Variant report

Variant	rs6713406
Chromosome Location	chr2:10160002-10160003
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	MAX	chr2:10159867-10160075	K562	blood:	n/a	chr2:10159974-10159981
2	MYC	chr2:10159803-10160385	K562	blood:	n/a	chr2:10160315-10160326 chr2:10160314-10160329 chr2:10159974-10159981 chr2:10160314-10160327 chr2:10160315-10160324 chr2:10160316-10160326 chr2:10160315-10160326 chr2:10160316-10160326 chr2:10160315-10160325 chr2:10160316-10160325
3	USF1	chr2:10159753-10160040	K562	blood:	n/a	n/a
4	RCOR1	chr2:10159839-10160118	K562	blood:	n/a	n/a
5	MYC	chr2:10159896-10160118	K562	blood:	n/a	chr2:10159974-10159981
6	MYC	chr2:10159980-10160004	K562	blood:	n/a	n/a
7	TEAD4	chr2:10159828-10160159	K562	blood:	n/a	n/a
8	E2F6	chr2:10159808-10160052	K562	blood:	n/a	n/a
9	MAX	chr2:10159882-10160139	NB4	blood:	n/a	chr2:10159974-10159981
10	MAX	chr2:10159871-10160205	K562	blood:	n/a	chr2:10159974-10159981
11	MAX	chr2:10159562-10160418	K562	blood:	n/a	chr2:10160315-10160326 chr2:10160314-10160329 chr2:10159974-10159981 chr2:10160314-10160327 chr2:10160315-10160324 chr2:10160316-10160326 chr2:10160315-10160326 chr2:10160316-10160326 chr2:10160315-10160325 chr2:10160316-10160325
12	JUN	chr2:10159993-10160161	K562	blood:	n/a	n/a
13	YY1	chr2:10159855-10160164	K562	blood:	n/a	chr2:10160101-10160123 chr2:10160112-10160120
14	SPI1	chr2:10159928-10160136	K562	blood:	n/a	chr2:10160081-10160090 chr2:10160082-10160089 chr2:10160018-10160025
15	E2F6	chr2:10159770-10160142	K562	blood:	n/a	n/a
16	BHLHE40	chr2:10159790-10160158	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:10159180..10160819-chr2:10275177..10277719,2	K562	blood:
2	chr2:10158217..10160856-chr2:10163800..10165547,2	K562	blood:
3	chr2:10159162..10163514-chr2:10181699..10184437,5	MCF-7	breast:
4	chr2:10158527..10161012-chr2:10168048..10171028,3	K562	blood:
5	chr2:10159210..10161560-chr2:10162271..10163980,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260476	TF binding region
ENSG00000172059	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10153772	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10803713	0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10803714	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10929627	0.86[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs10929628	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11686388	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs11897118	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12990274	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs13003448	0.87[AFR][1000 genomes]
rs13029882	0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs34241058	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4347794	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4464250	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55846340	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55873363	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6716186	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6756056	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011125	chr2:9996740-10293803	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
2	nsv1011689	chr2:10023891-10293803	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
3	nsv997334	chr2:10080327-10189279	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription 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	32 gene(s)	inside rSNPs	diseases
4	nsv828297	chr2:10109299-10236332	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
5	nsv1007965	chr2:10154960-10276125	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
6	nsv1014790	chr2:10156968-10274855	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
7	nsv999019	chr2:10157762-10273232	Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 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	chr2:10141600-10160200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:10156200-10160200	Enhancers	Adipose Nuclei	Adipose
3	chr2:10156200-10160400	Enhancers	Liver	Liver
4	chr2:10158200-10161000	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr2:10158600-10160200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr2:10159200-10160400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr2:10159200-10160800	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr2:10159200-10163400	Enhancers	Placenta	Placenta
9	chr2:10159400-10160200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr2:10159400-10160200	Enhancers	Spleen	Spleen
11	chr2:10159400-10160400	Enhancers	Gastric	stomach
12	chr2:10159400-10160400	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr2:10159400-10160800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr2:10159400-10161000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr2:10159600-10160200	Enhancers	K562	blood
16	chr2:10159600-10160800	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr2:10159800-10161800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:10159800-10167600	Weak transcription	Right Atrium	heart
19	chr2:10160000-10161600	Weak transcription	NHEK	skin
20	chr2:10160000-10161800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr2:10160000-10161800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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