Variant report

Variant	rs28434222
Chromosome Location	chr4:75187174-75187175
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:75185069..75187817-chr4:75594549..75599298,4	MCF-7	breast:
2	chr4:75186018..75191874-chr4:75238287..75242590,7	MCF-7	breast:
3	chr4:75184279..75188446-chr4:75594088..75602141,9	MCF-7	breast:
4	chr4:75186497..75188318-chr4:75583460..75585196,2	MCF-7	breast:
5	chr4:75184788..75188448-chr4:75240732..75243292,5	MCF-7	breast:
6	chr4:75184159..75187825-chr4:75548477..75550130,4	MCF-7	breast:
7	chr4:75184705..75187953-chr4:75546623..75549644,3	MCF-7	breast:
8	chr4:75186686..75187404-chr4:75397297..75397816,2	MCF-7	breast:
9	chr4:75186464..75188269-chr4:75229641..75231728,2	MCF-7	breast:
10	chr4:75186278..75187949-chr4:75345277..75348029,2	MCF-7	breast:
11	chr4:75186306..75189652-chr4:75595987..75599313,3	K562	blood:
12	chr4:75186354..75188537-chr4:75543552..75545895,3	MCF-7	breast:
13	chr4:75185456..75188448-chr4:75321032..75323614,2	MCF-7	breast:
14	chr4:75186738..75189325-chr4:75585429..75588051,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000124882	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10006685	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10011730	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10014791	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10015148	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1246576	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1246583	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1246589	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1246592	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1246593	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1246595	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1246596	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1460004	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1542468	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16850833	0.84[EUR][1000 genomes]
rs16850864	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16850866	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16850885	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16850889	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16850892	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16850898	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16850899	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16850903	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16850918	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16850929	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16850939	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2611754	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28382340	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28417935	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28423375	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28462312	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28588511	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28663170	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs28721942	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28788278	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs492042	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56667969	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs572987	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6821364	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6845763	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7656041	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7656313	0.90[ASN][1000 genomes]
rs7665228	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7670644	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7689369	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7694828	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7697394	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9683437	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9884572	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9884653	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9992624	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9993008	0.84[EUR][1000 genomes];0.93[ASN][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:20 , 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	chr4:75185200-75187600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr4:75185400-75187600	Enhancers	HMEC	breast
4	chr4:75185800-75188000	Enhancers	Primary hematopoietic stem cells	blood
5	chr4:75186000-75192000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr4:75186400-75187600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr4:75186400-75187600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:75186600-75189200	Enhancers	K562	blood
9	chr4:75186800-75187600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr4:75186800-75187600	Enhancers	NHEK	skin
11	chr4:75186800-75189000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr4:75186800-75189000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr4:75186800-75189600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr4:75187000-75187200	Enhancers	A549	lung
15	chr4:75187000-75187400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr4:75187000-75189200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr4:75187000-75189200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr4:75187000-75189400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr4:75187000-75189600	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr4:75187000-75192800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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