Variant report

Variant	rs6686621
Chromosome Location	chr1:154293925-154293926
allele	A/T
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	GATA1	chr1:154293205-154293929	PBDE	blood:	n/a	chr1:154293796-154293817 chr1:154293800-154293810 chr1:154293539-154293546 chr1:154293803-154293812 chr1:154293802-154293812 chr1:154293539-154293548 chr1:154293803-154293810 chr1:154293538-154293548
2	TBL1XR1	chr1:154293297-154293979	K562	blood:	n/a	n/a
3	GATA1	chr1:154293190-154294125	K562	blood:	n/a	chr1:154293796-154293817 chr1:154293800-154293810 chr1:154293539-154293546 chr1:154293803-154293812 chr1:154293802-154293812 chr1:154293539-154293548 chr1:154293803-154293810 chr1:154293538-154293548
4	JUN	chr1:154293089-154293925	K562	blood:	n/a	n/a
5	MXI1	chr1:154293115-154293973	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:154293042..154295327-chr1:154297413..154299149,2	MCF-7	breast:
2	chr1:154243817..154246754-chr1:154291993..154294660,2	K562	blood:
3	chr1:154192079..154194850-chr1:154292071..154294843,2	K562	blood:

Variant related genes	Relation type
ATP8B2	TF binding region
ENSG00000143575	Chromatin interaction
ENSG00000143569	Chromatin interaction
ENSG00000143515	Chromatin interaction
ENSG00000143612	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs11265594	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12058332	0.88[EUR][1000 genomes]
rs12063437	0.88[EUR][1000 genomes]
rs12066892	0.88[EUR][1000 genomes]
rs12068128	0.90[EUR][1000 genomes]
rs12729561	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12749618	0.90[EUR][1000 genomes]
rs16865579	0.86[EUR][1000 genomes]
rs1889316	0.86[EUR][1000 genomes]
rs1931299	0.87[ASN][1000 genomes]
rs1948143	0.89[EUR][1000 genomes]
rs28410194	0.86[EUR][1000 genomes]
rs28530583	0.86[EUR][1000 genomes]
rs34640592	0.94[ASN][1000 genomes]
rs34749203	0.86[EUR][1000 genomes]
rs34880256	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34968830	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35091500	0.84[EUR][1000 genomes]
rs35112510	0.85[EUR][1000 genomes]
rs35229198	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35362987	0.94[ASN][1000 genomes]
rs35387092	0.98[ASN][1000 genomes]
rs35629421	0.86[EUR][1000 genomes]
rs35800693	0.94[ASN][1000 genomes]
rs3811451	0.86[EUR][1000 genomes]
rs3811452	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3916566	0.94[ASN][1000 genomes]
rs4304577	0.86[EUR][1000 genomes]
rs4406622	0.86[EUR][1000 genomes]
rs4414034	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4622059	0.88[EUR][1000 genomes]
rs56023096	0.92[EUR][1000 genomes]
rs56367957	0.94[ASN][1000 genomes]
rs61578738	0.93[ASN][1000 genomes]
rs61803412	0.86[EUR][1000 genomes]
rs61803414	0.86[EUR][1000 genomes]
rs6427560	0.98[ASN][1000 genomes]
rs6427561	0.98[ASN][1000 genomes]
rs6662855	0.87[EUR][1000 genomes]
rs6662976	0.89[EUR][1000 genomes]
rs6663105	0.86[EUR][1000 genomes]
rs6667225	0.88[EUR][1000 genomes]
rs6672627	0.88[EUR][1000 genomes]
rs6690468	0.86[EUR][1000 genomes]
rs6701309	0.88[EUR][1000 genomes]
rs68031662	0.88[EUR][1000 genomes]
rs749966	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7511806	0.83[EUR][1000 genomes]
rs7518394	0.84[EUR][1000 genomes]
rs7523399	0.88[EUR][1000 genomes]
rs7530735	0.88[EUR][1000 genomes]
rs7530868	0.88[EUR][1000 genomes]
rs7547298	0.94[ASN][1000 genomes]
rs7552370	0.88[EUR][1000 genomes]
rs9728024	0.82[EUR][1000 genomes]
rs9787014	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]

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	nsv999364	chr1:153622634-154419436	Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
2	nsv535175	chr1:153622634-154419436	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
3	esv1830240	chr1:153885261-154370938	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	239 gene(s)	inside rSNPs	diseases
4	nsv948413	chr1:153974621-154797272	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
5	nsv1000402	chr1:153991106-154527053	Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
6	esv3451054	chr1:154182013-154360141	Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
7	nsv521887	chr1:154236570-154684106	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
8	nsv946406	chr1:154284237-154294738	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
9	esv3324060	chr1:154285512-154294340	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154290400-154297000	Weak transcription	Thymus	Thymus
2	chr1:154293000-154294000	Enhancers	Fetal Heart	heart
3	chr1:154293000-154294000	Enhancers	Stomach Mucosa	stomach
4	chr1:154293000-154294800	Enhancers	Fetal Intestine Large	intestine
5	chr1:154293200-154294000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:154293200-154294800	Enhancers	Duodenum Mucosa	Duodenum
7	chr1:154293600-154294000	Active TSS	Fetal Intestine Small	intestine
8	chr1:154293600-154294400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:154293600-154297000	Weak transcription	Primary hematopoietic stem cells	blood
10	chr1:154293600-154297200	Weak transcription	Gastric	stomach
11	chr1:154293800-154294000	Active TSS	HepG2	liver
12	chr1:154293800-154294000	Enhancers	NHEK	skin
13	chr1:154293800-154294200	Active TSS	K562	blood
14	chr1:154293800-154294600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr1:154293800-154296800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr1:154293800-154296800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:154293800-154297000	Weak transcription	Right Ventricle	heart
18	chr1:154293800-154297000	Weak transcription	Spleen	Spleen
19	chr1:154293800-154297200	Weak transcription	Left Ventricle	heart
20	chr1:154293800-154297200	Weak transcription	Pancreas	Pancrea
21	chr1:154293800-154297200	Weak transcription	Right Atrium	heart

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