Variant report

Variant	rs528170473
Chromosome Location	chr13:50599019-50599020
allele	A/G
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	chr13:50597577..50599094-chr13:50600225..50603029,2	MCF-7	breast:

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

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:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50574000-50599600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr13:50578600-50604200	Strong transcription	Dnd41	blood
3	chr13:50578600-50629800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr13:50578800-50654400	Weak transcription	Esophagus	oesophagus
5	chr13:50581800-50602800	Strong transcription	Fetal Thymus	thymus
6	chr13:50582200-50603600	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr13:50584400-50599800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr13:50586800-50601800	Weak transcription	Gastric	stomach
9	chr13:50586800-50654200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr13:50587000-50603800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr13:50587000-50633800	Weak transcription	Hela-S3	cervix
12	chr13:50587000-50645600	Weak transcription	Spleen	Spleen
13	chr13:50587200-50617000	Weak transcription	HepG2	liver
14	chr13:50587400-50607600	Weak transcription	Psoas Muscle	Psoas
15	chr13:50588000-50645600	Weak transcription	Ovary	ovary
16	chr13:50589800-50645600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr13:50590000-50603000	Weak transcription	Stomach Smooth Muscle	stomach
18	chr13:50590000-50624200	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr13:50590200-50653600	Weak transcription	Small Intestine	intestine
20	chr13:50590400-50604400	Weak transcription	NHEK	skin
21	chr13:50590800-50604600	Weak transcription	K562	blood
22	chr13:50591000-50599600	Weak transcription	Aorta	Aorta
23	chr13:50591000-50600800	Weak transcription	Colon Smooth Muscle	Colon
24	chr13:50591000-50603200	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr13:50591000-50609600	Weak transcription	Brain Substantia Nigra	brain
26	chr13:50591200-50600600	Weak transcription	GM12878-XiMat	blood
27	chr13:50591400-50599400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr13:50592000-50602200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr13:50592800-50599800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr13:50592800-50599800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr13:50593000-50618600	Weak transcription	HMEC	breast
32	chr13:50593200-50599600	Strong transcription	Osteobl	bone
33	chr13:50593200-50600000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr13:50593200-50604000	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr13:50593400-50599200	Strong transcription	Liver	Liver
36	chr13:50593400-50599400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr13:50593800-50599200	Strong transcription	Primary B cells from cord blood	blood
38	chr13:50594200-50599600	Strong transcription	Primary B cells from peripheral blood	blood
39	chr13:50594600-50622600	Weak transcription	A549	lung
40	chr13:50594600-50635000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr13:50594800-50608000	Weak transcription	NH-A	brain
42	chr13:50594800-50616400	Weak transcription	Primary hematopoietic stem cells	blood
43	chr13:50594800-50641000	Weak transcription	Lung	lung
44	chr13:50594800-50643200	Weak transcription	Brain Hippocampus Middle	brain
45	chr13:50594800-50643600	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr13:50595000-50600000	Weak transcription	HSMMtube	muscle
47	chr13:50595000-50601000	Weak transcription	Adipose Nuclei	Adipose
48	chr13:50595000-50602200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr13:50595000-50615600	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr13:50595000-50617200	Weak transcription	Fetal Heart	heart

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