Variant report

Variant	rs72807581
Chromosome Location	chr2:63033430-63033431
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11897498	0.85[EUR][1000 genomes]
rs17473098	0.89[EUR][1000 genomes]
rs41363353	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56078239	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72807574	0.86[EUR][1000 genomes]
rs72807582	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72807583	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72807585	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72807586	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72807589	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72888951	0.81[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	nsv535767	chr2:62461582-63413596	Bivalent Enhancer Strong transcription Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	esv3417336	chr2:62957866-63749654	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv428041	chr2:63027947-63206574	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:63017000-63037400	Weak transcription	NHLF	lung
2	chr2:63017400-63049400	Weak transcription	Fetal Heart	heart
3	chr2:63019600-63043400	Weak transcription	Brain Angular Gyrus	brain
4	chr2:63020600-63082000	Weak transcription	Pancreas	Pancrea
5	chr2:63020800-63040200	Weak transcription	Left Ventricle	heart
6	chr2:63022400-63040400	Weak transcription	NHEK	skin
7	chr2:63022400-63041000	Weak transcription	HSMM	muscle
8	chr2:63022800-63034400	Weak transcription	Primary B cells from cord blood	blood
9	chr2:63022800-63035800	Weak transcription	Fetal Kidney	kidney
10	chr2:63023800-63049000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr2:63026200-63034200	Strong transcription	HepG2	liver
12	chr2:63028000-63037600	Weak transcription	Colon Smooth Muscle	Colon
13	chr2:63028600-63063400	Weak transcription	Brain Substantia Nigra	brain
14	chr2:63029400-63033600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr2:63029600-63033600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr2:63029600-63033600	Weak transcription	Fetal Thymus	thymus
17	chr2:63029600-63034800	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr2:63029600-63040600	Weak transcription	HMEC	breast
19	chr2:63030000-63033600	Weak transcription	GM12878-XiMat	blood
20	chr2:63031000-63083000	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr2:63031200-63033600	Weak transcription	Osteobl	bone
22	chr2:63031400-63034200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr2:63031400-63082000	Weak transcription	Thymus	Thymus
24	chr2:63031600-63033600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr2:63031600-63040800	Weak transcription	NH-A	brain
26	chr2:63031600-63053800	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr2:63031800-63033800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr2:63031800-63034600	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr2:63031800-63035600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr2:63032000-63034400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr2:63032000-63035400	Strong transcription	NHDF-Ad	bronchial
32	chr2:63032000-63040200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr2:63032600-63033600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr2:63032600-63033800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr2:63032600-63034000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr2:63032600-63034200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr2:63032600-63034200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr2:63032600-63034400	ZNF genes & repeats	A549	lung
39	chr2:63032600-63036600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr2:63032800-63033800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr2:63032800-63033800	Strong transcription	Primary T cells from cord blood	blood
42	chr2:63032800-63033800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
43	chr2:63032800-63033800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr2:63032800-63033800	ZNF genes & repeats	Aorta	Aorta
45	chr2:63032800-63034000	Strong transcription	Fetal Muscle Trunk	muscle
46	chr2:63032800-63034000	ZNF genes & repeats	Fetal Muscle Leg	muscle
47	chr2:63032800-63034200	Strong transcription	Fetal Lung	lung
48	chr2:63032800-63034400	Strong transcription	Stomach Smooth Muscle	stomach
49	chr2:63032800-63034600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr2:63032800-63034600	Strong transcription	Liver	Liver

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