Variant report

Variant	rs547370463
Chromosome Location	chr13:49740612-49740613
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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	nsv1049117	chr13:49089476-49928945	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS 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 target site	42 gene(s)	inside rSNPs	diseases
2	esv1793883	chr13:49543723-49789164	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv1796840	chr13:49671215-49760666	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv1052168	chr13:49691378-49743696	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv3376372	chr13:49739001-49741499	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49687600-49789000	Weak transcription	Stomach Mucosa	stomach
2	chr13:49706000-49748200	Weak transcription	K562	blood
3	chr13:49720600-49742200	Weak transcription	Hela-S3	cervix
4	chr13:49721800-49751400	Weak transcription	NH-A	brain
5	chr13:49722800-49752800	Weak transcription	Psoas Muscle	Psoas
6	chr13:49724400-49742200	Weak transcription	HUVEC	blood vessel
7	chr13:49724400-49765000	Weak transcription	A549	lung
8	chr13:49736400-49740800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr13:49736400-49760000	Weak transcription	NHLF	lung
10	chr13:49737000-49740800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr13:49737600-49744400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr13:49737600-49747000	Strong transcription	HepG2	liver
13	chr13:49737800-49741000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr13:49737800-49788800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr13:49738000-49777000	Weak transcription	Small Intestine	intestine
16	chr13:49738200-49746000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr13:49738400-49741000	Strong transcription	HSMMtube	muscle
18	chr13:49738400-49742600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr13:49738400-49742600	Weak transcription	Osteobl	bone
20	chr13:49738400-49745000	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr13:49738400-49746200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr13:49738400-49746600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr13:49738400-49750800	Weak transcription	Brain Angular Gyrus	brain
24	chr13:49738400-49754600	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr13:49738400-49758000	Weak transcription	Fetal Heart	heart
26	chr13:49738400-49762000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr13:49738400-49785200	Strong transcription	Liver	Liver
28	chr13:49738600-49741000	Strong transcription	Duodenum Mucosa	Duodenum
29	chr13:49738600-49742400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr13:49738600-49742400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr13:49738600-49742600	Weak transcription	NHDF-Ad	bronchial
32	chr13:49738600-49748200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr13:49738600-49757200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr13:49738600-49761400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr13:49738600-49785000	Strong transcription	Dnd41	blood
36	chr13:49738800-49741600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr13:49738800-49761800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr13:49739000-49741200	Strong transcription	Sigmoid Colon	Sigmoid Colon
39	chr13:49739000-49741600	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr13:49739000-49741600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr13:49739000-49742600	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr13:49739000-49744200	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr13:49739000-49744400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr13:49739000-49750800	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr13:49739000-49752200	Weak transcription	Brain Cingulate Gyrus	brain
46	chr13:49739000-49761800	Weak transcription	Brain Hippocampus Middle	brain
47	chr13:49739000-49768200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr13:49739000-49774200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr13:49739200-49740800	Strong transcription	Primary B cells from cord blood	blood
50	chr13:49739200-49740800	Strong transcription	Fetal Muscle Trunk	muscle

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