Variant report

Variant	rs72813842
Chromosome Location	chr5:114596692-114596693
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:114596551..114598881-chr5:114630526..114633575,4	MCF-7	breast:
2	chr5:114585052..114588251-chr5:114594409..114598098,3	MCF-7	breast:
3	chr5:114593990..114598856-chr5:114605325..114609897,4	K562	blood:

Variant related genes	Relation type
ENSG00000164221	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs3805579	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56400472	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66611625	0.82[EUR][1000 genomes]
rs66995219	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67430998	0.93[EUR][1000 genomes]
rs68086593	0.87[EUR][1000 genomes]
rs72813817	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72813822	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72813826	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72813828	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72813830	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72813833	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72813836	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72813838	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72813839	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72813840	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72813844	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72813845	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72813846	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72813849	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72813852	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830454	chr5:114453864-114607159	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114548400-114596800	Weak transcription	K562	blood
2	chr5:114549400-114597200	Weak transcription	Aorta	Aorta
3	chr5:114563400-114597600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr5:114565200-114597400	Weak transcription	Colonic Mucosa	Colon
5	chr5:114575000-114597000	Weak transcription	Fetal Stomach	stomach
6	chr5:114575800-114597000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr5:114576000-114596800	Weak transcription	Fetal Kidney	kidney
8	chr5:114576000-114596800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr5:114576200-114596800	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr5:114576600-114597000	Weak transcription	Brain Substantia Nigra	brain
11	chr5:114576800-114597000	Weak transcription	Thymus	Thymus
12	chr5:114576800-114597400	Weak transcription	Fetal Muscle Trunk	muscle
13	chr5:114577000-114596800	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr5:114577000-114596800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr5:114577000-114597200	Weak transcription	Placenta	Placenta
16	chr5:114577200-114596800	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr5:114577400-114596800	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr5:114579600-114597000	Weak transcription	Small Intestine	intestine
19	chr5:114579800-114597000	Weak transcription	Fetal Intestine Small	intestine
20	chr5:114579800-114597400	Weak transcription	Left Ventricle	heart
21	chr5:114584600-114596800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr5:114584600-114597000	Weak transcription	Primary hematopoietic stem cells	blood
23	chr5:114584600-114597000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr5:114584600-114597000	Weak transcription	Fetal Intestine Large	intestine
25	chr5:114584600-114597000	Weak transcription	Fetal Muscle Leg	muscle
26	chr5:114584600-114597200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr5:114585400-114597000	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr5:114585400-114597200	Weak transcription	Fetal Thymus	thymus
29	chr5:114587800-114597000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr5:114591000-114597000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr5:114591600-114597000	Weak transcription	Adipose Nuclei	Adipose
32	chr5:114592400-114597000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr5:114592600-114597400	Weak transcription	Esophagus	oesophagus
34	chr5:114593200-114597000	Weak transcription	Brain Cingulate Gyrus	brain
35	chr5:114593800-114596800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr5:114594400-114597400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
37	chr5:114594600-114597000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr5:114594600-114597400	Weak transcription	Right Atrium	heart
39	chr5:114594600-114597600	Weak transcription	Pancreas	Pancrea
40	chr5:114594800-114597000	Weak transcription	Ovary	ovary
41	chr5:114594800-114597000	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr5:114594800-114597000	Weak transcription	HSMMtube	muscle
43	chr5:114594800-114597200	Weak transcription	Brain Hippocampus Middle	brain
44	chr5:114594800-114597400	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr5:114595000-114597000	Weak transcription	A549	lung
46	chr5:114595000-114597200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr5:114595000-114597400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr5:114595200-114596800	Weak transcription	Primary B cells from peripheral blood	blood
49	chr5:114595200-114597000	Weak transcription	Psoas Muscle	Psoas
50	chr5:114595200-114597600	Weak transcription	Lung	lung

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