Variant report

Variant	rs28472422
Chromosome Location	chr4:186720407-186720408
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	chr4:186717627..186720449-chr4:186725999..186727628,2	MCF-7	breast:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10028167	1.00[ASN][1000 genomes]
rs28567591	1.00[ASN][1000 genomes]
rs28578545	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28582258	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28614100	1.00[ASN][1000 genomes]
rs28665762	1.00[ASN][1000 genomes]
rs61561178	1.00[ASN][1000 genomes]
rs72702058	1.00[ASN][1000 genomes]
rs72702070	1.00[ASN][1000 genomes]
rs72702080	1.00[ASN][1000 genomes]
rs72702082	1.00[ASN][1000 genomes]
rs72702088	1.00[ASN][1000 genomes]
rs72702092	1.00[ASN][1000 genomes]
rs72702095	1.00[ASN][1000 genomes]
rs72711509	1.00[ASN][1000 genomes]
rs73873386	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73873388	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73873390	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73873392	1.00[EUR][1000 genomes]
rs73873396	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432684	chr4:186412851-186742851	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1028146	chr4:186503899-187338335	Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1020731	chr4:186512433-186724031	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1023917	chr4:186533075-186997806	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv537420	chr4:186533075-186997806	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv830171	chr4:186610113-186789271	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv427702	chr4:186618031-186782377	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv530178	chr4:186659940-187478310	Bivalent Enhancer Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
9	nsv1015931	chr4:186683165-186734480	Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv1015236	chr4:186696172-187004074	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:186707200-186726600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr4:186714000-186726400	Weak transcription	Fetal Brain Male	brain
3	chr4:186714600-186724400	Weak transcription	Fetal Kidney	kidney
4	chr4:186714600-186729800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr4:186715200-186729800	Weak transcription	Ovary	ovary
6	chr4:186716200-186720800	Weak transcription	Right Atrium	heart
7	chr4:186716200-186721400	Weak transcription	Fetal Intestine Small	intestine
8	chr4:186716200-186724600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr4:186716200-186731800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr4:186716600-186722000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr4:186716600-186722000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr4:186717000-186721200	Weak transcription	HepG2	liver
13	chr4:186717200-186730200	Weak transcription	Fetal Intestine Large	intestine
14	chr4:186718200-186730400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr4:186718200-186730400	Weak transcription	Gastric	stomach
16	chr4:186719000-186721800	Weak transcription	Liver	Liver
17	chr4:186719000-186729600	Weak transcription	Fetal Brain Female	brain
18	chr4:186719000-186731800	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr4:186719200-186723600	Weak transcription	Left Ventricle	heart
20	chr4:186719200-186723600	Weak transcription	Right Ventricle	heart
21	chr4:186719200-186724200	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr4:186719200-186726600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr4:186719400-186720600	Weak transcription	Pancreas	Pancrea
24	chr4:186719400-186721600	Weak transcription	Fetal Stomach	stomach
25	chr4:186719400-186728600	Weak transcription	Rectal Smooth Muscle	rectum
26	chr4:186720400-186720800	Enhancers	Colon Smooth Muscle	Colon
27	chr4:186720400-186721000	Flanking Active TSS	Fetal Heart	heart
28	chr4:186720400-186728400	Weak transcription	Pancreatic Islets	Pancreatic Islet

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