Variant report

Variant	rs73253009
Chromosome Location	chr5:114871342-114871343
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:114871080..114874419-chr5:114878380..114881579,3	MCF-7	breast:
2	chr5:114630084..114632961-chr5:114870291..114872236,2	K562	blood:
3	chr5:114869947..114871868-chr5:114902039..114905014,2	K562	blood:
4	chr5:114871294..114875752-chr5:114877507..114881029,8	MCF-7	breast:
5	chr5:114870046..114871711-chr5:114873556..114876513,2	MCF-7	breast:
6	chr5:114865115..114868183-chr5:114868722..114871711,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145780	Chromatin interaction
ENSG00000164221	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs73251175	0.85[AFR][1000 genomes]
rs73251180	1.00[AFR][1000 genomes]
rs73251187	1.00[AFR][1000 genomes]
rs73251189	1.00[AFR][1000 genomes]
rs73251191	1.00[AFR][1000 genomes]
rs73251194	0.94[AFR][1000 genomes]
rs73251195	1.00[AFR][1000 genomes]
rs73251200	1.00[AFR][1000 genomes]
rs73251202	0.90[AFR][1000 genomes]
rs73253004	1.00[AFR][1000 genomes]
rs73253008	1.00[AFR][1000 genomes]
rs73253016	1.00[AFR][1000 genomes]
rs73253018	1.00[AFR][1000 genomes]
rs73254564	0.83[AFR][1000 genomes]
rs73254581	0.83[AFR][1000 genomes]
rs7730778	1.00[AFR][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	nsv916273	chr5:114656592-115089901	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv868915	chr5:114723371-115252527	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv830455	chr5:114761542-114938284	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv1032234	chr5:114785557-114911527	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv1796164	chr5:114854685-114936768	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114857800-114877200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr5:114858600-114878800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:114858800-114876200	Weak transcription	Fetal Stomach	stomach
4	chr5:114860800-114874000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr5:114860800-114877200	Weak transcription	Colonic Mucosa	Colon
6	chr5:114861000-114878600	Weak transcription	Pancreas	Pancrea
7	chr5:114861000-114878800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr5:114861000-114878800	Weak transcription	Spleen	Spleen
9	chr5:114861200-114871600	Weak transcription	HSMMtube	muscle
10	chr5:114861200-114872400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr5:114861200-114874200	Weak transcription	Aorta	Aorta
12	chr5:114861200-114875800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr5:114861200-114878600	Weak transcription	Esophagus	oesophagus
14	chr5:114861400-114871800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr5:114861400-114874200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr5:114861400-114874600	Weak transcription	Thymus	Thymus
17	chr5:114861400-114875400	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr5:114861400-114877200	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr5:114861600-114871600	Weak transcription	Placenta	Placenta
20	chr5:114861600-114874200	Weak transcription	Fetal Muscle Trunk	muscle
21	chr5:114863400-114874600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr5:114863600-114873000	Weak transcription	Ovary	ovary
23	chr5:114863600-114878600	Weak transcription	Gastric	stomach
24	chr5:114863800-114871400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr5:114864200-114874200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr5:114864800-114874000	Weak transcription	Small Intestine	intestine
27	chr5:114866000-114872800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr5:114867600-114872000	Weak transcription	Brain Cingulate Gyrus	brain
29	chr5:114867600-114872400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr5:114867800-114871600	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr5:114867800-114872200	Weak transcription	Brain Hippocampus Middle	brain
32	chr5:114867800-114873000	Weak transcription	Psoas Muscle	Psoas
33	chr5:114867800-114873000	Weak transcription	Right Atrium	heart
34	chr5:114867800-114874000	Weak transcription	Left Ventricle	heart
35	chr5:114867800-114875600	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr5:114868000-114872800	Weak transcription	Stomach Mucosa	stomach
37	chr5:114868200-114872200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr5:114868200-114872600	Strong transcription	Primary neutrophils fromperipheralblood	blood
39	chr5:114868400-114874000	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr5:114868400-114878000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr5:114868600-114872000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr5:114868600-114872400	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr5:114868600-114872800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
44	chr5:114868600-114875000	Strong transcription	HSMM	muscle
45	chr5:114868800-114872000	Weak transcription	Fetal Intestine Large	intestine
46	chr5:114868800-114874200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr5:114869000-114875400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr5:114869200-114875600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
49	chr5:114869200-114876200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr5:114869600-114871400	Enhancers	Fetal Brain Male	brain

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