Variant report

Variant	rs5763347
Chromosome Location	chr22:29978758-29978759
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA2	chr22:29978694-29979070	K562	blood:	n/a	n/a
2	GATA3	chr22:29978735-29979041	T-47D	breast:	n/a	n/a
3	GATA2	chr22:29978700-29979052	SH-SY5Y	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:29947295..29951735-chr22:29976015..29980297,4	K562	blood:
2	chr22:29663275..29666008-chr22:29976454..29978804,2	K562	blood:

Variant related genes	Relation type
NIPSNAP1	TF binding region
ENSG00000100296	Chromatin interaction
ENSG00000182944	Chromatin interaction
ENSG00000100263	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1009147	0.88[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap]
rs105268	1.00[JPT][hapmap]
rs11090576	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs165602	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs165607	1.00[JPT][hapmap]
rs165624	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs165633	1.00[JPT][hapmap]
rs165649	1.00[JPT][hapmap]
rs165734	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs165821	1.00[JPT][hapmap]
rs165853	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs165899	0.80[AMR][1000 genomes]
rs17460259	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs174649	1.00[JPT][hapmap]
rs174718	1.00[JPT][hapmap]
rs1800540	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2008880	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2530660	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2857634	0.88[CEU][hapmap];0.82[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs457930	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs465736	1.00[JPT][hapmap]
rs467669	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs467768	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs468563	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs469189	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4823046	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4823048	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5752917	1.00[JPT][hapmap]
rs5763315	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5763348	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6006207	1.00[YRI][hapmap]
rs6006219	1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs695776	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73159014	0.92[ASN][1000 genomes]
rs737979	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9625852	0.82[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529742	chr22:29677909-30274388	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1058156	chr22:29772043-30024013	Strong transcription Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv544675	chr22:29772043-30024013	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv1062373	chr22:29826745-30092448	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv544676	chr22:29826745-30092448	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
7	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
8	nsv834172	chr22:29899036-30057948	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
9	nsv521852	chr22:29974831-29983138	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs5763347	NIPSNAP1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29977200-29978800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr22:29977600-29979200	Enhancers	Thymus	Thymus
3	chr22:29977600-29998800	Weak transcription	Right Atrium	heart
4	chr22:29977800-29978800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr22:29977800-29979000	Enhancers	Placenta	Placenta
6	chr22:29977800-29979200	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr22:29977800-29979400	Enhancers	Fetal Thymus	thymus
8	chr22:29977800-29979400	Enhancers	HepG2	liver
9	chr22:29977800-29984000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr22:29977800-29994200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr22:29978000-29979000	Enhancers	K562	blood
12	chr22:29978000-29979200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr22:29978000-29983200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr22:29978200-29978800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr22:29978200-29978800	Enhancers	Duodenum Mucosa	Duodenum
16	chr22:29978200-29979400	Enhancers	Dnd41	blood
17	chr22:29978200-29983600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr22:29978200-29983600	Weak transcription	HMEC	breast
19	chr22:29978200-29984000	Weak transcription	Hela-S3	cervix
20	chr22:29978400-29978800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr22:29978400-29983200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr22:29978600-29979000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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