Variant report

Variant	rs4082089
Chromosome Location	chr10:49674556-49674557
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	chr10:49514372..49515875-chr10:49672720..49674716,2	K562	blood:

Variant related genes	Relation type
ENSG00000107643	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10745275	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10776604	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10776605	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1867574	1.00[AMR][1000 genomes]
rs1867575	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3867448	1.00[AMR][1000 genomes]
rs3867449	1.00[AMR][1000 genomes]
rs3867450	1.00[AMR][1000 genomes]
rs4012794	1.00[AMR][1000 genomes]
rs4012795	1.00[AMR][1000 genomes]
rs7478027	1.00[AMR][1000 genomes]

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	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv895372	chr10:49576878-49933488	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv467191	chr10:49669142-49735563	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv550813	chr10:49669142-49735563	Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	esv3376035	chr10:49673571-49676119	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	esv3348914	chr10:49673721-49675819	Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49655200-49677800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr10:49657800-49677600	Weak transcription	HSMMtube	muscle
3	chr10:49665400-49675000	Weak transcription	HUVEC	blood vessel
4	chr10:49668400-49676200	Weak transcription	NHLF	lung
5	chr10:49669200-49674800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr10:49670200-49675200	Weak transcription	Osteobl	bone
7	chr10:49670800-49674800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr10:49671000-49680400	Enhancers	Primary hematopoietic stem cells	blood
9	chr10:49671200-49675400	Enhancers	Brain Hippocampus Middle	brain
10	chr10:49671400-49674800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr10:49671400-49675200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr10:49671400-49675600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr10:49672400-49675200	Bivalent Enhancer	Placenta	Placenta
14	chr10:49672400-49675400	Enhancers	Brain Substantia Nigra	brain
15	chr10:49672400-49677200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr10:49672400-49683400	Weak transcription	Spleen	Spleen
17	chr10:49672600-49681800	Weak transcription	Aorta	Aorta
18	chr10:49672800-49674600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr10:49672800-49675200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr10:49673000-49681200	Weak transcription	HSMM	muscle
21	chr10:49673200-49674600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr10:49673200-49674600	Flanking Active TSS	NHEK	skin
23	chr10:49673400-49674600	Enhancers	NH-A	brain
24	chr10:49673400-49674800	Enhancers	Brain Angular Gyrus	brain
25	chr10:49673400-49675000	Weak transcription	Fetal Thymus	thymus
26	chr10:49673400-49675000	Flanking Active TSS	HMEC	breast
27	chr10:49673600-49675400	Enhancers	NHDF-Ad	bronchial
28	chr10:49673600-49677600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr10:49673800-49675200	Bivalent Enhancer	Fetal Brain Male	brain
30	chr10:49673800-49676200	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr10:49674000-49674600	Bivalent Enhancer	Fetal Intestine Small	intestine
32	chr10:49674000-49675000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
33	chr10:49674000-49675000	Weak transcription	K562	blood
34	chr10:49674000-49675200	Bivalent Enhancer	Fetal Intestine Large	intestine
35	chr10:49674000-49675400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr10:49674200-49674600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr10:49674200-49674600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr10:49674200-49674600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
39	chr10:49674200-49674600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
40	chr10:49674200-49674600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
41	chr10:49674200-49674600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
42	chr10:49674200-49674600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
43	chr10:49674200-49674800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr10:49674200-49675000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
45	chr10:49674200-49675000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr10:49674200-49675000	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr10:49674200-49675000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr10:49674200-49675000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr10:49674200-49675000	Bivalent Enhancer	Colonic Mucosa	Colon
50	chr10:49674200-49675000	Enhancers	Lung	lung

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