Variant report

Variant	rs1435520
Chromosome Location	chr4:74845417-74845418
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:74844333..74846999-chr4:74847682..74849224,2	K562	blood:

Variant related genes	Relation type
ENSG00000163737	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10518117	1.00[CEU][hapmap]
rs11508014	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11574452	1.00[CEU][hapmap]
rs13136948	0.81[JPT][hapmap]
rs1429637	0.85[AMR][1000 genomes]
rs1435521	0.81[JPT][hapmap]
rs1511815	1.00[CEU][hapmap]
rs16850360	0.85[CEU][hapmap]
rs1951233	1.00[CEU][hapmap]
rs1957069	1.00[CEU][hapmap]
rs2145614	0.85[CEU][hapmap]
rs2180883	0.85[CEU][hapmap]
rs2195543	0.81[AMR][1000 genomes]
rs3111693	0.85[CEU][hapmap]
rs3117602	0.85[CEU][hapmap]
rs353042	1.00[CEU][hapmap]
rs3756074	1.00[CEU][hapmap]
rs4082827	0.85[AMR][1000 genomes]
rs6813952	0.87[CEU][hapmap];0.94[CHB][hapmap];0.86[JPT][hapmap];0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs72855280	0.81[ASN][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	nsv1001725	chr4:74354050-74860924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	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
3	nsv1004768	chr4:74774372-75109579	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv1006218	chr4:74782324-75105424	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv1006029	chr4:74793922-74986664	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:74837000-74850800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr4:74842000-74845600	Enhancers	Osteobl	bone
3	chr4:74842200-74845600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr4:74842200-74845600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr4:74842200-74847200	Enhancers	Muscle Satellite Cultured Cells	--
6	chr4:74842200-74847200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr4:74842400-74845800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr4:74842400-74845800	Enhancers	NH-A	brain
9	chr4:74842600-74846200	Enhancers	HSMM	muscle
10	chr4:74843600-74847400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr4:74843800-74846800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr4:74843800-74847400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr4:74844000-74845600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr4:74844000-74845600	Enhancers	A549	lung
15	chr4:74844200-74845600	Enhancers	HMEC	breast
16	chr4:74844400-74845600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr4:74844600-74845600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr4:74844600-74846000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr4:74844800-74845600	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr4:74844800-74845600	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr4:74844800-74845600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr4:74844800-74845600	Enhancers	Fetal Intestine Large	intestine
23	chr4:74844800-74845600	Enhancers	Gastric	stomach
24	chr4:74844800-74845600	Enhancers	K562	blood
25	chr4:74844800-74846000	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr4:74844800-74846000	Enhancers	HSMMtube	muscle
27	chr4:74844800-74846200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr4:74844800-74846400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr4:74845000-74845600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr4:74845000-74845800	Weak transcription	Aorta	Aorta
31	chr4:74845200-74845600	Enhancers	NHLF	lung
32	chr4:74845200-74847400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr4:74845200-74850600	Weak transcription	NHDF-Ad	bronchial
34	chr4:74845400-74846000	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr4:74845400-74847200	Weak transcription	NHEK	skin
36	chr4:74845400-74847400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr4:74845400-74853400	Weak transcription	Primary hematopoietic stem cells short term culture	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links