Variant report

Variant	rs4383546
Chromosome Location	chr3:47541800-47541801
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	chr3:47537303..47543925-chr3:47549598..47557776,11	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PTPN23-6	chr3:47541331-47541897	NONHSAT089511

Variant related genes	Relation type
ENSG00000163832	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1038391	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11130134	1.00[EUR][1000 genomes]
rs11714816	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12631697	0.89[AMR][1000 genomes]
rs13091992	0.85[AMR][1000 genomes]
rs13094615	0.82[AFR][1000 genomes]
rs1486916	1.00[EUR][1000 genomes]
rs2170814	1.00[EUR][1000 genomes]
rs2351249	1.00[EUR][1000 genomes]
rs4858833	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4858834	1.00[EUR][1000 genomes]
rs4858855	1.00[EUR][1000 genomes]
rs55736379	1.00[EUR][1000 genomes]
rs6783591	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs6791025	0.94[AMR][1000 genomes]
rs73831515	1.00[EUR][1000 genomes]
rs7636126	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876756	chr3:47002931-47586514	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:128 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47517800-47544400	Weak transcription	Small Intestine	intestine
2	chr3:47532000-47546400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr3:47532600-47542200	Weak transcription	Fetal Brain Male	brain
4	chr3:47533600-47542200	Weak transcription	HUVEC	blood vessel
5	chr3:47534200-47547000	Strong transcription	Dnd41	blood
6	chr3:47534400-47543000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:47534400-47546000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr3:47534400-47546200	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr3:47534600-47546000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr3:47534600-47553000	Strong transcription	Fetal Thymus	thymus
11	chr3:47534800-47549400	Weak transcription	Fetal Heart	heart
12	chr3:47534800-47552400	Strong transcription	Fetal Intestine Small	intestine
13	chr3:47534800-47553200	Strong transcription	Fetal Stomach	stomach
14	chr3:47535200-47543000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr3:47535200-47546200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr3:47535200-47546200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr3:47535200-47546200	Strong transcription	Thymus	Thymus
18	chr3:47535200-47547000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr3:47535200-47553000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr3:47535400-47546400	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr3:47535400-47546400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr3:47535400-47546400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr3:47535600-47546600	Strong transcription	H1 Cell Line	embryonic stem cell
24	chr3:47535600-47547000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr3:47535600-47552800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr3:47535800-47546600	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr3:47536200-47544000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr3:47536200-47546400	Strong transcription	Fetal Muscle Trunk	muscle
29	chr3:47536200-47553200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr3:47536400-47546000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr3:47536400-47546000	Strong transcription	Primary neutrophils fromperipheralblood	blood
32	chr3:47536400-47546200	Strong transcription	Liver	Liver
33	chr3:47536400-47546400	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr3:47536400-47546400	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr3:47536400-47546800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr3:47536400-47547000	Strong transcription	HepG2	liver
37	chr3:47536600-47543200	Strong transcription	HSMMtube	muscle
38	chr3:47536600-47543400	Strong transcription	Ovary	ovary
39	chr3:47536600-47544000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr3:47536600-47544400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr3:47536600-47546000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr3:47536600-47546000	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr3:47536600-47546000	Strong transcription	Colonic Mucosa	Colon
44	chr3:47536600-47546000	Strong transcription	Fetal Intestine Large	intestine
45	chr3:47536600-47546000	Strong transcription	Left Ventricle	heart
46	chr3:47536600-47546000	Strong transcription	Pancreas	Pancrea
47	chr3:47536600-47546000	Strong transcription	GM12878-XiMat	blood
48	chr3:47536600-47546000	Strong transcription	NHLF	lung
49	chr3:47536600-47546000	Strong transcription	Osteobl	bone
50	chr3:47536600-47546200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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