Variant report

Variant	rs58728495
Chromosome Location	chr2:172251177-172251178
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	chr2:172251047..172252605-chr2:172289597..172292049,2	K562	blood:

Variant related genes	Relation type
ENSG00000123600	Chromatin interaction
ENSG00000115827	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs57396064	0.83[AMR][1000 genomes]
rs59745257	0.83[AMR][1000 genomes]
rs60087352	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs60100357	0.83[AMR][1000 genomes]
rs60925959	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs73021081	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs73022904	0.83[AMR][1000 genomes]
rs73022907	0.83[AMR][1000 genomes]
rs73022909	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73022911	0.88[AFR][1000 genomes];1.00[AMR][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	esv3382346	chr2:172062677-172363892	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172222200-172289600	Weak transcription	Gastric	stomach
2	chr2:172232000-172253200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:172237800-172254400	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr2:172238000-172272400	Weak transcription	Fetal Intestine Large	intestine
5	chr2:172238800-172272400	Weak transcription	Primary T cells from cord blood	blood
6	chr2:172239200-172257400	Weak transcription	K562	blood
7	chr2:172243600-172253400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:172243800-172257800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr2:172244000-172257800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:172245600-172251800	Weak transcription	Dnd41	blood
11	chr2:172246800-172255400	Weak transcription	Primary B cells from peripheral blood	blood
12	chr2:172247200-172254200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr2:172248000-172266000	Weak transcription	Left Ventricle	heart
14	chr2:172248200-172257600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr2:172248200-172258000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr2:172248400-172257000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:172248400-172258000	Weak transcription	NHEK	skin
18	chr2:172248400-172258400	Weak transcription	HSMM	muscle
19	chr2:172248400-172259600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:172248400-172259600	Weak transcription	Hela-S3	cervix
21	chr2:172248600-172251400	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr2:172248600-172265400	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr2:172248800-172251600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr2:172248800-172258000	Weak transcription	A549	lung
25	chr2:172249000-172251800	Weak transcription	HUVEC	blood vessel
26	chr2:172249000-172258400	Weak transcription	HepG2	liver
27	chr2:172249000-172259200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr2:172250000-172251600	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr2:172250000-172252600	Enhancers	GM12878-XiMat	blood
30	chr2:172250000-172253800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr2:172250200-172251600	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr2:172250200-172251600	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr2:172250200-172252000	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr2:172250200-172252400	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr2:172250400-172251600	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr2:172250600-172251400	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr2:172250800-172255800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr2:172251000-172251200	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr2:172251000-172251400	Enhancers	HSMMtube	muscle

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