Variant report

Variant	rs9551753
Chromosome Location	chr13:30431468-30431469
allele	A/C
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	chr13:30430540..30432862-chr13:30481400..30484007,3	MCF-7	breast:
3	chr13:30424847..30426719-chr13:30430833..30432673,4	MCF-7	breast:
4	chr13:30425761..30427408-chr13:30430523..30432297,2	MCF-7	breast:
5	chr13:30422995..30424634-chr13:30430611..30432462,3	MCF-7	breast:
6	chr13:30423178..30424939-chr13:30431038..30432634,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000122042	Chromatin interaction
ENSG00000224405	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1058650	0.94[CEU][hapmap];0.90[CHB][hapmap];0.81[JPT][hapmap]
rs12872400	1.00[CEU][hapmap];0.86[CHB][hapmap];0.81[JPT][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1323931	0.91[CHB][hapmap];0.81[JPT][hapmap];0.88[ASN][1000 genomes]
rs2025604	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2182129	0.94[CEU][hapmap];0.90[CHB][hapmap];0.80[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2234416	0.88[CEU][hapmap];0.90[CHB][hapmap];0.81[JPT][hapmap]
rs2388246	1.00[CEU][hapmap];0.91[CHB][hapmap];0.81[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2388247	1.00[CEU][hapmap];0.90[CHB][hapmap];0.81[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2761938	0.81[CHB][hapmap];0.80[ASN][1000 genomes]
rs2761939	0.81[ASN][1000 genomes]
rs2761940	0.81[ASN][1000 genomes]
rs278034	0.83[ASN][1000 genomes]
rs278049	0.83[CHB][hapmap]
rs35541102	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4297554	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7320474	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs765404	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7981622	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9314978	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9506226	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9506231	0.94[CEU][hapmap];0.91[CHB][hapmap];0.81[JPT][hapmap];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9506233	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9508553	0.90[CHB][hapmap];0.81[JPT][hapmap];0.85[ASN][1000 genomes]
rs9508557	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9508558	1.00[CEU][hapmap];0.90[CHB][hapmap];0.81[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9508559	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9508560	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9508561	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9508564	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9508568	0.81[ASN][1000 genomes]
rs9551741	0.82[EUR][1000 genomes]
rs9551751	0.90[CHB][hapmap];0.81[JPT][hapmap];0.91[ASN][1000 genomes]
rs9578136	0.94[CEU][hapmap];0.91[CHB][hapmap];0.81[JPT][hapmap]

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:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30427200-30432000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr13:30427200-30434000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr13:30427400-30432000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr13:30427400-30432200	Weak transcription	NHDF-Ad	bronchial
5	chr13:30427400-30434200	Weak transcription	HSMM	muscle
6	chr13:30427600-30435600	Weak transcription	A549	lung
7	chr13:30427800-30432200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr13:30427800-30432600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr13:30428200-30432000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr13:30428400-30432000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr13:30429600-30431600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr13:30429800-30431600	Enhancers	HepG2	liver
13	chr13:30429800-30432400	Enhancers	Placenta Amnion	Placenta Amnion
14	chr13:30430000-30431600	Enhancers	Stomach Mucosa	stomach
15	chr13:30430000-30435400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr13:30430200-30431800	Weak transcription	Lung	lung
17	chr13:30430200-30435400	Weak transcription	Placenta	Placenta
18	chr13:30430600-30432000	Weak transcription	Osteobl	bone
19	chr13:30430800-30431600	Enhancers	Fetal Lung	lung
20	chr13:30430800-30433000	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr13:30430800-30436600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr13:30431000-30432200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr13:30431000-30432600	Enhancers	Rectal Mucosa Donor 31	rectum

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