Variant report

Variant	rs1204951
Chromosome Location	chr6:4091400-4091401
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	NFYB	chr6:4090752-4091455	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:4091213..4093295-chr6:4098228..4099791,2	K562	blood:
2	chr6:4082801..4085618-chr6:4088964..4091515,2	MCF-7	breast:

Variant related genes	Relation type
FAM217A	TF binding region

Extended variants
information (count: 101 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs101418	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11755877	0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs2326408	0.92[ASN][1000 genomes]
rs2473597	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2745453	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2745455	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2783063	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2783073	0.92[ASN][1000 genomes]
rs28878015	0.84[ASN][1000 genomes]
rs4959271	0.83[ASN][1000 genomes]
rs582008	0.84[ASN][1000 genomes]
rs583782	0.84[ASN][1000 genomes]
rs583881	0.84[ASN][1000 genomes]
rs584585	0.92[ASN][1000 genomes]
rs588158	0.85[ASN][1000 genomes]
rs589494	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs590675	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs592953	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs593291	0.91[ASN][1000 genomes]
rs594662	0.92[ASN][1000 genomes]
rs595413	0.92[ASN][1000 genomes]
rs608195	0.99[ASN][1000 genomes]
rs609946	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs611500	0.92[ASN][1000 genomes]
rs612022	0.92[ASN][1000 genomes]
rs612477	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs613028	0.93[ASN][1000 genomes]
rs613260	0.92[ASN][1000 genomes]
rs613709	0.92[ASN][1000 genomes]
rs617604	0.98[ASN][1000 genomes]
rs617790	0.92[ASN][1000 genomes]
rs619439	0.92[ASN][1000 genomes]
rs619483	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs619873	0.92[ASN][1000 genomes]
rs620484	0.92[ASN][1000 genomes]
rs620901	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs621205	0.84[ASN][1000 genomes]
rs626080	0.93[ASN][1000 genomes]
rs627259	0.99[ASN][1000 genomes]
rs629362	0.92[ASN][1000 genomes]
rs633290	0.92[ASN][1000 genomes]
rs634114	0.85[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs634698	0.92[ASN][1000 genomes]
rs634970	0.84[ASN][1000 genomes]
rs638329	0.84[ASN][1000 genomes]
rs639905	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs643232	0.92[ASN][1000 genomes]
rs646385	0.84[ASN][1000 genomes]
rs648900	0.92[ASN][1000 genomes]
rs649725	0.92[ASN][1000 genomes]
rs650183	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs651246	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs653431	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs654621	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs654982	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs659025	0.92[ASN][1000 genomes]
rs659051	0.84[ASN][1000 genomes]
rs659305	0.92[ASN][1000 genomes]
rs660560	0.92[ASN][1000 genomes]
rs660957	0.84[ASN][1000 genomes]
rs661404	0.92[ASN][1000 genomes]
rs661657	1.00[ASN][1000 genomes]
rs662834	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs664299	0.90[ASN][1000 genomes]
rs664635	0.84[ASN][1000 genomes]
rs664839	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs664898	0.84[ASN][1000 genomes]
rs665728	0.93[ASN][1000 genomes]
rs665894	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs666254	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs668070	0.96[ASN][1000 genomes]
rs670932	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs671364	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs674543	0.97[ASN][1000 genomes]
rs676683	0.92[ASN][1000 genomes]
rs678285	0.84[ASN][1000 genomes]
rs679303	0.84[ASN][1000 genomes]
rs682063	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs688176	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs689308	0.92[ASN][1000 genomes]
rs694058	0.84[ASN][1000 genomes]
rs694903	0.99[ASN][1000 genomes]
rs707991	0.97[ASN][1000 genomes]
rs7166	0.92[ASN][1000 genomes]
rs7744628	0.92[ASN][1000 genomes]
rs7756630	0.88[ASN][1000 genomes]
rs7757606	0.92[ASN][1000 genomes]
rs853416	0.92[ASN][1000 genomes]
rs853417	0.92[ASN][1000 genomes]
rs853418	0.84[ASN][1000 genomes]
rs9328220	0.92[ASN][1000 genomes]
rs9378395	0.91[ASN][1000 genomes]
rs9405219	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs9405701	0.84[ASN][1000 genomes]
rs942475	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532020	chr6:3417520-4140257	Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1022968	chr6:3862744-4272502	Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv538106	chr6:3862744-4272502	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv462615	chr6:4052383-4096678	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv600860	chr6:4052383-4096678	Strong transcription Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv1030104	chr6:4062894-4240269	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4079400-4092000	Weak transcription	Right Atrium	heart
2	chr6:4088800-4091400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr6:4089400-4091600	Weak transcription	Duodenum Mucosa	Duodenum
4	chr6:4089400-4092400	Weak transcription	Pancreas	Pancrea
5	chr6:4089600-4091600	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr6:4089800-4091400	Weak transcription	HepG2	liver
7	chr6:4089800-4091600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr6:4089800-4092200	Weak transcription	Stomach Mucosa	stomach
9	chr6:4089800-4092800	Weak transcription	Colonic Mucosa	Colon
10	chr6:4090000-4093400	Weak transcription	Fetal Heart	heart
11	chr6:4090600-4092800	Enhancers	Fetal Intestine Small	intestine
12	chr6:4090800-4103000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr6:4091200-4093400	Enhancers	Fetal Intestine Large	intestine
14	chr6:4091400-4092200	Enhancers	Sigmoid Colon	Sigmoid Colon
15	chr6:4091400-4092800	Enhancers	HepG2	liver

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