Variant report

Variant	rs73242666
Chromosome Location	chr4:58030045-58030046
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:58029858..58030814-chr4:61066548..61067410,2	MCF-7	breast:
2	chr4:58029500..58030425-chr4:58077363..58078281,2	K562	blood:
3	chr4:58029785..58030392-chr4:58308601..58309522,5	MCF-7	breast:
4	chr4:58029815..58031079-chr4:58292757..58293624,5	MCF-7	breast:
5	chr4:58029871..58030704-chr4:58365680..58366601,2	MCF-7	breast:
6	chr4:57903844..57905210-chr4:58029367..58030801,11	MCF-7	breast:
7	chr4:58029782..58030671-chr4:61066747..61067417,3	MCF-7	breast:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12501536	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12501656	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12510725	0.89[ASN][1000 genomes]
rs12641603	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12647861	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12651013	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34892607	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56366028	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73242667	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73818645	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7654584	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7666418	1.00[ASN][1000 genomes]
rs7676099	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7676319	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7677407	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868815	chr4:57114268-58084688	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv1010053	chr4:57978944-58331324	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv594207	chr4:57987433-58098554	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:58029400-58030400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:58029400-58030800	Active TSS	Duodenum Smooth Muscle	Duodenum
3	chr4:58029600-58030200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr4:58029600-58030200	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
5	chr4:58029600-58030200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
6	chr4:58029600-58030200	Flanking Active TSS	NHEK	skin
7	chr4:58029600-58030400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
8	chr4:58029600-58030400	Active TSS	Primary T cells from cord blood	blood
9	chr4:58029600-58030400	Active TSS	Primary T helper naive cells from peripheral blood	blood
10	chr4:58029600-58030400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
11	chr4:58029600-58030400	Active TSS	Brain Inferior Temporal Lobe	brain
12	chr4:58029600-58030400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr4:58029600-58030400	Active TSS	Fetal Kidney	kidney
14	chr4:58029600-58030400	Active TSS	Ovary	ovary
15	chr4:58029600-58030600	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr4:58029600-58030800	Enhancers	Stomach Mucosa	stomach
17	chr4:58029600-58031000	Enhancers	Fetal Heart	heart
18	chr4:58029800-58030200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr4:58029800-58030200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr4:58029800-58030200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr4:58029800-58030200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
22	chr4:58029800-58030200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr4:58029800-58030200	Flanking Active TSS	Colonic Mucosa	Colon
24	chr4:58029800-58030200	Flanking Active TSS	Fetal Intestine Large	intestine
25	chr4:58029800-58030200	Flanking Active TSS	Fetal Lung	lung
26	chr4:58029800-58030200	Flanking Active TSS	Fetal Muscle Leg	muscle
27	chr4:58029800-58030200	Active TSS	Gastric	stomach
28	chr4:58029800-58030200	Flanking Active TSS	Right Ventricle	heart
29	chr4:58029800-58030200	Flanking Active TSS	HMEC	breast
30	chr4:58029800-58030200	Flanking Active TSS	HSMM	muscle
31	chr4:58029800-58030200	Flanking Active TSS	HUVEC	blood vessel
32	chr4:58029800-58030400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
33	chr4:58029800-58030400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr4:58029800-58030400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr4:58029800-58030400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr4:58029800-58030400	Active TSS	HUES6 Cell Line	embryonic stem cell
37	chr4:58029800-58030400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr4:58029800-58030400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr4:58029800-58030400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr4:58029800-58030400	Active TSS	Primary monocytes fromperipheralblood	blood
41	chr4:58029800-58030400	Flanking Active TSS	Primary B cells from peripheral blood	blood
42	chr4:58029800-58030400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
43	chr4:58029800-58030400	Active TSS	Primary T helper cells fromperipheralblood	blood
44	chr4:58029800-58030400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
45	chr4:58029800-58030400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
46	chr4:58029800-58030400	Active TSS	Primary T killer memory cells from peripheral blood	blood
47	chr4:58029800-58030400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr4:58029800-58030400	Active TSS	Brain Angular Gyrus	brain
49	chr4:58029800-58030400	Active TSS	Brain Anterior Caudate	brain
50	chr4:58029800-58030400	Active TSS	Brain Germinal Matrix	brain

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