Variant report

Variant	rs897724
Chromosome Location	chr5:14250376-14250377
allele	C/T
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	chr5:14234443..14236446-chr5:14248979..14250681,2	MCF-7	breast:
3	chr5:14245711..14247721-chr5:14250284..14252270,2	K562	blood:
4	chr5:14240499..14242418-chr5:14249798..14252534,2	K562	blood:
5	chr5:14242667..14245241-chr5:14248940..14251910,2	K562	blood:
6	chr5:14245041..14247685-chr5:14248600..14251255,2	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13175673	1.00[ASN][1000 genomes]
rs164861	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17302408	1.00[ASN][1000 genomes]
rs187125	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2434605	1.00[ASN][1000 genomes]
rs245577	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2591277	0.91[EUR][1000 genomes]
rs2607077	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2607078	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2697663	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs30616	1.00[ASN][1000 genomes]
rs30617	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs30619	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs30620	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs354305	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs354308	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs39856	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs42485	1.00[ASN][1000 genomes]
rs706271	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs773701	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs773702	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs773763	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs799025	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs897726	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][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:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14238000-14252400	Weak transcription	NHEK	skin
2	chr5:14245800-14252400	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr5:14247200-14256800	Weak transcription	Stomach Mucosa	stomach
4	chr5:14247400-14254600	Weak transcription	Hela-S3	cervix
5	chr5:14247400-14257000	Weak transcription	Gastric	stomach
6	chr5:14248400-14250400	Enhancers	Osteobl	bone
7	chr5:14248400-14252000	Genic enhancers	HSMM	muscle
8	chr5:14248400-14252600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr5:14248400-14253800	Enhancers	Fetal Muscle Trunk	muscle
10	chr5:14248400-14255400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr5:14248600-14250400	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr5:14248600-14250400	Enhancers	Ovary	ovary
13	chr5:14248600-14250400	Enhancers	NH-A	brain
14	chr5:14248600-14250600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr5:14248600-14250800	Enhancers	Right Ventricle	heart
16	chr5:14248600-14251000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr5:14248600-14251000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr5:14248600-14251000	Enhancers	Left Ventricle	heart
19	chr5:14248600-14251000	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr5:14248600-14251200	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr5:14248600-14251800	Enhancers	HSMMtube	muscle
22	chr5:14248600-14255000	Enhancers	Psoas Muscle	Psoas
23	chr5:14248800-14250600	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr5:14248800-14250600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr5:14248800-14250600	Enhancers	A549	lung
26	chr5:14248800-14251000	Enhancers	Right Atrium	heart
27	chr5:14248800-14251800	Enhancers	Spleen	Spleen
28	chr5:14248800-14253000	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr5:14248800-14253000	Enhancers	Primary B cells from peripheral blood	blood
30	chr5:14248800-14253800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr5:14248800-14254000	Enhancers	Fetal Thymus	thymus
32	chr5:14249000-14250400	Enhancers	NHDF-Ad	bronchial
33	chr5:14249000-14250800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr5:14249000-14250800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr5:14249000-14251000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr5:14249000-14251400	Enhancers	HUVEC	blood vessel
37	chr5:14249000-14251800	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr5:14249200-14250600	Enhancers	Fetal Heart	heart
39	chr5:14249200-14252000	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr5:14249400-14251000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr5:14249400-14252000	Enhancers	Fetal Stomach	stomach
42	chr5:14249400-14252400	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr5:14249400-14252600	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr5:14249400-14253200	Enhancers	H1 Cell Line	embryonic stem cell
45	chr5:14249400-14253200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr5:14249400-14253200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr5:14249400-14254800	Enhancers	Lung	lung
48	chr5:14249600-14250400	Weak transcription	Primary hematopoietic stem cells	blood
49	chr5:14249600-14250600	Flanking Active TSS	Colon Smooth Muscle	Colon
50	chr5:14249600-14250600	Enhancers	Fetal Lung	lung

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