Variant report

Variant	rs4617737
Chromosome Location	chr13:50216401-50216402
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:222885967..222886964-chr13:50215968..50216705,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000162819	Chromatin interaction
ENSG00000186063	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs7140087	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047311	chr13:49895019-50224227	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv916093	chr13:50050919-50290245	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS 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 miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1054965	chr13:50102730-50251347	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv541771	chr13:50102730-50251347	Enhancers Active TSS Genic enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv900071	chr13:50107289-50286218	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv1043697	chr13:50129199-50249241	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	esv2752657	chr13:50144995-50244150	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50202800-50233600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr13:50210400-50219600	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr13:50210400-50219600	Weak transcription	Fetal Thymus	thymus
4	chr13:50210400-50219800	Weak transcription	Primary T cells from cord blood	blood
5	chr13:50210400-50224000	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr13:50210600-50219600	Weak transcription	Dnd41	blood
7	chr13:50210600-50229800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr13:50210600-50241000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr13:50212600-50217800	Weak transcription	HepG2	liver
10	chr13:50215000-50217600	Enhancers	Lung	lung
11	chr13:50215200-50217600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr13:50215200-50218000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
13	chr13:50215400-50216600	Enhancers	Placenta	Placenta
14	chr13:50215400-50216800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr13:50215400-50217000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr13:50215400-50217200	Enhancers	Primary hematopoietic stem cells	blood
17	chr13:50215400-50217800	Enhancers	K562	blood
18	chr13:50215600-50216800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr13:50215600-50216800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr13:50215600-50217000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr13:50215600-50217000	Enhancers	Spleen	Spleen
22	chr13:50215600-50217000	Enhancers	NHEK	skin
23	chr13:50215800-50216600	Enhancers	Muscle Satellite Cultured Cells	--
24	chr13:50215800-50216600	Enhancers	NHDF-Ad	bronchial
25	chr13:50215800-50217000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr13:50215800-50217000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr13:50215800-50217000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr13:50215800-50217600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr13:50216000-50216600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr13:50216000-50216600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr13:50216000-50216600	Enhancers	Fetal Heart	heart
32	chr13:50216000-50217000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr13:50216200-50217400	Enhancers	Primary B cells from peripheral blood	blood
34	chr13:50216200-50218000	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr13:50216400-50216600	Weak transcription	Left Ventricle	heart
36	chr13:50216400-50216600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
37	chr13:50216400-50216800	Active TSS	Primary monocytes fromperipheralblood	blood
38	chr13:50216400-50216800	Enhancers	Primary B cells from cord blood	blood
39	chr13:50216400-50216800	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr13:50216400-50217200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr13:50216400-50217600	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr13:50216400-50217600	Enhancers	Hela-S3	cervix
43	chr13:50216400-50219600	Weak transcription	HUVEC	blood vessel
44	chr13:50216400-50224000	Weak transcription	Fetal Muscle Leg	muscle

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