Variant report

Variant	rs7698045
Chromosome Location	chr4:48240043-48240044
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:48238892..48241068-chr4:48247777..48249287,2	K562	blood:
2	chr4:48227365..48229735-chr4:48239448..48242310,2	K562	blood:
3	chr4:48222033..48225544-chr4:48235946..48240353,4	K562	blood:
4	chr4:48238606..48240406-chr4:48242704..48244753,3	K562	blood:
5	chr4:48238807..48240507-chr4:48244867..48247720,2	K562	blood:
6	chr4:48206028..48209307-chr4:48238256..48241207,3	K562	blood:
7	chr4:48239378..48241079-chr4:48271387..48273021,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135605	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs12504870	0.83[CEU][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12507853	0.94[CEU][hapmap];0.89[GIH][hapmap];0.96[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13103259	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13104355	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13120599	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13121247	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13125176	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];0.82[MEX][hapmap];0.96[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1355218	0.94[CEU][hapmap];0.89[GIH][hapmap];0.96[TSI][hapmap];0.98[EUR][1000 genomes]
rs17471308	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17471321	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17574806	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17574819	0.94[CEU][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17574847	1.00[CEU][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2352597	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2457412	0.94[CEU][hapmap];0.98[EUR][1000 genomes]
rs2664021	0.88[CEU][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2664030	0.94[CEU][hapmap];0.98[EUR][1000 genomes]
rs2704391	0.94[CEU][hapmap];0.98[EUR][1000 genomes]
rs2704394	0.98[EUR][1000 genomes]
rs2704403	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2704404	1.00[CEU][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2704412	0.98[EUR][1000 genomes]
rs34292660	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34712902	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35912788	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35920857	0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs36103122	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4694891	0.88[CEU][hapmap];0.87[EUR][1000 genomes]
rs55657817	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60092950	0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6826144	0.84[ASW][hapmap];1.00[CEU][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.92[MKK][hapmap];0.96[TSI][hapmap];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6850058	1.00[CEU][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73246007	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73817608	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7658983	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7659013	0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7663382	0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7669018	0.94[CEU][hapmap];0.82[GIH][hapmap];0.91[MEX][hapmap];0.96[TSI][hapmap];0.98[EUR][1000 genomes]
rs7678247	0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7678843	0.84[ASW][hapmap];1.00[CEU][hapmap];0.93[GIH][hapmap];0.81[LWK][hapmap];0.92[MKK][hapmap];0.96[TSI][hapmap];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9996158	0.94[CEU][hapmap];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3447039	chr4:47822266-48285222	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv482316	chr4:48151953-48338746	Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	esv2763359	chr4:48189710-48290233	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
4	nsv1006610	chr4:48209294-48415387	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv537085	chr4:48209294-48415387	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 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	chr4:48220400-48242200	Weak transcription	Aorta	Aorta
2	chr4:48230000-48245600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr4:48237000-48246200	Weak transcription	Primary B cells from cord blood	blood
4	chr4:48237200-48240200	Weak transcription	Stomach Mucosa	stomach
5	chr4:48239200-48246600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr4:48239400-48241000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr4:48239600-48240200	Enhancers	Hela-S3	cervix
8	chr4:48239600-48241000	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr4:48239800-48240400	Enhancers	Pancreatic Islets	Pancreatic Islet
10	chr4:48239800-48240600	Flanking Active TSS	Primary hematopoietic stem cells	blood
11	chr4:48239800-48240600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
12	chr4:48239800-48240600	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr4:48239800-48241000	Enhancers	K562	blood
14	chr4:48239800-48241600	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr4:48240000-48240400	Enhancers	HUVEC	blood vessel
16	chr4:48240000-48240600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr4:48240000-48240600	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr4:48240000-48240600	Enhancers	NHEK	skin

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