Variant report

Variant	rs1550448
Chromosome Location	chr4:47838126-47838127
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:47830463..47833080-chr4:47836939..47838798,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs16860753	0.82[YRI][hapmap]
rs16860835	0.82[YRI][hapmap]
rs6848169	0.82[YRI][hapmap];0.83[AFR][1000 genomes]
rs7696933	0.82[YRI][hapmap]
rs9761417	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008515	chr4:47488431-47906835	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv948568	chr4:47488431-47907524	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv1004939	chr4:47488573-47901460	Bivalent Enhancer Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv537080	chr4:47488573-47901460	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv997471	chr4:47489412-47895223	Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv998892	chr4:47493552-47863354	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
7	nsv537081	chr4:47493552-47863354	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
8	nsv1000337	chr4:47493907-47902019	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
9	nsv594118	chr4:47560386-47917730	Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
10	nsv829924	chr4:47670905-47866665	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv4328	chr4:47816467-47862253	Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	esv3447039	chr4:47822266-48285222	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:47826000-47838600	Weak transcription	Pancreas	Pancrea
2	chr4:47833200-47840800	Active TSS	Right Atrium	heart
3	chr4:47837000-47838200	Enhancers	Fetal Lung	lung
4	chr4:47837000-47838400	Enhancers	HSMMtube	muscle
5	chr4:47837200-47838200	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr4:47837200-47838200	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
7	chr4:47837200-47838200	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr4:47837200-47838400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr4:47837200-47838800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr4:47837400-47838200	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr4:47837400-47838200	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr4:47837400-47838200	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr4:47837400-47838200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr4:47837400-47838200	Enhancers	Brain Cingulate Gyrus	brain
15	chr4:47837400-47838200	Bivalent Enhancer	Stomach Smooth Muscle	stomach
16	chr4:47837400-47838200	Bivalent Enhancer	HUVEC	blood vessel
17	chr4:47837400-47838200	Enhancers	NH-A	brain
18	chr4:47837400-47838400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr4:47837400-47838400	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr4:47837400-47838400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
21	chr4:47837400-47838400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr4:47837400-47838400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
23	chr4:47837400-47838400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr4:47837400-47838400	Flanking Active TSS	Fetal Heart	heart
25	chr4:47837400-47838400	Bivalent Enhancer	Fetal Intestine Small	intestine
26	chr4:47837400-47838400	Enhancers	Ovary	ovary
27	chr4:47837400-47838600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
28	chr4:47837400-47838800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr4:47837600-47838200	Enhancers	H9 Cell Line	embryonic stem cell
30	chr4:47837600-47838200	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr4:47837600-47838200	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr4:47837600-47838200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr4:47837600-47838200	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr4:47837600-47838200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr4:47837600-47838200	Enhancers	Fetal Muscle Trunk	muscle
36	chr4:47837600-47838200	Bivalent Enhancer	Fetal Muscle Leg	muscle
37	chr4:47837600-47838200	Bivalent Enhancer	Rectal Smooth Muscle	rectum
38	chr4:47837600-47838200	Enhancers	HSMM	muscle
39	chr4:47837600-47838200	Enhancers	Osteobl	bone
40	chr4:47837600-47838400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr4:47837600-47838400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr4:47837600-47838400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr4:47837600-47838400	Enhancers	Brain Hippocampus Middle	brain
44	chr4:47837600-47838400	Enhancers	Brain Substantia Nigra	brain
45	chr4:47837600-47838400	Bivalent Enhancer	Colon Smooth Muscle	Colon
46	chr4:47837600-47838400	Bivalent Enhancer	Fetal Intestine Large	intestine
47	chr4:47837600-47838400	Bivalent Enhancer	Fetal Stomach	stomach
48	chr4:47837600-47838400	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
49	chr4:47837600-47838600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
50	chr4:47837600-47838600	Flanking Active TSS	Dnd41	blood

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