Variant report

Variant	rs9316361
Chromosome Location	chr13:48717437-48717438
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11617143	0.90[EUR][1000 genomes]
rs11617714	0.88[EUR][1000 genomes]
rs11618304	0.88[EUR][1000 genomes]
rs11618554	0.90[EUR][1000 genomes]
rs11618672	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs41284209	0.90[EUR][1000 genomes]
rs41287449	0.90[EUR][1000 genomes]
rs7337521	0.90[EUR][1000 genomes]
rs9562803	0.90[EUR][1000 genomes]
rs9567990	0.88[EUR][1000 genomes]
rs9567992	0.90[EUR][1000 genomes]
rs9567995	0.89[EUR][1000 genomes]
rs9568007	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9568011	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832601	chr13:48569952-48735939	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv541766	chr13:48703229-48857639	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv1047140	chr13:48703732-48765860	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv541767	chr13:48703732-48765860	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48701800-48725800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr13:48715600-48720600	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr13:48716200-48720000	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr13:48716400-48718000	Weak transcription	Spleen	Spleen
5	chr13:48716400-48718800	Weak transcription	Lung	lung
6	chr13:48716600-48718000	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr13:48716600-48726000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr13:48716800-48718000	Weak transcription	Adipose Nuclei	Adipose
9	chr13:48716800-48718000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr13:48716800-48718200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr13:48717000-48718000	Weak transcription	Primary hematopoietic stem cells	blood
12	chr13:48717000-48718000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr13:48717000-48718000	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr13:48717000-48718000	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr13:48717000-48718200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr13:48717000-48718200	Weak transcription	HUVEC	blood vessel
17	chr13:48717000-48718600	Weak transcription	HepG2	liver
18	chr13:48717000-48718800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr13:48717000-48718800	Weak transcription	GM12878-XiMat	blood
20	chr13:48717200-48718200	Weak transcription	Primary B cells from cord blood	blood
21	chr13:48717200-48718400	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr13:48717200-48722400	Weak transcription	Thymus	Thymus
23	chr13:48717400-48717800	Weak transcription	Primary B cells from peripheral blood	blood
24	chr13:48717400-48733200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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