Variant report

Variant	rs74047554
Chromosome Location	chr13:38940304-38940305
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:38924316..38926531-chr13:38938318..38940718,2	MCF-7	breast:
2	chr13:36918448..36921379-chr13:38939696..38941798,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000120664	Chromatin interaction
ENSG00000133104	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1011484	1.00[ASN][1000 genomes]
rs10507469	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10507470	1.00[ASN][1000 genomes]
rs1590952	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17057710	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17057848	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17057900	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2019516	1.00[ASN][1000 genomes]
rs2173948	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2231320	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2231335	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2231336	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2455408	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2455413	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2481887	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2481888	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2481892	1.00[ASN][1000 genomes]
rs2485779	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2496468	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56306542	1.00[ASN][1000 genomes]
rs7322186	1.00[ASN][1000 genomes]
rs73460283	1.00[ASN][1000 genomes]
rs74047550	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74047551	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74047552	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74047553	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9532217	1.00[ASN][1000 genomes]
rs9548328	1.00[ASN][1000 genomes]
rs9888482	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915901	chr13:38199035-39032633	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv869125	chr13:38550449-39132813	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv949406	chr13:38561474-39033484	Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv900006	chr13:38924871-38970825	Genic enhancers ZNF genes & repeats Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	esv1851668	chr13:38928976-38948851	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:38926200-38947000	Weak transcription	Ovary	ovary
2	chr13:38926200-38947000	Weak transcription	Hela-S3	cervix
3	chr13:38927400-38943200	Weak transcription	K562	blood
4	chr13:38931400-38941000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr13:38933600-38940400	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr13:38933600-38943000	Weak transcription	Fetal Heart	heart
7	chr13:38936400-38941200	Weak transcription	NHLF	lung
8	chr13:38936400-38947200	Weak transcription	HepG2	liver
9	chr13:38937600-38940800	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr13:38937600-38941000	Weak transcription	HMEC	breast
11	chr13:38937800-38940400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr13:38937800-38941000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr13:38938000-38940600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr13:38938000-38940600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr13:38938000-38940800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr13:38938000-38940800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr13:38938000-38941000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr13:38938000-38941000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr13:38938000-38941000	Weak transcription	HUVEC	blood vessel
20	chr13:38938000-38941000	Weak transcription	NHEK	skin
21	chr13:38938000-38941000	Weak transcription	Osteobl	bone
22	chr13:38938000-38941600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr13:38938000-38943200	Weak transcription	Fetal Brain Female	brain
24	chr13:38938000-38943400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr13:38938000-38946800	Weak transcription	Liver	Liver
26	chr13:38938000-38947000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr13:38938000-38947200	Weak transcription	Fetal Kidney	kidney
28	chr13:38938200-38941000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr13:38939000-38940800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr13:38939200-38940800	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr13:38939600-38940400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr13:38939800-38942000	Enhancers	NHDF-Ad	bronchial
33	chr13:38940200-38940400	Enhancers	Primary hematopoietic stem cells	blood

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