Variant report

Variant	rs73386107
Chromosome Location	chr12:104238021-104238022
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	GATA3	chr12:104237921-104238574	SK-N-SH	brain:	n/a	n/a
2	PBX3	chr12:104237985-104238549	SK-N-SH	brain:	n/a	n/a
3	POLR2A	chr12:104238003-104238300	SK-N-SH	brain:	n/a	n/a
4	TCF12	chr12:104237835-104238601	SK-N-SH	brain:	n/a	chr12:104238465-104238473
5	GATA3	chr12:104237817-104238609	SK-N-SH	brain:	n/a	n/a
6	PBX3	chr12:104237941-104238629	SK-N-SH	brain:	n/a	n/a
7	TCF12	chr12:104237938-104238606	SK-N-SH	brain:	n/a	chr12:104238465-104238473

No.	Distal block	Cell Line	Cell type
1	chr12:104192525..104200371-chr12:104233987..104238967,10	MCF-7	breast:
2	chr12:104233909..104239694-chr12:104322835..104327398,8	K562	blood:
3	chr12:104234122..104238773-chr12:104347839..104352988,5	MCF-7	breast:

Variant related genes	Relation type
NT5DC3	TF binding region
ENSG00000214198	Chromatin interaction
ENSG00000204954	Chromatin interaction
ENSG00000111696	Chromatin interaction
ENSG00000166598	Chromatin interaction
ENSG00000265072	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2374286	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs58470973	1.00[AMR][1000 genomes]
rs61394964	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73386110	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73386111	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73386115	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73386118	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73386186	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34031	chr12:104114277-104298546	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	nsv560039	chr12:104177668-104455340	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104236000-104240800	Weak transcription	NHDF-Ad	bronchial
2	chr12:104236000-104242000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:104236000-104242000	Weak transcription	Pancreas	Pancrea
4	chr12:104236000-104242800	Weak transcription	Aorta	Aorta
5	chr12:104236000-104243000	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr12:104236000-104245000	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr12:104236000-104252600	Weak transcription	Esophagus	oesophagus
8	chr12:104236000-104252600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr12:104236000-104253600	Weak transcription	Gastric	stomach
10	chr12:104236200-104238200	Weak transcription	HSMMtube	muscle
11	chr12:104236200-104240000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr12:104236200-104240000	Weak transcription	Rectal Smooth Muscle	rectum
13	chr12:104236200-104241200	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr12:104236200-104242000	Weak transcription	Fetal Lung	lung
15	chr12:104236200-104242400	Weak transcription	Stomach Smooth Muscle	stomach
16	chr12:104236200-104246400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr12:104236400-104245000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr12:104236400-104246000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr12:104236600-104241400	Weak transcription	Liver	Liver
20	chr12:104236600-104248400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr12:104236800-104238400	Enhancers	Fetal Intestine Small	intestine
22	chr12:104237000-104242000	Weak transcription	A549	lung
23	chr12:104237600-104238200	Enhancers	Fetal Intestine Large	intestine
24	chr12:104237600-104238400	Enhancers	Colon Smooth Muscle	Colon
25	chr12:104237600-104238400	Enhancers	Duodenum Mucosa	Duodenum
26	chr12:104237600-104238400	Enhancers	Fetal Heart	heart
27	chr12:104237600-104238400	Enhancers	Small Intestine	intestine
28	chr12:104238000-104238200	Enhancers	Psoas Muscle	Psoas

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