Variant report

Variant	rs4132934
Chromosome Location	chr12:122606176-122606177
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:122500507..122502727-chr12:122605143..122608025,2	MCF-7	breast:
2	chr12:122515031..122519836-chr12:122606166..122610448,7	MCF-7	breast:
3	chr12:122515416..122518266-chr12:122602953..122606847,3	MCF-7	breast:
4	chr12:122601548..122603416-chr12:122604759..122607600,2	K562	blood:
5	chr12:122605515..122608004-chr12:122687197..122689852,2	MCF-7	breast:
6	chr12:122491108..122493990-chr12:122605278..122608052,2	K562	blood:
7	chr12:122500849..122505049-chr12:122602571..122607849,6	K562	blood:
8	chr12:122492379..122495152-chr12:122604029..122610434,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000175727	Chromatin interaction
ENSG00000256546	Chromatin interaction
ENSG00000176383	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10847611	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10847853	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11061610	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11558336	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12368387	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28731286	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35946342	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4758655	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4758684	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56263064	0.82[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	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv899569	chr12:122478728-122630909	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv527450	chr12:122481290-122676531	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122583200-122612200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr12:122583800-122607600	Weak transcription	Fetal Brain Female	brain
3	chr12:122584200-122622000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:122592200-122611800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr12:122593400-122607600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr12:122593600-122606200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr12:122593600-122606200	Weak transcription	HUVEC	blood vessel
8	chr12:122593600-122607600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr12:122593600-122607600	Weak transcription	NHLF	lung
10	chr12:122594600-122607600	Weak transcription	Left Ventricle	heart
11	chr12:122596200-122606600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr12:122596200-122607800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr12:122596800-122606200	Weak transcription	Osteobl	bone
14	chr12:122596800-122607600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr12:122596800-122607600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr12:122597600-122607600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr12:122598200-122607600	Weak transcription	Placenta	Placenta
18	chr12:122599000-122607600	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr12:122599000-122614400	Weak transcription	Fetal Kidney	kidney
20	chr12:122599200-122606400	Weak transcription	Right Atrium	heart
21	chr12:122599200-122607600	Weak transcription	HepG2	liver
22	chr12:122599200-122607600	Weak transcription	NHEK	skin
23	chr12:122599200-122612200	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr12:122599400-122606200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:122600600-122612400	Weak transcription	Aorta	Aorta
26	chr12:122601400-122607600	Weak transcription	Right Ventricle	heart
27	chr12:122601800-122606200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr12:122601800-122607400	Weak transcription	Esophagus	oesophagus
29	chr12:122602000-122606200	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr12:122602000-122606400	Weak transcription	Fetal Muscle Leg	muscle
31	chr12:122602000-122606800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr12:122602000-122607400	Weak transcription	Fetal Intestine Large	intestine
33	chr12:122602000-122607600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr12:122602200-122606400	Weak transcription	Spleen	Spleen
35	chr12:122602200-122607600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr12:122602600-122607400	Weak transcription	Dnd41	blood
37	chr12:122602600-122607600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr12:122602800-122606200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr12:122602800-122606200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr12:122602800-122607400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr12:122602800-122607600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr12:122602800-122607600	Weak transcription	Brain Germinal Matrix	brain
43	chr12:122603000-122606200	Weak transcription	Brain Hippocampus Middle	brain
44	chr12:122603000-122606200	Weak transcription	Fetal Lung	lung
45	chr12:122603000-122606200	Weak transcription	Fetal Stomach	stomach
46	chr12:122603000-122606200	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr12:122603000-122606200	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr12:122603000-122606200	Weak transcription	A549	lung
49	chr12:122603000-122606800	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr12:122603000-122607400	Weak transcription	Primary monocytes fromperipheralblood	blood

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