Variant report

Variant	rs4910483
Chromosome Location	chr11:9649120-9649121
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	chr11:9633888..9637224-chr11:9645529..9649937,4	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10743114	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10743115	0.84[EUR][1000 genomes]
rs10770053	0.82[AMR][1000 genomes]
rs10840276	0.87[ASN][1000 genomes]
rs10840279	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs11042452	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11042453	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11042454	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12361442	0.83[AMR][1000 genomes]
rs1865558	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2060477	0.85[AMR][1000 genomes]
rs2082807	0.81[ASN][1000 genomes]
rs7118466	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7118581	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs715333	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs737617	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7950021	0.88[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	nsv896986	chr11:9636854-9679145	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv933855	chr11:9645441-10130519	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv1053369	chr11:9647837-9876054	Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4910483	SWAP70	Cis_1M	lymphoblastoid	RTeQTL
rs4910483	TRIM66	cis	inferior olivary nucleus	BrainEAC

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9646400-9649200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr11:9646800-9649400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr11:9646800-9649400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr11:9646800-9650600	Enhancers	H1 Cell Line	embryonic stem cell
5	chr11:9646800-9650600	Enhancers	GM12878-XiMat	blood
6	chr11:9647400-9649400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr11:9647600-9649600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr11:9647600-9650400	Weak transcription	Spleen	Spleen
9	chr11:9647600-9652400	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr11:9647800-9649200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr11:9647800-9652200	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr11:9647800-9654800	Weak transcription	Primary B cells from cord blood	blood
13	chr11:9648000-9649200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr11:9648200-9649200	Enhancers	Lung	lung
15	chr11:9648200-9649400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr11:9648400-9650400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr11:9648400-9650600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:9648600-9649800	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr11:9648600-9650600	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr11:9648800-9650000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr11:9648800-9650400	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr11:9648800-9650800	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr11:9649000-9649200	Enhancers	Primary B cells from peripheral blood	blood
24	chr11:9649000-9649400	Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr11:9649000-9649400	Enhancers	HUVEC	blood vessel
26	chr11:9649000-9650400	Weak transcription	K562	blood

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