Variant report

Variant	rs6534414
Chromosome Location	chr4:124476505-124476506
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:124468379..124470868-chr4:124475670..124478553,3	MCF-7	breast:
2	chr4:124474240..124477049-chr4:124479900..124483134,3	MCF-7	breast:
3	chr4:124469682..124473257-chr4:124473946..124477600,3	K562	blood:
4	chr4:124473977..124476757-chr4:124478680..124481463,3	K562	blood:
5	chr4:124445210..124447431-chr4:124475795..124477882,2	MCF-7	breast:
6	chr4:124470991..124473666-chr4:124474843..124477513,2	MCF-7	breast:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs12503335	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1452732	0.86[ASN][1000 genomes]
rs17752451	0.97[ASN][1000 genomes]
rs17809071	0.95[ASN][1000 genomes]
rs1993190	0.89[ASN][1000 genomes]
rs2014110	0.85[ASN][1000 genomes]
rs2553360	0.87[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs2553363	0.87[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs2553372	0.95[ASN][1000 genomes]
rs2553373	0.95[ASN][1000 genomes]
rs2553374	0.86[ASN][1000 genomes]
rs2553375	0.86[ASN][1000 genomes]
rs2553377	0.86[ASN][1000 genomes]
rs2553378	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2589836	0.97[ASN][1000 genomes]
rs2589865	0.97[ASN][1000 genomes]
rs2893051	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4254791	0.85[ASN][1000 genomes]
rs4254792	0.97[ASN][1000 genomes]
rs4286523	0.97[ASN][1000 genomes]
rs4365740	0.87[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs4377602	0.84[ASN][1000 genomes]
rs4400004	0.97[ASN][1000 genomes]
rs4596251	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4833280	0.86[ASN][1000 genomes]
rs4833282	0.97[ASN][1000 genomes]
rs4833931	0.97[ASN][1000 genomes]
rs6534412	0.89[ASN][1000 genomes]
rs6813552	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6832678	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6838729	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6852763	0.97[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs766162	0.83[EUR][1000 genomes]
rs7664219	0.91[AMR][1000 genomes]
rs7694928	0.88[ASN][1000 genomes]
rs979998	0.89[ASN][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	nsv1006945	chr4:124206328-124503863	Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv537240	chr4:124206328-124503863	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	esv34581	chr4:124271321-125247395	Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv879871	chr4:124437842-124527958	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv879872	chr4:124441989-124527958	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv469710	chr4:124474286-124623722	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv482747	chr4:124474286-124623722	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:124472600-124481000	Weak transcription	Aorta	Aorta
2	chr4:124473600-124481600	Enhancers	Fetal Intestine Large	intestine
3	chr4:124473800-124480800	Enhancers	Stomach Mucosa	stomach
4	chr4:124474000-124479400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr4:124474200-124478200	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr4:124474200-124478200	Enhancers	Small Intestine	intestine
7	chr4:124474400-124477200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr4:124474400-124478000	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr4:124474400-124478000	Enhancers	Fetal Muscle Leg	muscle
10	chr4:124474600-124477200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr4:124474600-124477600	Enhancers	Primary hematopoietic stem cells	blood
12	chr4:124474800-124476600	Enhancers	Fetal Kidney	kidney
13	chr4:124475000-124476600	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr4:124475000-124477400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr4:124475000-124477600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr4:124475000-124477600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr4:124475000-124477800	Enhancers	Fetal Heart	heart
18	chr4:124475200-124478000	Enhancers	Fetal Lung	lung
19	chr4:124475400-124476600	Enhancers	Colon Smooth Muscle	Colon
20	chr4:124475400-124477400	Enhancers	Fetal Stomach	stomach
21	chr4:124475400-124477600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr4:124475400-124477600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr4:124475400-124477600	Enhancers	Colonic Mucosa	Colon
24	chr4:124475400-124477800	Enhancers	Cortex derived primary cultured neurospheres	brain
25	chr4:124475400-124477800	Enhancers	HMEC	breast
26	chr4:124475400-124478000	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr4:124475400-124478000	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr4:124475400-124478200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr4:124475600-124476800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr4:124475600-124477000	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr4:124475600-124477600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr4:124475800-124476600	Flanking Active TSS	A549	lung
33	chr4:124475800-124477200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr4:124475800-124477200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr4:124475800-124477600	Enhancers	Brain Anterior Caudate	brain
36	chr4:124475800-124477600	Enhancers	Placenta	Placenta
37	chr4:124475800-124477800	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr4:124475800-124477800	Enhancers	Pancreas	Pancrea
39	chr4:124475800-124478000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr4:124475800-124478000	Enhancers	Muscle Satellite Cultured Cells	--
41	chr4:124476000-124476600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr4:124476000-124476600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr4:124476000-124476600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr4:124476000-124476600	Flanking Active TSS	Liver	Liver
45	chr4:124476000-124476600	Flanking Active TSS	Duodenum Mucosa	Duodenum
46	chr4:124476000-124476600	Enhancers	Fetal Thymus	thymus
47	chr4:124476000-124476600	Enhancers	Rectal Smooth Muscle	rectum
48	chr4:124476000-124476600	Flanking Active TSS	HepG2	liver
49	chr4:124476000-124477200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr4:124476000-124477200	Enhancers	Left Ventricle	heart

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