Variant report

Variant	rs1978281
Chromosome Location	chr4:55554833-55554834
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10009832	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11940626	1.00[EUR][1000 genomes]
rs17084689	1.00[EUR][1000 genomes]
rs17084692	1.00[EUR][1000 genomes]
rs17084700	1.00[EUR][1000 genomes]
rs17084709	1.00[EUR][1000 genomes]
rs17084730	1.00[EUR][1000 genomes]
rs17084732	1.00[EUR][1000 genomes]
rs218272	1.00[EUR][1000 genomes]
rs2412605	1.00[EUR][1000 genomes]
rs2537868	1.00[EUR][1000 genomes]
rs2537869	1.00[EUR][1000 genomes]
rs2537870	1.00[EUR][1000 genomes]
rs2537871	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2537877	1.00[EUR][1000 genomes]
rs2703466	1.00[EUR][1000 genomes]
rs2703470	1.00[EUR][1000 genomes]
rs2703471	1.00[EUR][1000 genomes]
rs2703482	1.00[EUR][1000 genomes]
rs2703483	1.00[EUR][1000 genomes]
rs2703490	1.00[EUR][1000 genomes]
rs2855769	1.00[EUR][1000 genomes]
rs2855775	1.00[EUR][1000 genomes]
rs2855776	1.00[EUR][1000 genomes]
rs2855779	1.00[EUR][1000 genomes]
rs2969156	1.00[EUR][1000 genomes]
rs2969157	1.00[EUR][1000 genomes]
rs2969160	1.00[EUR][1000 genomes]
rs2969161	1.00[EUR][1000 genomes]
rs3020819	1.00[EUR][1000 genomes]
rs3020824	1.00[EUR][1000 genomes]
rs3020828	1.00[EUR][1000 genomes]
rs3111792	1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3111799	1.00[EUR][1000 genomes]
rs3111808	1.00[EUR][1000 genomes]
rs3111809	1.00[EUR][1000 genomes]
rs3134886	1.00[EUR][1000 genomes]
rs3134888	1.00[EUR][1000 genomes]
rs56288823	1.00[EUR][1000 genomes]
rs56744789	1.00[EUR][1000 genomes]
rs59971610	1.00[EUR][1000 genomes]
rs61002343	1.00[EUR][1000 genomes]
rs73141818	1.00[EUR][1000 genomes]
rs73148424	1.00[EUR][1000 genomes]
rs73150417	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999400	chr4:55143598-55776995	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	esv3367952	chr4:55437113-55724644	Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv526344	chr4:55522488-56231119	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv1009516	chr4:55548449-55560839	Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent Enhancer Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:55545600-55575800	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr4:55545800-55562000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr4:55546800-55558000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr4:55548000-55561600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr4:55549000-55555200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr4:55549200-55559200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr4:55551800-55561800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr4:55552000-55556000	Enhancers	Primary B cells from peripheral blood	blood
9	chr4:55552200-55555600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr4:55553400-55555600	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr4:55553600-55555000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr4:55553600-55555000	Enhancers	Primary T cells from cord blood	blood
13	chr4:55553600-55555200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr4:55553600-55555200	Enhancers	Fetal Thymus	thymus
15	chr4:55553800-55555000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr4:55553800-55555200	Enhancers	GM12878-XiMat	blood
17	chr4:55554000-55556000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr4:55554200-55555000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr4:55554200-55555200	Enhancers	Brain Anterior Caudate	brain
20	chr4:55554400-55555200	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr4:55554400-55557600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr4:55554600-55555200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
23	chr4:55554600-55555600	Enhancers	Primary B cells from cord blood	blood
24	chr4:55554600-55559800	Enhancers	Primary hematopoietic stem cells	blood
25	chr4:55554600-55562600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr4:55554600-55566400	Weak transcription	NH-A	brain
27	chr4:55554800-55555000	Enhancers	Brain Hippocampus Middle	brain
28	chr4:55554800-55555400	Enhancers	Monocytes-CD14+_RO01746	blood

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