Variant report

Variant	rs4730998
Chromosome Location	chr7:120819121-120819122
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:120800390..120802719-chr7:120816367..120819301,2	K562	blood:
2	chr7:120817633..120820415-chr7:120824937..120827209,2	K562	blood:

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10215148	0.81[CEU][hapmap];0.86[EUR][1000 genomes]
rs10215475	0.81[CEU][hapmap];0.86[EUR][1000 genomes]
rs10216123	0.92[CEU][hapmap];0.98[EUR][1000 genomes]
rs10228519	0.86[CEU][hapmap]
rs10231436	0.86[EUR][1000 genomes]
rs10235934	0.80[CEU][hapmap];0.86[EUR][1000 genomes]
rs10246521	0.82[CEU][hapmap];0.85[EUR][1000 genomes]
rs10246697	0.84[EUR][1000 genomes]
rs10248011	0.84[EUR][1000 genomes]
rs10251139	0.82[CEU][hapmap]
rs10251901	0.92[CEU][hapmap];0.88[CHB][hapmap];0.83[JPT][hapmap]
rs10259383	0.82[CEU][hapmap];0.84[EUR][1000 genomes]
rs10260858	0.84[EUR][1000 genomes]
rs10267203	0.84[EUR][1000 genomes]
rs10270233	0.85[EUR][1000 genomes]
rs10274486	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes]
rs10275938	0.84[EUR][1000 genomes]
rs10276224	0.87[EUR][1000 genomes]
rs1112208	0.82[CEU][hapmap];0.84[EUR][1000 genomes]
rs1125446	0.86[EUR][1000 genomes]
rs1125447	0.81[CEU][hapmap];0.86[EUR][1000 genomes]
rs11531545	0.85[CEU][hapmap];0.85[EUR][1000 genomes]
rs12112058	0.84[EUR][1000 genomes]
rs12706314	0.84[CEU][hapmap];0.84[EUR][1000 genomes]
rs1357755	0.81[CEU][hapmap];0.86[EUR][1000 genomes]
rs1524498	0.82[CEU][hapmap];0.80[EUR][1000 genomes]
rs1524500	0.83[EUR][1000 genomes]
rs1558541	0.81[CEU][hapmap];0.80[EUR][1000 genomes]
rs1608660	0.85[EUR][1000 genomes]
rs17283473	0.84[EUR][1000 genomes]
rs17537827	0.80[EUR][1000 genomes]
rs1917111	0.86[EUR][1000 genomes]
rs2037632	0.81[CEU][hapmap]
rs2056593	0.86[EUR][1000 genomes]
rs2056594	0.86[EUR][1000 genomes]
rs2177578	0.82[CEU][hapmap];0.84[EUR][1000 genomes]
rs2204338	0.86[EUR][1000 genomes]
rs2402559	0.85[EUR][1000 genomes]
rs2402560	0.81[CEU][hapmap];0.85[EUR][1000 genomes]
rs3779384	0.80[EUR][1000 genomes]
rs41281692	0.84[EUR][1000 genomes]
rs4730994	0.83[EUR][1000 genomes]
rs56335989	0.83[EUR][1000 genomes]
rs56895884	0.85[EUR][1000 genomes]
rs62468527	0.87[EUR][1000 genomes]
rs6968039	0.89[CEU][hapmap]
rs6971407	0.96[CEU][hapmap]
rs6972481	0.96[CEU][hapmap];0.92[JPT][hapmap];0.86[ASN][1000 genomes]
rs798949	0.81[CEU][hapmap];0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv608327	chr7:120633006-120873078	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1023611	chr7:120638930-120881658	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1025430	chr7:120638930-121179289	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv1030792	chr7:120662815-120917533	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1031282	chr7:120667937-120887301	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv539099	chr7:120667937-120887301	Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1019025	chr7:120667937-120918696	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv539100	chr7:120667937-120918696	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv534342	chr7:120667938-120887300	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv428506	chr7:120719434-120891759	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
11	nsv889121	chr7:120747228-120869464	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
12	nsv427802	chr7:120749159-120935856	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
13	nsv1034353	chr7:120818382-121040576	Enhancers Bivalent Enhancer Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 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	chr7:120782800-120822400	Weak transcription	HSMMtube	muscle
2	chr7:120783200-120822400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr7:120789800-120822400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr7:120789800-120828800	Weak transcription	Left Ventricle	heart
5	chr7:120798600-120836000	Weak transcription	Adipose Nuclei	Adipose
6	chr7:120804600-120822400	Weak transcription	NHDF-Ad	bronchial
7	chr7:120804600-120825800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr7:120817000-120819200	Strong transcription	HSMM	muscle
9	chr7:120817000-120819400	Enhancers	Skeletal Muscle Female	skeletal muscle
10	chr7:120817000-120820000	Enhancers	Primary B cells from cord blood	blood
11	chr7:120817000-120825200	Enhancers	Primary B cells from peripheral blood	blood
12	chr7:120818400-120819400	Enhancers	Psoas Muscle	Psoas
13	chr7:120818800-120819200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
14	chr7:120818800-120819200	Genic enhancers	K562	blood
15	chr7:120818800-120819400	Enhancers	Ovary	ovary
16	chr7:120818800-120819400	Enhancers	Right Atrium	heart
17	chr7:120818800-120819600	Enhancers	Rectal Smooth Muscle	rectum
18	chr7:120819000-120819400	Flanking Active TSS	Liver	Liver
19	chr7:120819000-120819400	Flanking Active TSS	GM12878-XiMat	blood
20	chr7:120819000-120822600	Weak transcription	Aorta	Aorta

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