Variant report

Variant	rs5994471
Chromosome Location	chr22:32532325-32532326
allele	A/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	CTCF	chr22:32532260-32532410	HMEC	breast:	n/a	chr22:32532363-32532381 chr22:32532358-32532379
2	CTCF	chr22:32532321-32532482	GM10266	blood:	n/a	chr22:32532363-32532381 chr22:32532358-32532379
3	SIN3AK20	chr22:32531978-32532351	HCT-116	colon:	n/a	n/a
4	JUND	chr22:32531963-32532325	HCT-116	colon:	n/a	n/a
5	GATA2	chr22:32532050-32532395	HUVEC	blood vessel:	n/a	n/a
6	STAT3	chr22:32532048-32532364	MCF10A-Er-Src	breast:	n/a	n/a
7	ELF1	chr22:32531898-32532333	HCT-116	colon:	n/a	chr22:32532120-32532133
8	CTCF	chr22:32532312-32532426	K562	blood:	n/a	chr22:32532363-32532381 chr22:32532358-32532379
9	FOS	chr22:32531986-32532355	MCF10A-Er-Src	breast:	n/a	n/a
10	POLR2A	chr22:32532014-32532370	HUVEC	blood vessel:	n/a	n/a
11	CTCF	chr22:32532308-32532448	MCF-7	breast:	n/a	chr22:32532363-32532381 chr22:32532358-32532379
12	SP1	chr22:32531892-32532341	HCT-116	colon:	n/a	chr22:32532103-32532117
13	CEBPB	chr22:32532032-32532344	HCT-116	colon:	n/a	n/a
14	CBX3	chr22:32531989-32532330	HCT-116	colon:	n/a	n/a
15	STAT3	chr22:32532052-32532359	MCF10A-Er-Src	breast:	n/a	n/a
16	STAT3	chr22:32532067-32532355	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	22:32529813-32538538..22:32740683-32750950	H1-hESC	embryonic stem cell:	embryo
2	22:32529813-32538538..22:32868055-32872511	K562	blood:
3	22:32529813-32538538..22:32878464-32886640	K562	blood:
4	22:32529813-32538538..22:32860159-32865649	GM12878	blood:
5	22:31836635-31847259..22:32529813-32538538	K562	blood:
6	22:32529813-32538538..22:32750950-32761732	K562	blood:
7	22:32012966-32043914..22:32529813-32538538	K562	blood:
8	22:32529813-32538538..22:32764253-32784733	H1-hESC	embryonic stem cell:	embryo

Variant related genes	Relation type
ENSG00000239674	TF binding region
ENSG00000184459	Chromatin interaction
ENSG00000241954	Chromatin interaction
ENSG00000128276	Chromatin interaction
ENSG00000232218	Chromatin interaction
ENSG00000243519	Chromatin interaction
ENSG00000230736	Chromatin interaction
ENSG00000205853	Chromatin interaction
ENSG00000271093	Chromatin interaction
ENSG00000100225	Chromatin interaction
ENSG00000241878	Chromatin interaction
ENSG00000184708	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1076906	1.00[ASN][1000 genomes]
rs11089537	0.86[ASN][1000 genomes]
rs12159428	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12160839	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2006233	1.00[ASN][1000 genomes]
rs2006253	1.00[ASN][1000 genomes]
rs28590200	1.00[ASN][1000 genomes]
rs55920759	0.86[ASN][1000 genomes]
rs5994472	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5994473	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998234	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998249	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998264	0.86[ASN][1000 genomes]
rs7287435	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8138116	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8142970	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9606899	1.00[ASN][1000 genomes]
rs9606901	1.00[ASN][1000 genomes]
rs9606909	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9606910	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9606911	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9609421	1.00[ASN][1000 genomes]
rs9609422	1.00[ASN][1000 genomes]
rs9609424	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9609434	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9609435	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9609438	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9609440	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9609445	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834177	chr22:32416679-32594663	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	nsv948789	chr22:32462505-32764760	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	nsv1065175	chr22:32467617-32761093	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
4	nsv544680	chr22:32467617-32761093	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
5	esv2830423	chr22:32477718-32767825	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
6	esv2422247	chr22:32486448-32788258	Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
7	nsv834178	chr22:32490449-32677521	Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
8	nsv962788	chr22:32528613-32537754	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32515800-32533600	Weak transcription	Right Atrium	heart
2	chr22:32529200-32533000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr22:32529200-32533600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr22:32529400-32533000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr22:32529600-32533000	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr22:32529600-32533000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr22:32529600-32533600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr22:32531400-32532400	Enhancers	Rectal Mucosa Donor 29	rectum
9	chr22:32531400-32532400	Enhancers	Osteobl	bone
10	chr22:32531400-32532800	Enhancers	HMEC	breast
11	chr22:32531600-32532600	Enhancers	NH-A	brain
12	chr22:32531800-32532400	Enhancers	Muscle Satellite Cultured Cells	--
13	chr22:32531800-32532400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr22:32531800-32532600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr22:32531800-32532600	Enhancers	NHEK	skin
16	chr22:32531800-32532800	Enhancers	HUVEC	blood vessel
17	chr22:32531800-32533000	Enhancers	Left Ventricle	heart
18	chr22:32532000-32532400	Enhancers	Dnd41	blood
19	chr22:32532000-32532600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr22:32532200-32532600	Enhancers	Stomach Mucosa	stomach
21	chr22:32532200-32533000	Weak transcription	Spleen	Spleen
22	chr22:32532200-32534000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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