Variant report

Variant	rs2463988
Chromosome Location	chr4:160322448-160322449
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:160320966..160323361-chr4:160350586..160353397,2	K562	blood:
2	chr4:160320949..160323561-chr4:160326956..160329279,2	K562	blood:
3	chr4:160320145..160323561-chr4:160326463..160329279,3	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11100222	0.94[ASN][1000 genomes]
rs17038157	0.81[EUR][1000 genomes]
rs17306268	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2463987	0.85[EUR][1000 genomes]
rs2699004	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2699012	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2699015	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2699017	0.85[EUR][1000 genomes]
rs2699018	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2699023	0.88[ASN][1000 genomes]
rs2699024	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2699026	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2699030	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2699032	0.85[ASN][1000 genomes]
rs2699033	0.85[ASN][1000 genomes]
rs2699038	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2707659	0.85[ASN][1000 genomes]
rs2707660	0.85[ASN][1000 genomes]
rs2707661	0.85[ASN][1000 genomes]
rs2707665	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4690940	0.85[ASN][1000 genomes]
rs4690941	0.81[ASN][1000 genomes]
rs4691558	0.90[ASN][1000 genomes]
rs72967790	0.89[ASN][1000 genomes]
rs72967798	0.94[AFR][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	nsv1022771	chr4:160188801-160324683	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:160320200-160323000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr4:160320200-160323000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr4:160321400-160322600	Enhancers	GM12878-XiMat	blood
4	chr4:160321400-160323200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr4:160321400-160324600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr4:160321600-160322600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr4:160321600-160322800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr4:160321600-160323200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr4:160321600-160323200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr4:160321600-160323200	Enhancers	Fetal Brain Male	brain
11	chr4:160321600-160323400	Enhancers	Left Ventricle	heart
12	chr4:160321600-160323600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr4:160321600-160323600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr4:160321600-160323600	Enhancers	Right Ventricle	heart
15	chr4:160321600-160323600	Enhancers	NHEK	skin
16	chr4:160321600-160324200	Enhancers	NH-A	brain
17	chr4:160321800-160322600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr4:160321800-160322600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr4:160321800-160322600	Flanking Active TSS	NHDF-Ad	bronchial
20	chr4:160321800-160322800	Flanking Active TSS	Primary hematopoietic stem cells	blood
21	chr4:160321800-160323000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr4:160321800-160323200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr4:160321800-160323200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr4:160322000-160322600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr4:160322000-160322600	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr4:160322000-160322600	Flanking Active TSS	NHLF	lung
27	chr4:160322000-160322800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr4:160322000-160322800	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr4:160322000-160322800	Active TSS	Duodenum Smooth Muscle	Duodenum
30	chr4:160322000-160322800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr4:160322000-160322800	Active TSS	Stomach Smooth Muscle	stomach
32	chr4:160322000-160322800	Flanking Active TSS	HSMM	muscle
33	chr4:160322000-160323000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
34	chr4:160322000-160323000	Active TSS	Brain Angular Gyrus	brain
35	chr4:160322000-160323000	Enhancers	Right Atrium	heart
36	chr4:160322000-160323200	Enhancers	Placenta	Placenta
37	chr4:160322000-160323200	Enhancers	Lung	lung
38	chr4:160322000-160323200	Enhancers	Placenta Amnion	Placenta Amnion
39	chr4:160322000-160323200	Enhancers	HSMMtube	muscle
40	chr4:160322000-160323400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr4:160322000-160323400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr4:160322000-160323400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr4:160322000-160323600	Enhancers	Fetal Heart	heart
44	chr4:160322000-160323800	Enhancers	Muscle Satellite Cultured Cells	--
45	chr4:160322000-160324400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr4:160322000-160324800	Enhancers	HMEC	breast
47	chr4:160322200-160322600	Flanking Active TSS	Adipose Nuclei	Adipose
48	chr4:160322200-160322600	Enhancers	Brain Anterior Caudate	brain
49	chr4:160322200-160322600	Enhancers	Brain Cingulate Gyrus	brain
50	chr4:160322200-160322600	Flanking Active TSS	Fetal Muscle Trunk	muscle

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