Variant report

Variant	rs2899150
Chromosome Location	chr22:30837511-30837512
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	chr22:30821818..30823815-chr22:30836918..30838469,2	K562	blood:
2	chr22:30818867..30823842-chr22:30836918..30842867,11	K562	blood:

Variant related genes	Relation type
ENSG00000242114	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1047917	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1057995	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11089451	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1465222	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1465224	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2015166	1.00[CHB][hapmap];0.91[JPT][hapmap];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2074650	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2240345	0.92[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2269963	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2412986	0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2412987	1.00[CHB][hapmap];0.90[JPT][hapmap];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2412988	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3804078	0.82[ASN][1000 genomes]
rs4820013	0.88[YRI][hapmap];0.80[AFR][1000 genomes]
rs4820848	0.95[ASN][1000 genomes]
rs4820850	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4820851	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4820854	0.92[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs4820856	1.00[CHB][hapmap];0.90[JPT][hapmap];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4820857	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4820858	0.88[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5749095	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5749103	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5749104	0.85[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs5749105	0.82[ASN][1000 genomes]
rs5749108	0.81[EUR][1000 genomes]
rs5753141	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs5753143	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5753146	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5753148	0.84[AMR][1000 genomes]
rs5753150	0.87[ASN][1000 genomes]
rs5753151	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5753152	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5753156	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5753157	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5753160	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5753161	0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5753162	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5997650	0.95[ASN][1000 genomes]
rs5997653	0.92[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs5997654	0.81[ASN][1000 genomes]
rs5997655	0.93[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs5997656	0.93[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.81[ASN][1000 genomes]
rs757662	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs757663	0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8135169	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8141805	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9306260	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9306261	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9620988	0.95[ASN][1000 genomes]
rs9620998	0.91[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.81[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	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv914970	chr22:30619599-30850395	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
4	nsv459870	chr22:30836313-30868418	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv588886	chr22:30836313-30868418	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2899150	SEC14L3	cis	Whole Blood	GTEx

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30824400-30839000	Weak transcription	Hela-S3	cervix
2	chr22:30831800-30841000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr22:30832000-30841600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr22:30832000-30850000	Weak transcription	Right Atrium	heart
5	chr22:30832200-30852400	Weak transcription	Spleen	Spleen
6	chr22:30832600-30837800	Weak transcription	Primary B cells from peripheral blood	blood
7	chr22:30836000-30838400	Enhancers	Ovary	ovary
8	chr22:30836400-30839000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr22:30836400-30839000	Weak transcription	HMEC	breast
10	chr22:30836400-30839200	Weak transcription	Esophagus	oesophagus
11	chr22:30836400-30840600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr22:30836600-30838400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr22:30837000-30837600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr22:30837200-30839200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr22:30837200-30839600	Enhancers	K562	blood
16	chr22:30837400-30841200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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