Variant report

Variant	rs6986129
Chromosome Location	chr8:59461621-59461622
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	MAX	chr8:59461514-59461708	H1-hESC	embryonic stem cell:	n/a	n/a
2	REST	chr8:59461211-59461837	H1-neurons	neurons:	n/a	n/a
3	USF1	chr8:59461416-59461744	H1-hESC	embryonic stem cell:	n/a	n/a
4	TEAD4	chr8:59461548-59461796	H1-hESC	embryonic stem cell:	n/a	n/a
5	USF1	chr8:59461490-59461767	H1-hESC	embryonic stem cell:	n/a	n/a
6	REST	chr8:59461124-59462082	H1-neurons	neurons:	n/a	n/a
7	TEAD4	chr8:59461498-59461761	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr8:59461412-59461779	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:59460875..59463855-chr8:59467484..59470107,3	K562	blood:
2	chr8:59458844..59462751-chr8:59463851..59466473,5	MCF-7	breast:

Variant related genes	Relation type
SDCBP	TF binding region
ENSG00000137575	Chromatin interaction

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs10085973	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10090425	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10090964	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10092359	0.88[EUR][1000 genomes]
rs10094910	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10099153	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10099240	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10099912	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10100873	0.89[EUR][1000 genomes]
rs10102709	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10104292	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10106272	0.83[EUR][1000 genomes]
rs10110065	0.85[EUR][1000 genomes]
rs10110111	0.96[EUR][1000 genomes]
rs10111052	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10111506	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10113750	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10504256	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1050488	0.84[EUR][1000 genomes]
rs1050504	0.89[EUR][1000 genomes]
rs11774558	0.81[EUR][1000 genomes]
rs11775194	0.85[EUR][1000 genomes]
rs11776003	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11783174	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11785141	0.81[EUR][1000 genomes]
rs12335008	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12541539	0.80[ASN][1000 genomes]
rs12543344	0.80[ASN][1000 genomes]
rs12674568	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12676593	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12677290	0.83[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs12678669	0.88[EUR][1000 genomes]
rs12680104	0.95[EUR][1000 genomes]
rs12680996	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1582824	0.82[ASN][1000 genomes]
rs16923562	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16923564	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17263989	0.96[EUR][1000 genomes]
rs1976162	0.82[EUR][1000 genomes]
rs1991359	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2279460	0.81[EUR][1000 genomes]
rs2279462	0.82[EUR][1000 genomes]
rs28429491	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28650441	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28656336	0.90[EUR][1000 genomes]
rs28809811	0.83[EUR][1000 genomes]
rs3739327	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3808609	0.94[EUR][1000 genomes]
rs3816846	0.81[EUR][1000 genomes]
rs4282557	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4400366	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4400367	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4579515	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4738690	0.80[ASN][1000 genomes]
rs55774738	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56249776	0.81[EUR][1000 genomes]
rs59979442	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6471729	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6471731	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6981601	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6995115	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7009248	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7009374	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7011095	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7014398	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7016868	0.80[ASN][1000 genomes]
rs72647424	0.85[EUR][1000 genomes]
rs72647425	0.84[EUR][1000 genomes]
rs72647434	0.91[EUR][1000 genomes]
rs72647435	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7817515	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7825996	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7827910	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7840932	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7843989	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9297995	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9297996	0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9297997	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9297998	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9297999	0.90[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv890938	chr8:59355053-59809785	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:59440400-59465200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:59453000-59462200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr8:59456200-59465000	Weak transcription	Adipose Nuclei	Adipose
4	chr8:59458800-59465000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr8:59460600-59462400	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr8:59461000-59462200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr8:59461400-59465000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr8:59461600-59465000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links