Variant report

Variant	rs7983982
Chromosome Location	chr13:38943029-38943030
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	chr13:38937794..38939477-chr13:38941816..38944782,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10507471	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10507472	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11838417	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11838861	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11839922	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17057779	0.86[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17057796	1.00[AMR][1000 genomes]
rs17057811	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17057850	0.86[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17057855	0.86[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17057857	0.86[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17057937	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17057940	1.00[AMR][1000 genomes]
rs17057980	1.00[AMR][1000 genomes]
rs17057987	1.00[AMR][1000 genomes]
rs2231327	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7326143	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7327873	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7330234	0.86[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7338651	0.87[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][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:15 , 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	chr13:38936400-38947200	Weak transcription	HepG2	liver
5	chr13:38938000-38943200	Weak transcription	Fetal Brain Female	brain
6	chr13:38938000-38943400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr13:38938000-38946800	Weak transcription	Liver	Liver
8	chr13:38938000-38947000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr13:38938000-38947200	Weak transcription	Fetal Kidney	kidney
10	chr13:38940400-38944800	Weak transcription	Primary hematopoietic stem cells	blood
11	chr13:38940600-38943800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr13:38940800-38943200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr13:38940800-38943200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr13:38942200-38951000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr13:38943000-38943600	Enhancers	Fetal Heart	heart

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