Variant report

Variant	rs257049
Chromosome Location	chr5:16695416-16695417
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: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11738070	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11740825	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11741866	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs154287	0.88[EUR][1000 genomes]
rs1560087	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1560088	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1863996	0.86[EUR][1000 genomes]
rs256929	0.84[EUR][1000 genomes]
rs256930	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs256935	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs257047	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs257050	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs257051	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs257198	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs31579	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4701670	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4702166	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58619409	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs59574363	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6860226	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6881621	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7717840	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7733988	0.89[EUR][1000 genomes]
rs890911	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][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	chr5:16663800-16698000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:16663800-16702400	Strong transcription	HUES6 Cell Line	embryonic stem cell
5	chr5:16663800-16713400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr5:16664000-16701000	Strong transcription	Fetal Intestine Large	intestine
7	chr5:16664000-16702000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
8	chr5:16664000-16702200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr5:16664000-16702400	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr5:16664200-16702200	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr5:16665600-16699200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr5:16667800-16701000	Weak transcription	Right Ventricle	heart
13	chr5:16673800-16713400	Weak transcription	Psoas Muscle	Psoas
14	chr5:16675800-16713600	Weak transcription	Left Ventricle	heart
15	chr5:16677800-16706000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr5:16679600-16701000	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr5:16681000-16699200	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr5:16681400-16701000	Weak transcription	Colonic Mucosa	Colon
19	chr5:16681600-16713200	Weak transcription	Small Intestine	intestine
20	chr5:16682400-16699200	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr5:16682400-16736000	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr5:16683200-16701000	Weak transcription	Rectal Smooth Muscle	rectum
23	chr5:16683800-16707200	Weak transcription	Liver	Liver
24	chr5:16684000-16698600	Weak transcription	Aorta	Aorta
25	chr5:16684200-16700800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr5:16684600-16701200	Weak transcription	Stomach Smooth Muscle	stomach
27	chr5:16686000-16708400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr5:16688000-16711600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr5:16688400-16695800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr5:16688400-16711400	Strong transcription	Fetal Lung	lung
31	chr5:16689800-16710000	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr5:16690200-16698600	Weak transcription	HSMM	muscle
33	chr5:16690200-16699200	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr5:16690200-16713200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr5:16690400-16707400	Weak transcription	Hela-S3	cervix
36	chr5:16691000-16698000	Weak transcription	Osteobl	bone
37	chr5:16691800-16699200	Strong transcription	Duodenum Mucosa	Duodenum
38	chr5:16692000-16695600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr5:16692000-16696200	Strong transcription	HepG2	liver
40	chr5:16692000-16702000	Strong transcription	H1 Cell Line	embryonic stem cell
41	chr5:16692600-16698000	Strong transcription	NH-A	brain
42	chr5:16692800-16695800	Strong transcription	Rectal Mucosa Donor 31	rectum
43	chr5:16692800-16696200	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr5:16693000-16695600	Strong transcription	iPS-15b Cell Line	embryonic stem cell
45	chr5:16693000-16695600	Strong transcription	HSMMtube	muscle
46	chr5:16693200-16695600	Strong transcription	Fetal Stomach	stomach
47	chr5:16693200-16696200	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr5:16694000-16695600	Strong transcription	HMEC	breast
49	chr5:16694200-16699200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr5:16694600-16698200	Weak transcription	Brain Germinal Matrix	brain

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