Variant report

Variant	rs73053342
Chromosome Location	chr12:12261723-12261724
allele	C/T
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	SETDB1	chr12:12261390-12262033	U2OS	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000198134	TF binding region

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs73053329	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73053331	1.00[AFR][1000 genomes]
rs73053334	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73053336	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs73053337	1.00[AFR][1000 genomes];1.00[AMR][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	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv976579	chr12:12253001-12266723	Strong transcription Weak transcription ZNF genes & repeats Active TSS Enhancers	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
3	nsv528912	chr12:12253591-12266041	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS	TF binding region CpG island Chromatin interactive region miRNA	2 gene(s)	inside rSNPs	diseases
4	nsv529005	chr12:12254756-12412795	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12235400-12278800	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr12:12241000-12273400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr12:12241400-12272600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr12:12245800-12263800	Weak transcription	Pancreas	Pancrea
5	chr12:12245800-12266200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:12246400-12272000	Weak transcription	Osteobl	bone
7	chr12:12248200-12271800	Weak transcription	Fetal Kidney	kidney
8	chr12:12252800-12276200	Weak transcription	Fetal Heart	heart
9	chr12:12257200-12262400	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr12:12258200-12274000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr12:12260400-12261800	ZNF genes & repeats	Brain Germinal Matrix	brain
12	chr12:12260400-12262000	Strong transcription	A549	lung
13	chr12:12260400-12262200	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
14	chr12:12260400-12262400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:12260400-12262600	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr12:12260400-12262800	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
17	chr12:12260400-12263200	ZNF genes & repeats	Fetal Intestine Small	intestine
18	chr12:12260600-12261800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr12:12260600-12262400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr12:12260800-12262600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
21	chr12:12260800-12265800	Weak transcription	Fetal Muscle Trunk	muscle
22	chr12:12260800-12273400	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr12:12260800-12276000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr12:12260800-12277000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr12:12261000-12263800	Weak transcription	Lung	lung
26	chr12:12261000-12271400	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr12:12261000-12276800	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr12:12261200-12268800	Weak transcription	HSMM	muscle
29	chr12:12261200-12273000	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr12:12261200-12273400	Weak transcription	HSMMtube	muscle
31	chr12:12261200-12274000	Weak transcription	Ovary	ovary
32	chr12:12261200-12277000	Weak transcription	Hela-S3	cervix
33	chr12:12261400-12261800	ZNF genes & repeats	Primary T cells from cord blood	blood
34	chr12:12261400-12261800	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
35	chr12:12261400-12262000	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr12:12261400-12263800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr12:12261400-12275800	Weak transcription	NH-A	brain
38	chr12:12261600-12301400	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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