Variant report

Variant	rs73298048
Chromosome Location	chr12:32889792-32889793
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF143	chr12:32889767-32889827	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:32885136..32886976-chr12:32889703..32892062,2	K562	blood:
2	chr12:32887002..32890106-chr12:32899506..32902972,4	MCF-7	breast:
3	chr12:32885420..32887065-chr12:32888950..32890805,2	K562	blood:

Variant related genes	Relation type
DNM1L	TF binding region
ENSG00000087470	Chromatin interaction

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

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

rs_ID	r²[population]
rs60066916	1.00[AMR][1000 genomes]
rs73295918	1.00[AMR][1000 genomes]
rs73298091	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73305648	1.00[AMR][1000 genomes]
rs73311054	1.00[AMR][1000 genomes]
rs73311075	1.00[AMR][1000 genomes]
rs73311096	1.00[AMR][1000 genomes]
rs73313069	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530421	chr12:32825335-33465991	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv1051667	chr12:32871860-32919673	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv1042661	chr12:32871860-32928833	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv1050779	chr12:32872999-32921973	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv1054440	chr12:32872999-33150460	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv532334	chr12:32884789-33034791	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32835000-32902600	Weak transcription	Gastric	stomach
2	chr12:32835000-32902800	Weak transcription	Small Intestine	intestine
3	chr12:32851400-32906800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:32853000-32902200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:32859200-32890600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr12:32859600-32895000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr12:32862600-32894200	Weak transcription	Aorta	Aorta
8	chr12:32862600-32896400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr12:32865000-32893000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr12:32865000-32904400	Weak transcription	Stomach Mucosa	stomach
11	chr12:32865400-32892600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr12:32869600-32892800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:32871200-32904600	Strong transcription	Dnd41	blood
14	chr12:32871400-32892200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
15	chr12:32871400-32905800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr12:32871400-32906000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr12:32871400-32906000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr12:32871400-32906000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr12:32871400-32906200	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr12:32871400-32906200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr12:32871400-32906600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:32871400-32906600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr12:32871400-32906800	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr12:32871400-32907000	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr12:32871800-32895400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr12:32875200-32894200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr12:32876800-32906000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr12:32878400-32905600	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr12:32878600-32904600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr12:32878800-32890000	Strong transcription	Primary T cells from cord blood	blood
31	chr12:32878800-32906200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr12:32879000-32906800	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr12:32879200-32906000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr12:32879600-32900600	Weak transcription	Pancreas	Pancrea
35	chr12:32879800-32894200	Weak transcription	Colonic Mucosa	Colon
36	chr12:32879800-32896400	Weak transcription	Fetal Brain Male	brain
37	chr12:32880800-32906800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr12:32881600-32890000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr12:32881600-32890800	Weak transcription	NHLF	lung
40	chr12:32882000-32890600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr12:32882200-32905000	Strong transcription	Duodenum Smooth Muscle	Duodenum
42	chr12:32882600-32890600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
43	chr12:32882800-32906000	Strong transcription	HSMM	muscle
44	chr12:32883400-32889800	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr12:32883400-32891400	Strong transcription	Fetal Intestine Large	intestine
46	chr12:32883400-32906400	Strong transcription	Fetal Thymus	thymus
47	chr12:32883400-32906600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr12:32883400-32907200	Strong transcription	Primary B cells from peripheral blood	blood
49	chr12:32883400-32907200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr12:32883600-32890800	Strong transcription	HUES64 Cell Line	embryonic stem cell

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