Variant report

Variant	rs4699354
Chromosome Location	chr4:99510733-99510734
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:99502636..99505543-chr4:99509229..99510735,2	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10002696	0.94[JPT][hapmap]
rs10006366	0.94[JPT][hapmap]
rs10023449	0.84[ASN][1000 genomes]
rs10025051	0.94[JPT][hapmap]
rs10029405	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11097622	0.91[ASN][1000 genomes]
rs11940430	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13108940	0.94[JPT][hapmap]
rs1358546	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs1358547	0.91[ASN][1000 genomes]
rs1534555	1.00[JPT][hapmap]
rs1573478	1.00[JPT][hapmap]
rs1893713	0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1893714	0.82[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap]
rs2037832	0.94[JPT][hapmap]
rs2866016	1.00[ASW][hapmap];0.85[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.85[MEX][hapmap];0.81[MKK][hapmap];0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4699343	0.94[JPT][hapmap]
rs4699345	0.94[JPT][hapmap]
rs4699348	1.00[JPT][hapmap]
rs4699349	1.00[JPT][hapmap]
rs4699353	0.82[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap]
rs4699639	0.94[JPT][hapmap]
rs4699640	0.94[JPT][hapmap]
rs6532751	0.85[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7678323	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs883619	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs9996851	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754250	chr4:99094922-99527122	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1004181	chr4:99208152-99529576	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv2760882	chr4:99460485-99521345	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4699354	TSPAN5	cis	cerebellum	SCAN

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99507000-99513600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr4:99508200-99510800	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr4:99508200-99513600	Weak transcription	NHEK	skin
4	chr4:99508400-99511200	Weak transcription	Fetal Lung	lung
5	chr4:99508600-99512000	Weak transcription	Ovary	ovary
6	chr4:99508600-99512800	Weak transcription	Fetal Heart	heart
7	chr4:99508800-99523400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr4:99509400-99510800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr4:99509400-99520600	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr4:99509600-99510800	Enhancers	Brain Inferior Temporal Lobe	brain
11	chr4:99509600-99511000	Enhancers	Brain Germinal Matrix	brain
12	chr4:99509600-99511000	Enhancers	Brain Hippocampus Middle	brain
13	chr4:99509600-99511200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr4:99509600-99520200	Weak transcription	NH-A	brain
15	chr4:99509600-99522200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr4:99509800-99510800	Enhancers	HMEC	breast
17	chr4:99509800-99511000	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr4:99509800-99511200	Weak transcription	NHDF-Ad	bronchial
19	chr4:99509800-99511400	Enhancers	Fetal Brain Female	brain
20	chr4:99509800-99512000	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr4:99510000-99511000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr4:99510000-99511000	Enhancers	Fetal Brain Male	brain
23	chr4:99510200-99510800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr4:99510200-99510800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr4:99510200-99511200	Enhancers	H9 Cell Line	embryonic stem cell
26	chr4:99510400-99511000	ZNF genes & repeats	Fetal Muscle Leg	muscle
27	chr4:99510400-99511800	Weak transcription	Brain Anterior Caudate	brain
28	chr4:99510400-99512000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr4:99510600-99511200	Enhancers	iPS-18 Cell Line	embryonic stem cell

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