Variant report

Variant	rs4748139
Chromosome Location	chr10:6582980-6582981
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs4750565	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61173642	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]

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	nsv1053440	chr10:6354798-6669469	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
2	nsv1047309	chr10:6495583-6714060	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv549912	chr10:6566975-6629225	Enhancers Active TSS Genic enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:6571400-6592200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr10:6572000-6584600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr10:6573400-6584800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr10:6578400-6585000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
5	chr10:6578800-6584600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr10:6579000-6584600	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr10:6579400-6584200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr10:6579600-6583800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr10:6580000-6584800	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr10:6580200-6584000	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr10:6580200-6584200	Weak transcription	Duodenum Mucosa	Duodenum
12	chr10:6580200-6585000	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr10:6580200-6585000	Weak transcription	Lung	lung
14	chr10:6580400-6583000	Weak transcription	Psoas Muscle	Psoas
15	chr10:6580400-6584600	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr10:6580600-6583200	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr10:6580600-6583800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr10:6580600-6584000	Weak transcription	Primary hematopoietic stem cells	blood
19	chr10:6580600-6584000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr10:6580800-6583800	Enhancers	Fetal Thymus	thymus
21	chr10:6580800-6584800	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr10:6580800-6584800	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr10:6581000-6584000	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr10:6581000-6584400	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr10:6581000-6585000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr10:6581200-6584400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
27	chr10:6581200-6584600	Enhancers	Thymus	Thymus
28	chr10:6581400-6584400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr10:6581400-6584800	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr10:6581400-6585000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr10:6581600-6583800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr10:6581800-6584000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr10:6582200-6584000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
34	chr10:6582400-6584400	Enhancers	Dnd41	blood
35	chr10:6582400-6584600	Genic enhancers	Primary T cells from cord blood	blood
36	chr10:6582400-6584600	Genic enhancers	Primary T cells fromperipheralblood	blood
37	chr10:6582800-6585200	Weak transcription	K562	blood

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