Variant report

Variant	rs57510263
Chromosome Location	chr5:16814736-16814737
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	chr5:16812869..16815029-chr5:16819964..16822225,2	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs6864209	1.00[AMR][1000 genomes]
rs73756292	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73756297	0.93[AFR][1000 genomes];1.00[AMR][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	nsv1025225	chr5:16714512-17234866	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	esv3529928	chr5:16748426-16856563	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
3	esv3529929	chr5:16748426-16856563	Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv1030550	chr5:16748966-16872084	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv1015247	chr5:16748966-17133274	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv597309	chr5:16791857-16837862	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16795200-16829800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:16797400-16817400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr5:16804400-16827200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr5:16807800-16820000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr5:16807800-16820000	Weak transcription	Esophagus	oesophagus
6	chr5:16810400-16816600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:16810400-16817400	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr5:16810400-16817400	Weak transcription	HMEC	breast
9	chr5:16810400-16819200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:16810400-16819200	Weak transcription	Fetal Kidney	kidney
11	chr5:16810400-16821400	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr5:16810600-16815200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr5:16810600-16815200	Weak transcription	Hela-S3	cervix
14	chr5:16810600-16819200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr5:16810600-16819400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr5:16810600-16819400	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr5:16810800-16817600	Weak transcription	NHEK	skin
18	chr5:16810800-16819200	Weak transcription	HSMM	muscle
19	chr5:16810800-16819200	Weak transcription	NHDF-Ad	bronchial
20	chr5:16810800-16819400	Weak transcription	Fetal Brain Male	brain
21	chr5:16811000-16815600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr5:16811400-16819200	Weak transcription	HSMMtube	muscle
23	chr5:16812200-16820000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr5:16812600-16820000	Weak transcription	Fetal Muscle Trunk	muscle
25	chr5:16812600-16829200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr5:16812800-16814800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr5:16812800-16817400	Weak transcription	Fetal Lung	lung
28	chr5:16812800-16819200	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr5:16812800-16819600	Weak transcription	Fetal Muscle Leg	muscle
30	chr5:16812800-16820000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr5:16812800-16820000	Weak transcription	Placenta	Placenta
32	chr5:16813000-16815400	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr5:16813000-16815400	Enhancers	A549	lung
34	chr5:16813200-16815600	Weak transcription	HepG2	liver
35	chr5:16813400-16815600	Weak transcription	NHLF	lung
36	chr5:16813400-16819800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr5:16813400-16820000	Weak transcription	Lung	lung
38	chr5:16813400-16820000	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr5:16813800-16815400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr5:16813800-16816200	Strong transcription	HUVEC	blood vessel
41	chr5:16813800-16828200	Weak transcription	Fetal Intestine Small	intestine
42	chr5:16814000-16815800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr5:16814000-16815800	Weak transcription	Stomach Mucosa	stomach
44	chr5:16814000-16817000	Weak transcription	Duodenum Mucosa	Duodenum
45	chr5:16814000-16819200	Weak transcription	Osteobl	bone
46	chr5:16814000-16819400	Weak transcription	Ovary	ovary
47	chr5:16814200-16815000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr5:16814200-16815400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr5:16814200-16815800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr5:16814200-16820000	Weak transcription	Gastric	stomach

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