Variant report

Variant	rs60575419
Chromosome Location	chr2:63031015-63031016
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:63022334..63025310-chr2:63029781..63031632,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11897498	0.84[AFR][1000 genomes]
rs17577380	0.81[AFR][1000 genomes]
rs2102517	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6744226	0.81[AFR][1000 genomes]
rs67789268	0.81[AFR][1000 genomes]
rs72807574	0.90[AFR][1000 genomes]
rs72888917	0.82[AFR][1000 genomes]
rs72888944	0.87[AFR][1000 genomes]
rs72888951	0.89[AFR][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:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:62982200-63033400	Weak transcription	Fetal Intestine Large	intestine
2	chr2:63010800-63032800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr2:63017000-63032600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr2:63017000-63033400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:63017000-63037400	Weak transcription	NHLF	lung
6	chr2:63017400-63032800	Weak transcription	Stomach Smooth Muscle	stomach
7	chr2:63017400-63049400	Weak transcription	Fetal Heart	heart
8	chr2:63018200-63033400	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr2:63019600-63043400	Weak transcription	Brain Angular Gyrus	brain
10	chr2:63020600-63082000	Weak transcription	Pancreas	Pancrea
11	chr2:63020800-63040200	Weak transcription	Left Ventricle	heart
12	chr2:63022400-63040400	Weak transcription	NHEK	skin
13	chr2:63022400-63041000	Weak transcription	HSMM	muscle
14	chr2:63022600-63031800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr2:63022600-63032800	Weak transcription	Fetal Intestine Small	intestine
16	chr2:63022800-63032000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:63022800-63032800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr2:63022800-63032800	Weak transcription	Fetal Lung	lung
19	chr2:63022800-63033000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:63022800-63034400	Weak transcription	Primary B cells from cord blood	blood
21	chr2:63022800-63035800	Weak transcription	Fetal Kidney	kidney
22	chr2:63023800-63049000	Weak transcription	Rectal Smooth Muscle	rectum
23	chr2:63024000-63032800	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr2:63026200-63034200	Strong transcription	HepG2	liver
25	chr2:63027400-63032800	Weak transcription	Primary T cells from cord blood	blood
26	chr2:63028000-63037600	Weak transcription	Colon Smooth Muscle	Colon
27	chr2:63028600-63032600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr2:63028600-63033000	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr2:63028600-63063400	Weak transcription	Brain Substantia Nigra	brain
30	chr2:63029400-63031200	Weak transcription	A549	lung
31	chr2:63029400-63032600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr2:63029400-63033600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr2:63029600-63032000	Weak transcription	NHDF-Ad	bronchial
34	chr2:63029600-63032800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr2:63029600-63032800	Weak transcription	Liver	Liver
36	chr2:63029600-63033000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr2:63029600-63033000	Weak transcription	Adipose Nuclei	Adipose
38	chr2:63029600-63033200	Weak transcription	Ovary	ovary
39	chr2:63029600-63033600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr2:63029600-63033600	Weak transcription	Fetal Thymus	thymus
41	chr2:63029600-63034800	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr2:63029600-63040600	Weak transcription	HMEC	breast
43	chr2:63030000-63033600	Weak transcription	GM12878-XiMat	blood
44	chr2:63030200-63032800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr2:63030400-63032200	Enhancers	Dnd41	blood
46	chr2:63030400-63032600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr2:63030400-63032800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr2:63030600-63031200	Enhancers	Osteobl	bone
49	chr2:63030600-63032600	Weak transcription	Fetal Stomach	stomach
50	chr2:63030800-63032000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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