Variant report

Variant	rs16850933
Chromosome Location	chr4:75188304-75188305
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:75176225-75192444	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr4:75179495-75188621	MCF10A-Er-Src	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr4:75186018..75191874-chr4:75238287..75242590,7	MCF-7	breast:
2	chr4:75184279..75188446-chr4:75594088..75602141,9	MCF-7	breast:
3	chr4:75186497..75188318-chr4:75583460..75585196,2	MCF-7	breast:
4	chr4:75184788..75188448-chr4:75240732..75243292,5	MCF-7	breast:
5	chr4:75186306..75189652-chr4:75595987..75599313,3	K562	blood:
6	chr4:75186354..75188537-chr4:75543552..75545895,3	MCF-7	breast:
7	chr4:75185456..75188448-chr4:75321032..75323614,2	MCF-7	breast:
8	chr4:75186738..75189325-chr4:75585429..75588051,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000265720	TF binding region

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10518119	1.00[TSI][hapmap]
rs10938110	1.00[TSI][hapmap]
rs11947475	1.00[TSI][hapmap]
rs1460005	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16850793	1.00[EUR][1000 genomes]
rs16850798	0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs16850813	1.00[EUR][1000 genomes]
rs16850818	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16850842	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16850845	0.90[ASW][hapmap];0.97[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16850847	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16850852	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16850945	0.94[YRI][hapmap];0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1993664	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4694665	1.00[TSI][hapmap]
rs479117	1.00[TSI][hapmap]
rs522698	1.00[TSI][hapmap]
rs56192801	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57516973	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58215609	1.00[EUR][1000 genomes]
rs58398242	1.00[EUR][1000 genomes]
rs59142088	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59172186	1.00[EUR][1000 genomes]
rs59175703	1.00[EUR][1000 genomes]
rs60181583	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60560556	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61119489	1.00[EUR][1000 genomes]
rs6830535	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6836879	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs725142	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73824433	1.00[EUR][1000 genomes]
rs73824435	1.00[EUR][1000 genomes]
rs73824446	1.00[EUR][1000 genomes]
rs73824447	1.00[EUR][1000 genomes]
rs73824448	1.00[EUR][1000 genomes]
rs73824449	1.00[EUR][1000 genomes]
rs73824453	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73824457	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73824458	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73824469	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs922136	0.91[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9685225	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525980	chr4:74731526-75382209	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1009099	chr4:75089233-75726206	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:75175600-75189000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr4:75186000-75192000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr4:75186600-75189200	Enhancers	K562	blood
4	chr4:75186800-75189000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:75186800-75189000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr4:75186800-75189600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr4:75187000-75189200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr4:75187000-75189200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr4:75187000-75189400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr4:75187000-75189600	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr4:75187000-75192800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr4:75187600-75192400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr4:75187600-75192600	Weak transcription	NHEK	skin
14	chr4:75187600-75192800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr4:75187600-75192800	Weak transcription	HMEC	breast
16	chr4:75188000-75188400	Flanking Active TSS	Primary hematopoietic stem cells	blood
17	chr4:75188000-75190400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr4:75188200-75188400	Enhancers	A549	lung

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