Variant report

Variant	rs58789572
Chromosome Location	chr12:48242923-48242924
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:48213402..48216176-chr12:48242729..48245369,3	K562	blood:
2	chr12:48242132..48243727-chr12:48246176..48248080,2	K562	blood:
3	chr12:48233637..48235954-chr12:48241553..48243456,2	K562	blood:

Variant related genes	Relation type
ENSG00000061273	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11574099	0.80[EUR][1000 genomes]
rs11574103	0.90[EUR][1000 genomes]
rs11574114	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11574119	0.87[EUR][1000 genomes]
rs11574139	0.90[EUR][1000 genomes]
rs2853563	0.97[EUR][1000 genomes]
rs3858733	0.90[EUR][1000 genomes]
rs55748765	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	nsv1036804	chr12:48114026-48287048	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
2	nsv1052034	chr12:48146633-48287048	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
3	nsv1048466	chr12:48195350-48262541	Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
4	nsv541488	chr12:48195350-48262541	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48227200-48261200	Weak transcription	HSMM	muscle
2	chr12:48231400-48261400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr12:48232200-48253000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr12:48232400-48263800	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr12:48232400-48276600	Weak transcription	Pancreas	Pancrea
6	chr12:48233000-48275200	Weak transcription	Hela-S3	cervix
7	chr12:48234600-48252400	Weak transcription	Stomach Mucosa	stomach
8	chr12:48236400-48252000	Strong transcription	Fetal Intestine Small	intestine
9	chr12:48236600-48243400	Strong transcription	HSMMtube	muscle
10	chr12:48236600-48259400	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr12:48237000-48246800	Strong transcription	Rectal Mucosa Donor 31	rectum
12	chr12:48237000-48252200	Strong transcription	Duodenum Mucosa	Duodenum
13	chr12:48237000-48253200	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr12:48237000-48259000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr12:48237000-48261800	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr12:48237400-48246400	Strong transcription	Sigmoid Colon	Sigmoid Colon
17	chr12:48237400-48252600	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr12:48237400-48261200	Weak transcription	NH-A	brain
19	chr12:48237800-48243200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr12:48238400-48244200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:48238400-48244600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr12:48238600-48244200	Weak transcription	Fetal Lung	lung
23	chr12:48238600-48253400	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr12:48239000-48245600	Weak transcription	Right Atrium	heart
25	chr12:48239200-48244400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr12:48239600-48244200	Weak transcription	Fetal Muscle Trunk	muscle
27	chr12:48239600-48245600	Weak transcription	Adipose Nuclei	Adipose
28	chr12:48239600-48245600	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr12:48240000-48261200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr12:48240400-48247600	Weak transcription	Fetal Intestine Large	intestine
31	chr12:48240400-48250600	Weak transcription	Aorta	Aorta
32	chr12:48240600-48244200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr12:48240600-48244200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr12:48240600-48244200	Weak transcription	NHLF	lung
35	chr12:48240600-48244400	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr12:48240600-48244400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr12:48240600-48244400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr12:48240600-48244400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr12:48240600-48244800	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr12:48240600-48250600	Weak transcription	NHDF-Ad	bronchial
41	chr12:48240800-48244200	Weak transcription	Spleen	Spleen
42	chr12:48240800-48244400	Weak transcription	Esophagus	oesophagus
43	chr12:48240800-48250600	Weak transcription	Gastric	stomach
44	chr12:48241000-48244000	Weak transcription	Osteobl	bone
45	chr12:48241000-48244200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr12:48241000-48244200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr12:48241200-48244200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr12:48241200-48244400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr12:48241200-48245000	Weak transcription	Small Intestine	intestine
50	chr12:48241200-48263800	Weak transcription	Rectal Smooth Muscle	rectum

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