Variant report

Variant	rs550035816
Chromosome Location	chr3:48896310-48896311
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr3:48896246-48896446	K562	blood:	n/a	n/a
2	EGR1	chr3:48896182-48896416	K562	blood:	n/a	n/a
3	TAL1	chr3:48896169-48896479	K562	blood:	n/a	n/a
4	TEAD4	chr3:48896152-48896473	K562	blood:	n/a	n/a
5	JUND	chr3:48896271-48896392	K562	blood:	n/a	n/a
6	GATA2	chr3:48896197-48896427	K562	blood:	n/a	chr3:48896308-48896324 chr3:48896308-48896324 chr3:48896305-48896326
7	STAT5A	chr3:48896211-48896533	K562	blood:	n/a	chr3:48896288-48896300
8	STAT5A	chr3:48896131-48896503	K562	blood:	n/a	chr3:48896288-48896300
9	MYC	chr3:48896302-48896352	K562	blood:	n/a	n/a
10	RCOR1	chr3:48896253-48896461	K562	blood:	n/a	n/a

Variant related genes	Relation type
SLC25A20	TF binding region

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	esv3487342	chr3:48823957-48960475	Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	esv3487343	chr3:48823963-48960381	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
3	esv3412312	chr3:48895048-48897746	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48885600-48915000	Weak transcription	Small Intestine	intestine
2	chr3:48885800-48896400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr3:48885800-48896400	Weak transcription	Ovary	ovary
4	chr3:48885800-48899600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr3:48885800-48900600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr3:48885800-48906600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr3:48885800-48913600	Weak transcription	Fetal Lung	lung
8	chr3:48886000-48897800	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr3:48886000-48899000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr3:48886000-48899600	Weak transcription	NHEK	skin
11	chr3:48886000-48899800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr3:48886200-48900000	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr3:48886200-48900400	Weak transcription	NHLF	lung
14	chr3:48886200-48900800	Weak transcription	NHDF-Ad	bronchial
15	chr3:48886400-48896400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr3:48886400-48897800	Weak transcription	Osteobl	bone
17	chr3:48886400-48899800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr3:48886600-48896400	Weak transcription	Fetal Muscle Trunk	muscle
19	chr3:48886600-48901800	Weak transcription	Fetal Heart	heart
20	chr3:48889200-48902000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr3:48889400-48901200	Weak transcription	Fetal Brain Male	brain
22	chr3:48889600-48935400	Weak transcription	Brain Germinal Matrix	brain
23	chr3:48889800-48916800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr3:48890200-48896600	Weak transcription	GM12878-XiMat	blood
25	chr3:48891600-48904600	Weak transcription	HSMM	muscle
26	chr3:48892600-48896600	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr3:48892600-48897000	Strong transcription	Duodenum Smooth Muscle	Duodenum
28	chr3:48892600-48897200	Strong transcription	Adipose Nuclei	Adipose
29	chr3:48892600-48897600	Strong transcription	Liver	Liver
30	chr3:48893200-48896400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr3:48893200-48896400	Genic enhancers	Skeletal Muscle Female	skeletal muscle
32	chr3:48893200-48896600	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr3:48893200-48897000	Strong transcription	Right Ventricle	heart
34	chr3:48893200-48897200	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr3:48893200-48897200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr3:48893200-48897200	Strong transcription	Left Ventricle	heart
37	chr3:48893200-48897200	Strong transcription	Thymus	Thymus
38	chr3:48893200-48897200	Strong transcription	Spleen	Spleen
39	chr3:48893200-48900400	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr3:48893200-48900600	Strong transcription	Stomach Smooth Muscle	stomach
41	chr3:48893400-48897000	Strong transcription	Lung	lung
42	chr3:48893400-48897000	Strong transcription	Pancreas	Pancrea
43	chr3:48893400-48897600	Strong transcription	Sigmoid Colon	Sigmoid Colon
44	chr3:48893400-48900200	Strong transcription	Fetal Thymus	thymus
45	chr3:48893600-48897000	Strong transcription	Primary T cells from cord blood	blood
46	chr3:48893600-48897200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr3:48893600-48897200	Strong transcription	Primary T helper cells PMA-I stimulated	--
48	chr3:48893800-48897200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr3:48893800-48897200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr3:48893800-48897400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links