Variant report

Variant	rs257048
Chromosome Location	chr5:16694367-16694368
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	chr5:16693261..16695591-chr5:16699683..16702377,2	MCF-7	breast:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11955561	1.00[EUR][1000 genomes]
rs149110	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs256928	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs256937	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs26740	1.00[CEU][hapmap]
rs28526319	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869660	chr5:16651289-16766428	Genic enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv4737	chr5:16681166-16707357	Active TSS Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:16661800-16700000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:16663000-16712400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:16663600-16695400	Strong transcription	Fetal Intestine Small	intestine
4	chr5:16663800-16694400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr5:16663800-16698000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr5:16663800-16702400	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr5:16663800-16713400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr5:16664000-16701000	Strong transcription	Fetal Intestine Large	intestine
9	chr5:16664000-16702000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
10	chr5:16664000-16702200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr5:16664000-16702400	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr5:16664200-16702200	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr5:16665600-16699200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr5:16667800-16701000	Weak transcription	Right Ventricle	heart
15	chr5:16673800-16713400	Weak transcription	Psoas Muscle	Psoas
16	chr5:16675800-16713600	Weak transcription	Left Ventricle	heart
17	chr5:16677800-16706000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr5:16678600-16695000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr5:16679600-16701000	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr5:16680200-16695000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr5:16681000-16699200	Weak transcription	Primary neutrophils fromperipheralblood	blood
22	chr5:16681400-16701000	Weak transcription	Colonic Mucosa	Colon
23	chr5:16681600-16713200	Weak transcription	Small Intestine	intestine
24	chr5:16682400-16699200	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr5:16682400-16736000	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr5:16683200-16701000	Weak transcription	Rectal Smooth Muscle	rectum
27	chr5:16683800-16707200	Weak transcription	Liver	Liver
28	chr5:16684000-16698600	Weak transcription	Aorta	Aorta
29	chr5:16684200-16700800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr5:16684600-16701200	Weak transcription	Stomach Smooth Muscle	stomach
31	chr5:16686000-16708400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr5:16688000-16711600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr5:16688400-16695800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr5:16688400-16711400	Strong transcription	Fetal Lung	lung
35	chr5:16688800-16695200	Strong transcription	NHEK	skin
36	chr5:16689800-16710000	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr5:16690200-16698600	Weak transcription	HSMM	muscle
38	chr5:16690200-16699200	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr5:16690200-16713200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr5:16690400-16707400	Weak transcription	Hela-S3	cervix
41	chr5:16691000-16698000	Weak transcription	Osteobl	bone
42	chr5:16691800-16695000	Strong transcription	HUVEC	blood vessel
43	chr5:16691800-16699200	Strong transcription	Duodenum Mucosa	Duodenum
44	chr5:16692000-16695600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr5:16692000-16696200	Strong transcription	HepG2	liver
46	chr5:16692000-16702000	Strong transcription	H1 Cell Line	embryonic stem cell
47	chr5:16692200-16694400	Strong transcription	Fetal Muscle Trunk	muscle
48	chr5:16692200-16695000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr5:16692600-16695000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr5:16692600-16695400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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