Variant report

Variant	rs561421028
Chromosome Location	chr13:52295026-52295027
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	chr13:52023064..52027990-chr13:52292653..52297533,6	MCF-7	breast:
2	chr13:52025496..52027333-chr13:52294582..52296334,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000102786	Chromatin interaction
ENSG00000236778	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832612	chr13:52176983-52362525	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv530718	chr13:52291802-52832752	Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv933424	chr13:52293482-52507732	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 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	chr13:52247600-52300200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr13:52247600-52300200	Weak transcription	Fetal Lung	lung
3	chr13:52249400-52307600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr13:52254600-52301800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr13:52263400-52295600	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr13:52264000-52300000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr13:52270800-52301600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr13:52271200-52301800	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr13:52273600-52295200	Weak transcription	Right Ventricle	heart
10	chr13:52273600-52295600	Weak transcription	Pancreas	Pancrea
11	chr13:52273600-52295800	Weak transcription	Spleen	Spleen
12	chr13:52274000-52295600	Weak transcription	Ovary	ovary
13	chr13:52274000-52300400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr13:52276400-52295400	Weak transcription	Adipose Nuclei	Adipose
15	chr13:52276600-52301800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr13:52277000-52300000	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr13:52278400-52299600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr13:52278800-52301800	Weak transcription	Thymus	Thymus
19	chr13:52278800-52302200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr13:52279400-52295200	Weak transcription	Stomach Smooth Muscle	stomach
21	chr13:52279400-52300200	Weak transcription	Liver	Liver
22	chr13:52279400-52301800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr13:52279400-52301800	Weak transcription	Gastric	stomach
24	chr13:52279400-52303000	Weak transcription	Lung	lung
25	chr13:52279600-52299400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr13:52279600-52300000	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr13:52279600-52301800	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr13:52279600-52301800	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr13:52279600-52304000	Weak transcription	Esophagus	oesophagus
30	chr13:52280200-52301600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr13:52282000-52302600	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr13:52283600-52297200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr13:52284800-52301000	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr13:52287800-52295600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr13:52288400-52322200	Weak transcription	K562	blood
36	chr13:52288600-52303000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr13:52289000-52300200	Weak transcription	Hela-S3	cervix
38	chr13:52289000-52301800	Weak transcription	A549	lung
39	chr13:52289200-52300000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr13:52289400-52305800	Weak transcription	Fetal Kidney	kidney
41	chr13:52290000-52300400	Weak transcription	NH-A	brain
42	chr13:52290000-52307600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr13:52290200-52301600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr13:52291400-52295400	Strong transcription	HepG2	liver
45	chr13:52291400-52297200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr13:52291400-52303000	Weak transcription	Fetal Stomach	stomach
47	chr13:52291600-52296400	Enhancers	Brain Substantia Nigra	brain
48	chr13:52292000-52295400	Weak transcription	Aorta	Aorta
49	chr13:52292200-52298200	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr13:52292200-52301800	Weak transcription	Dnd41	blood

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