Variant report

Variant	rs28451372
Chromosome Location	chr4:57737761-57737762
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	chr4:57734226..57738825-chr4:57772545..57776428,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000084093	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10017202	0.80[EUR][1000 genomes]
rs11941996	0.95[EUR][1000 genomes]
rs11942607	0.94[ASN][1000 genomes]
rs1980095	1.00[ASN][1000 genomes]
rs2227902	0.88[ASN][1000 genomes]
rs2227903	0.88[ASN][1000 genomes]
rs28472594	0.94[ASN][1000 genomes]
rs28725345	0.93[EUR][1000 genomes]
rs3755901	1.00[ASN][1000 genomes]
rs4425443	0.85[AFR][1000 genomes]
rs73242603	0.94[ASN][1000 genomes]
rs7673980	0.83[ASN][1000 genomes]
rs781552	0.92[ASN][1000 genomes]
rs781557	0.94[ASN][1000 genomes]
rs781559	0.94[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	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	nsv1012287	chr4:57652778-57853485	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv1012125	chr4:57668229-57865803	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv822561	chr4:57736121-57747867	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57727800-57740600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:57736800-57738000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr4:57736800-57738200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr4:57737000-57737800	Enhancers	Fetal Brain Female	brain
5	chr4:57737000-57738000	Enhancers	Fetal Brain Male	brain
6	chr4:57737000-57738200	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr4:57737200-57737800	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr4:57737200-57737800	Enhancers	Brain Angular Gyrus	brain
9	chr4:57737200-57737800	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr4:57737200-57738000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr4:57737200-57738000	Enhancers	H9 Cell Line	embryonic stem cell
12	chr4:57737200-57738000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr4:57737200-57738000	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr4:57737200-57738000	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr4:57737200-57738000	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr4:57737200-57738000	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr4:57737200-57738000	Enhancers	Primary B cells from peripheral blood	blood
18	chr4:57737200-57738000	Flanking Active TSS	Adipose Nuclei	Adipose
19	chr4:57737200-57738000	Flanking Active TSS	Brain Anterior Caudate	brain
20	chr4:57737200-57738000	Enhancers	Right Atrium	heart
21	chr4:57737200-57738000	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr4:57737200-57738000	Enhancers	Dnd41	blood
23	chr4:57737200-57738000	Enhancers	HSMMtube	muscle
24	chr4:57737200-57738000	Enhancers	NHDF-Ad	bronchial
25	chr4:57737200-57738200	Enhancers	H1 Cell Line	embryonic stem cell
26	chr4:57737200-57738200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr4:57737200-57738200	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr4:57737200-57738200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr4:57737200-57738200	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr4:57737200-57738200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr4:57737200-57738200	Enhancers	Brain Cingulate Gyrus	brain
32	chr4:57737200-57738200	Enhancers	Fetal Stomach	stomach
33	chr4:57737200-57738600	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr4:57737200-57739000	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr4:57737200-57740800	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr4:57737400-57737800	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr4:57737400-57737800	Enhancers	Primary T killer memory cells from peripheral blood	blood
38	chr4:57737400-57737800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr4:57737400-57737800	Active TSS	Brain Substantia Nigra	brain
40	chr4:57737400-57737800	Enhancers	Thymus	Thymus
41	chr4:57737400-57737800	Enhancers	NH-A	brain
42	chr4:57737400-57738000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr4:57737400-57738000	Flanking Active TSS	Primary hematopoietic stem cells	blood
44	chr4:57737400-57738000	Enhancers	Muscle Satellite Cultured Cells	--
45	chr4:57737400-57738000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr4:57737400-57738000	Flanking Active TSS	Fetal Muscle Leg	muscle
47	chr4:57737400-57738000	Enhancers	GM12878-XiMat	blood
48	chr4:57737400-57738000	Flanking Active TSS	HSMM	muscle
49	chr4:57737400-57738000	Bivalent Enhancer	NHLF	lung
50	chr4:57737400-57738200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived

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