Variant report

Variant	rs13378726
Chromosome Location	chr13:48733685-48733686
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	chr13:48730879..48733755-chr13:48736482..48738295,2	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12100070	0.92[EUR][1000 genomes]
rs13378199	1.00[EUR][1000 genomes]
rs4448832	1.00[EUR][1000 genomes]
rs9316366	1.00[EUR][1000 genomes]
rs9591142	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9595854	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9595857	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9595869	1.00[EUR][1000 genomes]
rs9595872	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832601	chr13:48569952-48735939	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv541766	chr13:48703229-48857639	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv1047140	chr13:48703732-48765860	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv541767	chr13:48703732-48765860	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48724200-48738200	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr13:48726400-48735400	Weak transcription	Lung	lung
3	chr13:48728600-48735400	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr13:48729400-48734000	Enhancers	Fetal Thymus	thymus
5	chr13:48730400-48735400	Enhancers	Primary B cells from cord blood	blood
6	chr13:48730800-48734400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr13:48730800-48734600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr13:48730800-48734800	Weak transcription	K562	blood
9	chr13:48730800-48735400	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr13:48731000-48733800	Enhancers	Primary T cells fromperipheralblood	blood
11	chr13:48731000-48733800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr13:48731000-48734000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr13:48731000-48734200	Weak transcription	HUVEC	blood vessel
14	chr13:48731000-48734800	Weak transcription	Brain Anterior Caudate	brain
15	chr13:48731000-48734800	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr13:48731000-48735800	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr13:48731200-48733800	Enhancers	Dnd41	blood
18	chr13:48731200-48734000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr13:48731200-48734000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr13:48731200-48735800	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr13:48731600-48734000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr13:48732000-48734000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
23	chr13:48732000-48734200	Enhancers	Stomach Mucosa	stomach
24	chr13:48732000-48735200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr13:48732000-48735800	Enhancers	Placenta	Placenta
26	chr13:48732200-48733800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr13:48732200-48734200	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr13:48732200-48735400	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr13:48732200-48735800	Enhancers	HMEC	breast
30	chr13:48732400-48733800	Enhancers	Rectal Mucosa Donor 29	rectum
31	chr13:48732400-48734000	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr13:48732400-48734000	Enhancers	Thymus	Thymus
33	chr13:48732400-48734200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr13:48732400-48735000	Enhancers	Fetal Kidney	kidney
35	chr13:48732400-48735800	Enhancers	HSMM	muscle
36	chr13:48732400-48736000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr13:48732400-48738000	Enhancers	Adipose Nuclei	Adipose
38	chr13:48732600-48737000	Enhancers	Primary hematopoietic stem cells	blood
39	chr13:48732800-48733800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
40	chr13:48733000-48733800	Enhancers	A549	lung
41	chr13:48733000-48733800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
42	chr13:48733000-48734000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr13:48733000-48734000	Enhancers	Placenta Amnion	Placenta Amnion
44	chr13:48733000-48734400	Flanking Active TSS	NHEK	skin
45	chr13:48733000-48735600	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr13:48733000-48735600	Enhancers	Hela-S3	cervix
47	chr13:48733200-48733800	Enhancers	H9 Cell Line	embryonic stem cell
48	chr13:48733200-48734000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr13:48733200-48734200	Enhancers	Brain Hippocampus Middle	brain
50	chr13:48733200-48734400	Enhancers	iPS-18 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links