Variant report

Variant	rs72744279
Chromosome Location	chr5:14252444-14252445
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:14250457..14253122-chr5:14263365..14265859,2	K562	blood:
2	chr5:14247745..14252723-chr5:14254933..14257114,4	MCF-7	breast:
3	chr5:14151849..14153831-chr5:14250549..14252735,2	MCF-7	breast:
4	chr5:14240499..14242418-chr5:14249798..14252534,2	K562	blood:
5	chr5:14141623..14144642-chr5:14252312..14255113,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000038382	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs12659261	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs154150	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs154153	0.81[EUR][1000 genomes]
rs154154	0.81[EUR][1000 genomes]
rs154155	0.81[EUR][1000 genomes]
rs164862	0.82[ASN][1000 genomes]
rs165083	0.81[EUR][1000 genomes]
rs165094	0.80[ASN][1000 genomes]
rs165096	0.84[ASN][1000 genomes]
rs16903326	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16903338	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs30603	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs30604	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs30605	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs30618	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs354303	0.83[ASN][1000 genomes]
rs42204	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs42405	0.81[EUR][1000 genomes]
rs56226439	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56334634	0.87[ASN][1000 genomes]
rs58221971	0.85[ASN][1000 genomes]
rs6554849	0.85[ASN][1000 genomes]
rs6554850	0.87[ASN][1000 genomes]
rs6554851	0.87[ASN][1000 genomes]
rs67084079	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7380307	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7700787	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[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:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:14247200-14256800	Weak transcription	Stomach Mucosa	stomach
2	chr5:14247400-14254600	Weak transcription	Hela-S3	cervix
3	chr5:14247400-14257000	Weak transcription	Gastric	stomach
4	chr5:14248400-14252600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr5:14248400-14253800	Enhancers	Fetal Muscle Trunk	muscle
6	chr5:14248400-14255400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr5:14248600-14255000	Enhancers	Psoas Muscle	Psoas
8	chr5:14248800-14253000	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr5:14248800-14253000	Enhancers	Primary B cells from peripheral blood	blood
10	chr5:14248800-14253800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr5:14248800-14254000	Enhancers	Fetal Thymus	thymus
12	chr5:14249400-14252600	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr5:14249400-14253200	Enhancers	H1 Cell Line	embryonic stem cell
14	chr5:14249400-14253200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:14249400-14253200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr5:14249400-14254800	Enhancers	Lung	lung
17	chr5:14249600-14256400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr5:14250000-14254000	Enhancers	Thymus	Thymus
19	chr5:14250200-14253000	Enhancers	Pancreas	Pancrea
20	chr5:14250600-14252600	Enhancers	Fetal Muscle Leg	muscle
21	chr5:14250600-14252800	Enhancers	Colon Smooth Muscle	Colon
22	chr5:14250600-14253000	Enhancers	Brain Substantia Nigra	brain
23	chr5:14250600-14253000	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr5:14250600-14255200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr5:14250800-14252600	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr5:14250800-14252600	Enhancers	Rectal Smooth Muscle	rectum
27	chr5:14250800-14252800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr5:14250800-14253200	Enhancers	Adipose Nuclei	Adipose
29	chr5:14250800-14253200	Enhancers	Brain Anterior Caudate	brain
30	chr5:14250800-14253800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
31	chr5:14250800-14253800	Weak transcription	K562	blood
32	chr5:14250800-14255200	Weak transcription	NHDF-Ad	bronchial
33	chr5:14250800-14256200	Weak transcription	Small Intestine	intestine
34	chr5:14250800-14256400	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr5:14250800-14256800	Weak transcription	Ovary	ovary
36	chr5:14250800-14257000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr5:14251000-14252600	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr5:14251200-14252600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr5:14251200-14252800	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr5:14251200-14253200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr5:14251200-14256200	Weak transcription	HepG2	liver
42	chr5:14251400-14252600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr5:14251400-14252600	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr5:14251400-14252800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr5:14251400-14253000	Enhancers	Right Atrium	heart
46	chr5:14251400-14253800	Weak transcription	HUVEC	blood vessel
47	chr5:14251400-14254200	Weak transcription	Fetal Intestine Small	intestine
48	chr5:14251400-14255000	Enhancers	Left Ventricle	heart
49	chr5:14251400-14255200	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr5:14251400-14257200	Weak transcription	Duodenum Mucosa	Duodenum

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