Variant report

Variant	rs544790708
Chromosome Location	chr5:127376118-127376119
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1813981	chr5:127327649-127437401	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	esv1806594	chr5:127336033-127410767	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv1808488	chr5:127336033-127410767	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv1825228	chr5:127336033-127410767	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	esv1829119	chr5:127336033-127410767	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv508378	chr5:127374904-127405030	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:127328200-127379800	Weak transcription	Esophagus	oesophagus
2	chr5:127332400-127388800	Weak transcription	Aorta	Aorta
3	chr5:127333600-127388800	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr5:127333600-127417800	Weak transcription	Pancreas	Pancrea
5	chr5:127334600-127394000	Weak transcription	Lung	lung
6	chr5:127335000-127397600	Weak transcription	NHDF-Ad	bronchial
7	chr5:127343000-127380000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr5:127353200-127397000	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr5:127354000-127397400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr5:127354400-127398000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr5:127354600-127409800	Weak transcription	Left Ventricle	heart
12	chr5:127354800-127379800	Weak transcription	Fetal Stomach	stomach
13	chr5:127356200-127399200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr5:127356400-127379600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr5:127356400-127414000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr5:127357200-127393800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr5:127358000-127378400	Weak transcription	NHLF	lung
18	chr5:127358800-127389000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr5:127359600-127376400	Weak transcription	Ovary	ovary
20	chr5:127360400-127393800	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr5:127366000-127389000	Weak transcription	HSMMtube	muscle
22	chr5:127367000-127378400	Weak transcription	Primary hematopoietic stem cells	blood
23	chr5:127367400-127385200	Weak transcription	Primary B cells from cord blood	blood
24	chr5:127369200-127377000	Weak transcription	Primary T cells from cord blood	blood
25	chr5:127369200-127385200	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr5:127369400-127398000	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr5:127370800-127377000	Enhancers	Hela-S3	cervix
28	chr5:127371600-127379800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr5:127371600-127386200	Weak transcription	Colon Smooth Muscle	Colon
30	chr5:127371600-127389000	Weak transcription	Psoas Muscle	Psoas
31	chr5:127371600-127398000	Weak transcription	Small Intestine	intestine
32	chr5:127371800-127382800	Weak transcription	GM12878-XiMat	blood
33	chr5:127373000-127388800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr5:127373000-127389000	Weak transcription	Brain Angular Gyrus	brain
35	chr5:127373600-127376200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr5:127373600-127378400	Weak transcription	Primary B cells from peripheral blood	blood
37	chr5:127374000-127379600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr5:127374000-127379800	Weak transcription	Gastric	stomach
39	chr5:127374200-127379200	Weak transcription	Stomach Mucosa	stomach
40	chr5:127374200-127379600	Weak transcription	Fetal Intestine Small	intestine
41	chr5:127374600-127376800	Weak transcription	K562	blood
42	chr5:127374600-127379400	Weak transcription	Duodenum Mucosa	Duodenum
43	chr5:127374600-127384400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr5:127374600-127418000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr5:127375200-127376200	Enhancers	HUVEC	blood vessel
46	chr5:127375200-127379200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr5:127375200-127385800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr5:127375200-127386400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr5:127375200-127389000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr5:127375200-127414400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links