Variant report

Variant	rs11940338
Chromosome Location	chr4:127619287-127619288
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	chr4:127618713..127621051-chr4:127622381..127624400,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10019530	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs10033505	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs11935158	0.81[AMR][1000 genomes]
rs11944598	0.81[AMR][1000 genomes]
rs1808037	0.81[AMR][1000 genomes]
rs28410886	0.94[AFR][1000 genomes]
rs28415381	1.00[AFR][1000 genomes]
rs28707018	0.93[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs28775994	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs4623016	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs55890724	0.81[AMR][1000 genomes]
rs6849105	0.81[AMR][1000 genomes]
rs6851103	0.96[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs73846055	0.81[AMR][1000 genomes]
rs73846060	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs9995088	0.81[AMR][1000 genomes]
rs9999892	0.86[AFR][1000 genomes];0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012833	chr4:127468474-127760933	Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv537242	chr4:127468474-127760933	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv524850	chr4:127470903-127768849	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1013854	chr4:127508969-127663216	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
5	nsv1009499	chr4:127532856-127659010	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv537243	chr4:127532856-127659010	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv1007477	chr4:127561735-127726291	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv537244	chr4:127561735-127726291	Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv2752024	chr4:127584697-127671942	Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
10	nsv595386	chr4:127597069-127668828	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv1028609	chr4:127597319-127664629	Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:127611200-127622800	Weak transcription	Fetal Lung	lung
2	chr4:127612600-127623800	Weak transcription	K562	blood
3	chr4:127616600-127623000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr4:127617800-127619600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr4:127617800-127619600	Enhancers	NHDF-Ad	bronchial
6	chr4:127617800-127619800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr4:127618000-127619600	Enhancers	HUVEC	blood vessel
8	chr4:127618000-127619800	Enhancers	NHEK	skin
9	chr4:127618200-127619600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr4:127618200-127619600	Enhancers	HMEC	breast
11	chr4:127618200-127619800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr4:127618600-127619600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr4:127618600-127619600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr4:127618800-127619600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr4:127618800-127619600	Enhancers	Muscle Satellite Cultured Cells	--
16	chr4:127618800-127619600	Enhancers	NH-A	brain
17	chr4:127618800-127619600	Enhancers	NHLF	lung
18	chr4:127619000-127619600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr4:127619200-127619600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr4:127619200-127619600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr4:127619200-127619600	Enhancers	Osteobl	bone

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