Variant report

Variant	rs4386626
Chromosome Location	chr4:80130978-80130979
allele	C/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	JUN	chr4:80130811-80135599	K562	blood:	n/a	chr4:80133097-80133109 chr4:80132960-80132969 chr4:80134699-80134708 chr4:80134698-80134707 chr4:80135002-80135011 chr4:80134699-80134706 chr4:80132279-80132287 chr4:80133099-80133107 chr4:80135001-80135014 chr4:80134699-80134707 chr4:80133040-80133048
2	MAX	chr4:80130948-80131699	K562	blood:	n/a	n/a
3	POLR2A	chr4:80130962-80133213	K562	blood:	n/a	n/a
4	TBL1XR1	chr4:80130962-80133750	K562	blood:	n/a	n/a
5	POLR2A	chr4:80130901-80133836	K562	blood:	n/a	n/a
6	CBX3	chr4:80130824-80131786	K562	blood:	n/a	n/a
7	NR2F2	chr4:80130893-80132138	K562	blood:	n/a	n/a
8	TEAD4	chr4:80130873-80131957	K562	blood:	n/a	n/a
9	POLR2A	chr4:80130803-80131739	HL-60	blood:	n/a	n/a
10	EP300	chr4:80130949-80132223	K562	blood:	n/a	chr4:80131914-80131928
11	KAP1	chr4:80130958-80131806	U2OS	brain:	n/a	n/a
12	BHLHE40	chr4:80130883-80131688	K562	blood:	n/a	n/a
13	POLR2A	chr4:80130400-80133261	NB4	blood:	n/a	n/a
14	SETDB1	chr4:80130862-80132281	U2OS	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:80122838..80125677-chr4:80129112..80131710,3	K562	blood:
2	chr4:80130888..80132552-chr4:80164222..80166860,2	K562	blood:
3	chr4:80129511..80131347-chr4:80133541..80135090,2	K562	blood:
4	chr4:80130065..80132388-chr4:80165360..80168173,2	K562	blood:
5	chr4:80127482..80129518-chr4:80129789..80131371,2	K562	blood:

Variant related genes	Relation type
LINC01088	TF binding region

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs10013555	0.93[ASN][1000 genomes]
rs10032360	0.95[ASN][1000 genomes]
rs10032363	0.95[ASN][1000 genomes]
rs1026394	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1080690	0.89[ASN][1000 genomes]
rs11098588	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11098595	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11098603	0.95[ASN][1000 genomes]
rs11098609	0.83[ASN][1000 genomes]
rs11732616	0.95[ASN][1000 genomes]
rs11735553	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12502459	0.95[ASN][1000 genomes]
rs12504676	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12643994	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12644018	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12648205	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12650537	0.89[ASN][1000 genomes]
rs13143413	0.93[ASN][1000 genomes]
rs13145326	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1385055	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1455313	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1840480	0.91[ASN][1000 genomes]
rs1955232	0.89[ASN][1000 genomes]
rs28528138	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4246718	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4302482	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4385093	0.95[ASN][1000 genomes]
rs4425403	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4470657	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4502706	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4519821	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4527507	0.89[ASN][1000 genomes]
rs4535355	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4535356	0.91[ASN][1000 genomes]
rs4571359	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4571360	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4639097	0.85[ASN][1000 genomes]
rs4975079	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4975080	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4975166	0.93[ASN][1000 genomes]
rs4975171	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4975172	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4975173	0.95[ASN][1000 genomes]
rs4988619	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56008448	0.89[ASN][1000 genomes]
rs56205707	0.84[ASN][1000 genomes]
rs58479998	0.93[ASN][1000 genomes]
rs6534217	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6534218	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6534222	0.90[ASN][1000 genomes]
rs6534253	0.95[ASN][1000 genomes]
rs6810580	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6826553	0.89[ASN][1000 genomes]
rs6826564	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6827253	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6832917	0.95[ASN][1000 genomes]
rs6837864	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6853034	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6855921	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72870807	0.84[ASN][1000 genomes]
rs72870815	0.84[ASN][1000 genomes]
rs72870819	0.84[ASN][1000 genomes]
rs7656444	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7659766	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7667438	0.95[ASN][1000 genomes]
rs7673022	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7676343	0.93[ASN][1000 genomes]
rs7679438	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7694880	0.95[ASN][1000 genomes]
rs7695330	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9307489	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9715410	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9993157	0.89[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	nsv1000907	chr4:79838948-80224764	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv879505	chr4:79887043-80293046	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1014428	chr4:80089712-80132813	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:80129400-80135000	Weak transcription	Aorta	Aorta
2	chr4:80129600-80133000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr4:80130200-80131000	Enhancers	K562	blood
4	chr4:80130200-80131800	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr4:80130200-80132200	Enhancers	Primary hematopoietic stem cells	blood
6	chr4:80130400-80132800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr4:80130400-80133000	Enhancers	Hela-S3	cervix
8	chr4:80130600-80131600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr4:80130600-80138000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr4:80130800-80131800	Enhancers	Dnd41	blood
11	chr4:80130800-80133000	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr4:80130800-80133200	Enhancers	Fetal Brain Male	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links