Variant report

Variant	rs73217996
Chromosome Location	chr12:118542863-118542864
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:117627165..117629540-chr12:118540302..118543294,2	MCF-7	breast:
2	chr12:118497389..118502867-chr12:118535601..118543920,23	MCF-7	breast:
3	chr12:118500316..118502003-chr12:118542187..118545128,2	K562	blood:
4	chr12:118540506..118543698-chr12:118572832..118575450,7	MCF-7	breast:
5	chr12:118498416..118504096-chr12:118537510..118543393,12	MCF-7	breast:

Variant related genes	Relation type
ENSG00000089220	Chromatin interaction
ENSG00000176871	Chromatin interaction
ENSG00000176834	Chromatin interaction
ENSG00000135108	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12423154	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12423959	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2017414	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2936840	0.82[ASN][1000 genomes]
rs3847652	0.92[ASN][1000 genomes]
rs56070243	0.86[ASN][1000 genomes]
rs61943518	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61943519	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61943521	0.90[ASN][1000 genomes]
rs7956285	0.90[ASN][1000 genomes]
rs7961197	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7970036	0.87[ASN][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	nsv1053785	chr12:118490955-118874194	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv560389	chr12:118502467-118564087	Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv899546	chr12:118515230-118563982	Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	n/a
4	esv3357072	chr12:118540094-118543142	Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118542400-118543000	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
2	chr12:118542400-118543600	Enhancers	Placenta	Placenta
3	chr12:118542400-118544800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:118542400-118546000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:118542400-118552600	Weak transcription	Fetal Brain Female	brain
6	chr12:118542400-118552800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr12:118542400-118553600	Weak transcription	Pancreas	Pancrea
8	chr12:118542400-118553800	Weak transcription	Liver	Liver
9	chr12:118542400-118554600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:118542400-118556600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:118542400-118558400	Weak transcription	Brain Angular Gyrus	brain
12	chr12:118542400-118558400	Weak transcription	Brain Anterior Caudate	brain
13	chr12:118542400-118558400	Weak transcription	Brain Hippocampus Middle	brain
14	chr12:118542400-118558400	Weak transcription	Fetal Kidney	kidney
15	chr12:118542400-118558800	Weak transcription	Colon Smooth Muscle	Colon
16	chr12:118542400-118559200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr12:118542400-118562400	Weak transcription	Fetal Muscle Leg	muscle
18	chr12:118542400-118569400	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr12:118542600-118543000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr12:118542600-118543000	Enhancers	Dnd41	blood
21	chr12:118542600-118543600	Weak transcription	Hela-S3	cervix
22	chr12:118542600-118544800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr12:118542600-118544800	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr12:118542600-118544800	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr12:118542600-118544800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr12:118542600-118544800	Weak transcription	Duodenum Mucosa	Duodenum
27	chr12:118542600-118544800	Weak transcription	HepG2	liver
28	chr12:118542600-118545000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr12:118542600-118545000	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr12:118542600-118545000	Weak transcription	Stomach Mucosa	stomach
31	chr12:118542600-118545200	Weak transcription	Fetal Intestine Large	intestine
32	chr12:118542600-118545600	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr12:118542600-118546000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr12:118542600-118546200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr12:118542600-118546200	Weak transcription	Fetal Intestine Small	intestine
36	chr12:118542600-118552600	Weak transcription	Stomach Smooth Muscle	stomach
37	chr12:118542600-118552600	Weak transcription	A549	lung
38	chr12:118542600-118552800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr12:118542600-118553600	Weak transcription	Brain Cingulate Gyrus	brain
40	chr12:118542600-118558400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr12:118542600-118558400	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr12:118542600-118558400	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr12:118542600-118558400	Weak transcription	NHEK	skin
44	chr12:118542600-118569400	Weak transcription	Fetal Muscle Trunk	muscle
45	chr12:118542600-118572800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr12:118542600-118573400	Weak transcription	Primary T cells from cord blood	blood
47	chr12:118542800-118543000	Enhancers	Primary T helper naive cells from peripheral blood	blood

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