Variant report

Variant	rs4971635
Chromosome Location	chr2:50250447-50250448
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	STAT3	chr2:50250389-50250706	MCF10A-Er-Src	breast:	n/a	chr2:50250577-50250585

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:50245424..50247273-chr2:50250002..50252375,2	K562	blood:

Variant related genes	Relation type
NRXN1	TF binding region
ENSG00000179915	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1035342	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12470829	0.84[CEU][hapmap]
rs12478797	0.85[CEU][hapmap];0.82[JPT][hapmap]
rs12713084	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12987268	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13013447	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1363036	0.93[CEU][hapmap];1.00[JPT][hapmap]
rs1369295	0.85[CEU][hapmap];0.82[JPT][hapmap]
rs1421567	0.85[CEU][hapmap];0.82[JPT][hapmap]
rs1421569	0.86[CHB][hapmap]
rs1421577	0.85[CEU][hapmap]
rs1421598	0.86[CEU][hapmap];0.86[CHB][hapmap]
rs1469003	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs1477248	0.85[CEU][hapmap]
rs1477249	0.85[CEU][hapmap];0.82[JPT][hapmap]
rs1541642	0.85[CEU][hapmap];0.82[JPT][hapmap]
rs1592728	0.91[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap]
rs1819972	0.87[ASN][1000 genomes]
rs1895130	0.91[ASN][1000 genomes]
rs1895131	0.91[ASN][1000 genomes]
rs2351149	0.82[CEU][hapmap];1.00[JPT][hapmap]
rs2351152	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2351153	0.89[ASN][1000 genomes]
rs2859977	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs4583505	1.00[CEU][hapmap];0.82[CHB][hapmap]
rs4971632	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs4971634	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4971636	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4971639	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4971640	0.91[ASN][1000 genomes]
rs6545137	0.85[CEU][hapmap];0.82[JPT][hapmap]
rs6545144	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs6545145	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6706484	0.85[CEU][hapmap];0.82[JPT][hapmap]
rs6706613	0.85[CEU][hapmap];0.82[JPT][hapmap]
rs6712956	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs6712970	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6714990	0.85[CEU][hapmap];0.82[JPT][hapmap]
rs6736816	0.92[ASN][1000 genomes]
rs6746395	0.87[EUR][1000 genomes]
rs6754803	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6761463	0.82[JPT][hapmap]
rs7596020	0.83[CEU][hapmap];0.82[JPT][hapmap]
rs7601845	0.91[ASN][1000 genomes]
rs930295	0.85[CEU][hapmap];1.00[JPT][hapmap]
rs9309173	0.91[ASN][1000 genomes]
rs9636391	0.82[JPT][hapmap]
rs980794	0.85[CEU][hapmap];1.00[JPT][hapmap]

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	esv3388948	chr2:50092667-50602681	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
2	esv3399511	chr2:50092687-50602651	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv934303	chr2:50145598-50412189	Bivalent Enhancer Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv581837	chr2:50230334-50268616	Weak transcription Flanking Active TSS Enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1011144	chr2:50231111-50270096	Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv915588	chr2:50235306-50268306	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv431002	chr2:50243349-50259749	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv1004550	chr2:50250335-50274067	Enhancers Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:50250000-50250800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr2:50250400-50252200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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