Variant report

Variant	rs67084079
Chromosome Location	chr5:14253801-14253802
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	chr5:14141623..14144642-chr5:14252312..14255113,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000038382	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12659261	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs154150	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs164862	0.82[ASN][1000 genomes]
rs165094	0.80[ASN][1000 genomes]
rs165096	0.84[ASN][1000 genomes]
rs16903326	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16903338	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs30603	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs30604	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs30605	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs30618	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs354303	0.83[ASN][1000 genomes]
rs56226439	0.83[AMR][1000 genomes];0.91[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]
rs72744279	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7380307	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7700787	0.85[AMR][1000 genomes];0.89[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:84 , 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	chr5:14248400-14255400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr5:14248600-14255000	Enhancers	Psoas Muscle	Psoas
6	chr5:14248800-14254000	Enhancers	Fetal Thymus	thymus
7	chr5:14249400-14254800	Enhancers	Lung	lung
8	chr5:14249600-14256400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr5:14250000-14254000	Enhancers	Thymus	Thymus
10	chr5:14250600-14255200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr5:14250800-14255200	Weak transcription	NHDF-Ad	bronchial
12	chr5:14250800-14256200	Weak transcription	Small Intestine	intestine
13	chr5:14250800-14256400	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr5:14250800-14256800	Weak transcription	Ovary	ovary
15	chr5:14250800-14257000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr5:14251200-14256200	Weak transcription	HepG2	liver
17	chr5:14251400-14254200	Weak transcription	Fetal Intestine Small	intestine
18	chr5:14251400-14255000	Enhancers	Left Ventricle	heart
19	chr5:14251400-14255200	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr5:14251400-14257200	Weak transcription	Duodenum Mucosa	Duodenum
21	chr5:14251600-14255200	Weak transcription	Osteobl	bone
22	chr5:14251800-14254600	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr5:14251800-14254600	Weak transcription	Spleen	Spleen
24	chr5:14251800-14254600	Weak transcription	HSMMtube	muscle
25	chr5:14251800-14254600	Weak transcription	NH-A	brain
26	chr5:14251800-14255200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr5:14251800-14256400	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr5:14251800-14257200	Weak transcription	Brain Angular Gyrus	brain
29	chr5:14252000-14255200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr5:14252000-14255200	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr5:14252000-14256000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr5:14252000-14256400	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr5:14252000-14256400	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr5:14252000-14256800	Weak transcription	Fetal Stomach	stomach
35	chr5:14252000-14258200	Weak transcription	Brain Hippocampus Middle	brain
36	chr5:14252200-14254200	Enhancers	Fetal Heart	heart
37	chr5:14252200-14254800	Enhancers	Right Ventricle	heart
38	chr5:14252200-14255400	Weak transcription	Primary hematopoietic stem cells	blood
39	chr5:14252200-14256800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr5:14252200-14257000	Weak transcription	Brain Germinal Matrix	brain
41	chr5:14252200-14257000	Weak transcription	Fetal Brain Female	brain
42	chr5:14252200-14257400	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr5:14252400-14254000	ZNF genes & repeats	NHEK	skin
44	chr5:14252400-14254800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr5:14252400-14256200	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr5:14252400-14256800	Weak transcription	Fetal Brain Male	brain
47	chr5:14252400-14257600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr5:14252600-14254400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr5:14252600-14254600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr5:14252600-14254600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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