Variant report

Variant	rs278046
Chromosome Location	chr13:30428389-30428390
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:30420595..30432624-chr13:30489594..30503683,39	MCF-7	breast:
2	chr13:30422516..30424271-chr13:30426326..30429271,2	K562	blood:
3	chr13:30428025..30429694-chr13:30678131..30680378,2	MCF-7	breast:
4	chr13:30426623..30428977-chr5:41516174..41518138,2	MCF-7	breast:
5	chr13:30428241..30431118-chr13:30681193..30683235,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000224405	Chromatin interaction
ENSG00000224511	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs17631187	0.81[ASN][1000 genomes]
rs278043	0.97[AFR][1000 genomes]
rs278045	0.89[ASN][1000 genomes]
rs278050	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs278051	0.96[ASN][1000 genomes]
rs278052	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9550497	0.84[ASN][1000 genomes]
rs9550500	0.84[ASN][1000 genomes]
rs9551742	0.84[ASN][1000 genomes]
rs9551746	0.84[ASN][1000 genomes]
rs9551747	0.81[ASN][1000 genomes]
rs9634356	0.84[ASN][1000 genomes]
rs980524	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3520592	chr13:30243601-30648554	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv3520593	chr13:30243601-30648554	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30424800-30429600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr13:30425200-30428400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr13:30425200-30429600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr13:30425200-30429800	Weak transcription	Fetal Intestine Small	intestine
5	chr13:30425200-30429800	Weak transcription	Pancreas	Pancrea
6	chr13:30425200-30430000	Weak transcription	Primary hematopoietic stem cells	blood
7	chr13:30425200-30430200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr13:30425200-30430200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr13:30425400-30428600	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr13:30425400-30429600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr13:30425400-30429800	Weak transcription	Fetal Lung	lung
12	chr13:30425400-30429800	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr13:30425400-30429800	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr13:30425400-30430000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr13:30425400-30430000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr13:30425400-30430000	Weak transcription	Stomach Mucosa	stomach
17	chr13:30425400-30430200	Weak transcription	Fetal Kidney	kidney
18	chr13:30425600-30429800	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr13:30425600-30429800	Weak transcription	Hela-S3	cervix
20	chr13:30427200-30432000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr13:30427200-30434000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr13:30427400-30432000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr13:30427400-30432200	Weak transcription	NHDF-Ad	bronchial
24	chr13:30427400-30434200	Weak transcription	HSMM	muscle
25	chr13:30427600-30429800	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr13:30427600-30430000	Weak transcription	Osteobl	bone
27	chr13:30427600-30435600	Weak transcription	A549	lung
28	chr13:30427800-30432200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr13:30427800-30432600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr13:30428200-30432000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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