Variant report

Variant	rs117839919
Chromosome Location	chr13:50599951-50599952
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:50598361..50600763-chr13:50602466..50604071,2	K562	blood:
2	chr13:50571176..50573636-chr13:50599615..50602517,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KCNRG-1	chr13:50598524-50602129	NONHSAT033786

Variant related genes	Relation type
ENSG00000204977	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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	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	nsv1054415	chr13:50598121-50650938	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1202 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	chr13:50578600-50604200	Strong transcription	Dnd41	blood
2	chr13:50578600-50629800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr13:50578800-50654400	Weak transcription	Esophagus	oesophagus
4	chr13:50581800-50602800	Strong transcription	Fetal Thymus	thymus
5	chr13:50582200-50603600	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr13:50586800-50601800	Weak transcription	Gastric	stomach
7	chr13:50586800-50654200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr13:50587000-50603800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr13:50587000-50633800	Weak transcription	Hela-S3	cervix
10	chr13:50587000-50645600	Weak transcription	Spleen	Spleen
11	chr13:50587200-50617000	Weak transcription	HepG2	liver
12	chr13:50587400-50607600	Weak transcription	Psoas Muscle	Psoas
13	chr13:50588000-50645600	Weak transcription	Ovary	ovary
14	chr13:50589800-50645600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr13:50590000-50603000	Weak transcription	Stomach Smooth Muscle	stomach
16	chr13:50590000-50624200	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr13:50590200-50653600	Weak transcription	Small Intestine	intestine
18	chr13:50590400-50604400	Weak transcription	NHEK	skin
19	chr13:50590800-50604600	Weak transcription	K562	blood
20	chr13:50591000-50600800	Weak transcription	Colon Smooth Muscle	Colon
21	chr13:50591000-50603200	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr13:50591000-50609600	Weak transcription	Brain Substantia Nigra	brain
23	chr13:50591200-50600600	Weak transcription	GM12878-XiMat	blood
24	chr13:50592000-50602200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr13:50593000-50618600	Weak transcription	HMEC	breast
26	chr13:50593200-50600000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr13:50593200-50604000	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr13:50594600-50622600	Weak transcription	A549	lung
29	chr13:50594600-50635000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr13:50594800-50608000	Weak transcription	NH-A	brain
31	chr13:50594800-50616400	Weak transcription	Primary hematopoietic stem cells	blood
32	chr13:50594800-50641000	Weak transcription	Lung	lung
33	chr13:50594800-50643200	Weak transcription	Brain Hippocampus Middle	brain
34	chr13:50594800-50643600	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr13:50595000-50600000	Weak transcription	HSMMtube	muscle
36	chr13:50595000-50601000	Weak transcription	Adipose Nuclei	Adipose
37	chr13:50595000-50602200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr13:50595000-50615600	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr13:50595000-50617200	Weak transcription	Fetal Heart	heart
40	chr13:50595000-50654200	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr13:50595200-50640000	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr13:50595800-50616000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr13:50595800-50616200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr13:50595800-50654400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr13:50596200-50600200	Weak transcription	Fetal Intestine Large	intestine
46	chr13:50596400-50620400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr13:50596800-50614000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr13:50596800-50615600	Weak transcription	Duodenum Mucosa	Duodenum
49	chr13:50597000-50602600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr13:50597000-50624600	Weak transcription	Fetal Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links