Variant report

Variant	rs577319263
Chromosome Location	chr13:50978279-50978280
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:50699120..50701231-chr13:50977977..50979669,2	K562	blood:
2	chr13:50697982..50700484-chr13:50975890..50978700,2	MCF-7	breast:
3	chr13:50698296..50700620-chr13:50977977..50980927,2	K562	blood:

Variant related genes	Relation type
ENSG00000231607	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035151	chr13:50513535-51167850	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1254 gene(s)	inside rSNPs	diseases
2	esv2753964	chr13:50545399-51421199	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
3	esv2753492	chr13:50550081-51461720	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
4	esv2752608	chr13:50550099-51054499	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1249 gene(s)	inside rSNPs	diseases
5	nsv832609	chr13:50946577-51065968	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv1045237	chr13:50976560-51102386	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50966600-50979800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr13:50968200-50985400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr13:50968200-50986600	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr13:50972200-50985400	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr13:50973200-50979200	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr13:50975400-50985200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr13:50975400-50996200	Weak transcription	Right Ventricle	heart
8	chr13:50975600-50978600	Weak transcription	Stomach Smooth Muscle	stomach
9	chr13:50975600-50979000	Weak transcription	Fetal Lung	lung
10	chr13:50975800-50983600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr13:50975800-50985200	Weak transcription	Right Atrium	heart
12	chr13:50976000-50978600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr13:50976000-50978600	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr13:50976600-50985200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr13:50977000-50985000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr13:50977200-50982400	Weak transcription	NHDF-Ad	bronchial
17	chr13:50977400-50980200	Weak transcription	Thymus	Thymus
18	chr13:50977600-50979600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr13:50977600-50984000	Weak transcription	Hela-S3	cervix
20	chr13:50977600-50985000	Weak transcription	Osteobl	bone
21	chr13:50977800-50978400	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr13:50977800-50978800	Weak transcription	Left Ventricle	heart
23	chr13:50977800-50978800	Weak transcription	Lung	lung
24	chr13:50977800-50978800	Weak transcription	Psoas Muscle	Psoas
25	chr13:50977800-50980800	Weak transcription	Fetal Thymus	thymus
26	chr13:50978000-50980800	Weak transcription	Fetal Heart	heart
27	chr13:50978000-50984600	Weak transcription	HepG2	liver
28	chr13:50978200-50979000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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