[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	esv1825924	chr5:14147376-14270450	Flanking Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
2	nsv830209	chr5:14154989-14301758	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv948355	chr5:14160447-14395478	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv1026914	chr5:14237782-14751588	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14221800-14249600	Weak transcription	Colonic Mucosa	Colon
2	chr5:14226400-14249400	Weak transcription	Esophagus	oesophagus
3	chr5:14234600-14250200	Weak transcription	Placenta	Placenta
4	chr5:14238000-14250000	Weak transcription	HepG2	liver
5	chr5:14238000-14252400	Weak transcription	NHEK	skin
6	chr5:14238400-14249400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr5:14238400-14249600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr5:14238600-14250200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr5:14240000-14249000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr5:14240200-14248600	Weak transcription	Aorta	Aorta
11	chr5:14240800-14248800	Weak transcription	Primary B cells from peripheral blood	blood
12	chr5:14240800-14249600	Weak transcription	Fetal Lung	lung
13	chr5:14241200-14249600	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr5:14241600-14249000	Weak transcription	NHDF-Ad	bronchial
15	chr5:14242600-14250200	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr5:14243600-14250000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr5:14244200-14249600	Weak transcription	Fetal Kidney	kidney
18	chr5:14245400-14249000	Weak transcription	Brain Cingulate Gyrus	brain
19	chr5:14245800-14252400	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr5:14246000-14248600	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr5:14246000-14248600	Weak transcription	GM12878-XiMat	blood
22	chr5:14246000-14249400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr5:14246000-14249800	Weak transcription	Duodenum Mucosa	Duodenum
24	chr5:14246000-14250000	Enhancers	Muscle Satellite Cultured Cells	--
25	chr5:14246200-14249000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr5:14246800-14248400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr5:14246800-14248600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr5:14246800-14248800	Weak transcription	Stomach Smooth Muscle	stomach
29	chr5:14246800-14249400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr5:14246800-14249600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr5:14246800-14250000	Weak transcription	Thymus	Thymus
32	chr5:14247000-14248800	Weak transcription	Primary B cells from cord blood	blood
33	chr5:14247000-14248800	Weak transcription	Rectal Smooth Muscle	rectum
34	chr5:14247000-14249000	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr5:14247200-14248400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr5:14247200-14248600	Weak transcription	Brain Germinal Matrix	brain
37	chr5:14247200-14248600	Weak transcription	Ovary	ovary
38	chr5:14247200-14248800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr5:14247200-14248800	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr5:14247200-14248800	Weak transcription	Spleen	Spleen
41	chr5:14247200-14249000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr5:14247200-14249400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr5:14247200-14249400	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr5:14247200-14249400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr5:14247200-14249400	Weak transcription	Fetal Stomach	stomach
46	chr5:14247200-14249600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr5:14247200-14249800	Weak transcription	Adipose Nuclei	Adipose
48	chr5:14247200-14250000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr5:14247200-14256800	Weak transcription	Stomach Mucosa	stomach
50	chr5:14247400-14248400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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