Variant report

Variant	rs34143330
Chromosome Location	chr7:120818440-120818441
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: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11979342	0.92[EUR][1000 genomes]
rs11981613	0.97[EUR][1000 genomes]
rs11983939	0.93[EUR][1000 genomes]
rs12706322	0.81[EUR][1000 genomes]
rs13228215	0.81[EUR][1000 genomes]
rs13229558	0.81[EUR][1000 genomes]
rs13233295	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13235373	0.92[EUR][1000 genomes]
rs13238393	0.81[EUR][1000 genomes]
rs1357757	0.81[EUR][1000 genomes]
rs1404267	0.99[EUR][1000 genomes]
rs17143194	0.99[EUR][1000 genomes]
rs17283542	0.92[EUR][1000 genomes]
rs2402561	0.95[EUR][1000 genomes]
rs34269514	0.92[EUR][1000 genomes]
rs34362455	0.92[EUR][1000 genomes]
rs34385410	0.92[EUR][1000 genomes]
rs34638154	0.92[EUR][1000 genomes]
rs35370706	0.91[EUR][1000 genomes]
rs35411566	0.99[EUR][1000 genomes]
rs4144090	0.95[EUR][1000 genomes]
rs4593468	0.95[EUR][1000 genomes]
rs66520565	0.81[EUR][1000 genomes]
rs6976513	0.80[EUR][1000 genomes]
rs73433997	0.93[EUR][1000 genomes]
rs73436037	0.99[EUR][1000 genomes]
rs759157	0.80[EUR][1000 genomes]
rs7790569	0.80[EUR][1000 genomes]
rs798940	0.84[EUR][1000 genomes]
rs798942	0.80[EUR][1000 genomes]
rs798944	0.87[EUR][1000 genomes]
rs798945	0.81[EUR][1000 genomes]
rs798947	0.87[EUR][1000 genomes]
rs798948	0.87[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:17 , 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	chr7:120812000-120818800	Strong transcription	K562	blood
9	chr7:120815400-120818800	Weak transcription	Right Atrium	heart
10	chr7:120816000-120818800	Weak transcription	Ovary	ovary
11	chr7:120817000-120819200	Strong transcription	HSMM	muscle
12	chr7:120817000-120819400	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr7:120817000-120820000	Enhancers	Primary B cells from cord blood	blood
14	chr7:120817000-120825200	Enhancers	Primary B cells from peripheral blood	blood
15	chr7:120817800-120818800	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr7:120818400-120819000	Enhancers	Aorta	Aorta
17	chr7:120818400-120819400	Enhancers	Psoas Muscle	Psoas

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links