Variant report

Variant	rs547208250
Chromosome Location	chr13:110951968-110951969
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	chr13:110951727..110953711-chr13:110957949..110960529,2	K562	blood:

Variant related genes	Relation type
ENSG00000134871	Chromatin interaction
ENSG00000187498	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	nsv1038914	chr13:110860219-111190104	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv1046423	chr13:110936104-111286607	Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv1049454	chr13:110950768-111006547	Strong transcription Flanking Active TSS Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
4	nsv523051	chr13:110951315-110966349	Genic enhancers Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv563104	chr13:110951487-110960255	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110936200-110958800	Weak transcription	Gastric	stomach
2	chr13:110937000-110955400	Weak transcription	A549	lung
3	chr13:110937400-110952000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr13:110940400-110953600	Weak transcription	NHEK	skin
5	chr13:110945600-110955600	Weak transcription	Pancreas	Pancrea
6	chr13:110947400-110952600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr13:110948200-110952600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr13:110948200-110954200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr13:110948600-110954200	Genic enhancers	NH-A	brain
10	chr13:110949000-110952800	Strong transcription	Osteobl	bone
11	chr13:110949400-110954600	Enhancers	Fetal Heart	heart
12	chr13:110949400-110956800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr13:110950600-110952000	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr13:110950600-110952000	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr13:110950600-110953600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr13:110950600-110956600	Enhancers	NHDF-Ad	bronchial
17	chr13:110950800-110952000	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr13:110950800-110952000	Flanking Active TSS	Rectal Smooth Muscle	rectum
19	chr13:110950800-110952200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr13:110950800-110956200	Genic enhancers	Fetal Muscle Leg	muscle
21	chr13:110951000-110952000	Genic enhancers	Fetal Muscle Trunk	muscle
22	chr13:110951000-110952200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr13:110951000-110952200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr13:110951000-110952200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr13:110951000-110952200	Enhancers	Esophagus	oesophagus
26	chr13:110951000-110952200	Genic enhancers	Lung	lung
27	chr13:110951000-110954200	Genic enhancers	Fetal Stomach	stomach
28	chr13:110951000-110956200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr13:110951200-110952000	Enhancers	H9 Cell Line	embryonic stem cell
30	chr13:110951200-110952000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr13:110951200-110952000	Enhancers	HSMMtube	muscle
32	chr13:110951200-110952200	Flanking Active TSS	Colon Smooth Muscle	Colon
33	chr13:110951400-110952000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr13:110951400-110952000	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
35	chr13:110951400-110952200	Genic enhancers	Placenta	Placenta
36	chr13:110951400-110952200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
37	chr13:110951400-110952400	Enhancers	Duodenum Mucosa	Duodenum
38	chr13:110951400-110952800	Weak transcription	Fetal Kidney	kidney
39	chr13:110951400-110953000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr13:110951400-110953400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr13:110951400-110953800	Enhancers	Muscle Satellite Cultured Cells	--
42	chr13:110951400-110954400	Enhancers	Fetal Lung	lung
43	chr13:110951600-110952000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr13:110951600-110952000	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr13:110951600-110952000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr13:110951600-110952000	Enhancers	Right Atrium	heart
47	chr13:110951600-110952200	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr13:110951600-110952200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr13:110951600-110952800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
50	chr13:110951600-110953000	Weak transcription	Cortex derived primary cultured neurospheres	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links