Variant report

Variant	rs544897383
Chromosome Location	chr5:57314374-57314375
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:57309227..57311438-chr5:57313278..57314913,2	K562	blood:
2	chr5:57312144..57315034-chr5:57754413..57757407,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145632	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525330	chr5:56931673-57320343	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv1792273	chr5:57214817-57320343	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	esv1817904	chr5:57277522-57359476	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	esv1829717	chr5:57277522-57359476	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv1830976	chr5:57277522-57359476	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv1837615	chr5:57277522-57359476	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv1846984	chr5:57277522-57359476	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv1850205	chr5:57277522-57359476	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv508357	chr5:57304472-57360187	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	nsv1020936	chr5:57309031-57333521	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
11	nsv1015769	chr5:57309031-57338357	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
12	nsv598229	chr5:57309072-57345166	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
13	nsv1018119	chr5:57309406-57332632	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
14	nsv1019152	chr5:57310368-57332632	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
15	nsv1016557	chr5:57310368-57332943	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
16	nsv1021803	chr5:57310368-57333521	Enhancers Weak transcription Active TSS Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
17	nsv4840	chr5:57311002-57352746	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
18	esv1804295	chr5:57312154-57333508	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
19	esv1808533	chr5:57312154-57333508	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
20	nsv1022237	chr5:57313235-57332542	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
21	nsv1023759	chr5:57314205-57333521	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
22	esv2763867	chr5:57314217-57360670	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:57302600-57315600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:57309600-57314400	Weak transcription	Fetal Heart	heart
3	chr5:57311400-57315400	Weak transcription	Left Ventricle	heart
4	chr5:57311800-57314400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:57312000-57314400	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr5:57312000-57315400	Weak transcription	Aorta	Aorta
7	chr5:57312600-57315400	Weak transcription	Psoas Muscle	Psoas
8	chr5:57312800-57316200	Enhancers	Hela-S3	cervix
9	chr5:57312800-57317000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr5:57312800-57317200	Weak transcription	Placenta	Placenta
11	chr5:57313200-57314600	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr5:57313800-57314600	Weak transcription	Fetal Lung	lung
13	chr5:57314200-57315400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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