Variant report

Variant	rs4132932
Chromosome Location	chr12:122605923-122605924
allele	C/T
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	chr12:122515416..122518266-chr12:122602953..122606847,3	MCF-7	breast:
3	chr12:122601548..122603416-chr12:122604759..122607600,2	K562	blood:
4	chr12:122601261..122606063-chr12:122607168..122609213,4	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
ENSG00000256546	Chromatin interaction
ENSG00000175727	Chromatin interaction
ENSG00000176383	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1043763	0.83[EUR][1000 genomes]
rs1043764	0.83[EUR][1000 genomes]
rs10847689	0.83[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs11043307	0.85[EUR][1000 genomes]
rs11057403	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11061153	0.90[EUR][1000 genomes]
rs12299752	0.91[AFR][1000 genomes];0.99[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12314700	0.84[EUR][1000 genomes]
rs2017594	0.87[EUR][1000 genomes]
rs28384349	0.84[EUR][1000 genomes]
rs28478029	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28622891	0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28643366	0.90[EUR][1000 genomes]
rs28707600	0.89[AFR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs36045144	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3741452	0.89[EUR][1000 genomes]
rs4075625	0.84[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs4132933	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4758689	0.84[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs73217773	0.99[EUR][1000 genomes]
rs73219860	0.90[EUR][1000 genomes]
rs9668430	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.80[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	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	chr12:122591000-122606000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr12:122592200-122611800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr12:122593400-122607600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr12:122593600-122606200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr12:122593600-122606200	Weak transcription	HUVEC	blood vessel
9	chr12:122593600-122607600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr12:122593600-122607600	Weak transcription	NHLF	lung
11	chr12:122594600-122607600	Weak transcription	Left Ventricle	heart
12	chr12:122596200-122606600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr12:122596200-122607800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr12:122596800-122606200	Weak transcription	Osteobl	bone
15	chr12:122596800-122607600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr12:122596800-122607600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr12:122597600-122607600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr12:122598200-122607600	Weak transcription	Placenta	Placenta
19	chr12:122599000-122607600	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr12:122599000-122614400	Weak transcription	Fetal Kidney	kidney
21	chr12:122599200-122606000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr12:122599200-122606400	Weak transcription	Right Atrium	heart
23	chr12:122599200-122607600	Weak transcription	HepG2	liver
24	chr12:122599200-122607600	Weak transcription	NHEK	skin
25	chr12:122599200-122612200	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr12:122599400-122606200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr12:122600600-122612400	Weak transcription	Aorta	Aorta
28	chr12:122601400-122607600	Weak transcription	Right Ventricle	heart
29	chr12:122601800-122606000	Weak transcription	Adipose Nuclei	Adipose
30	chr12:122601800-122606200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr12:122601800-122607400	Weak transcription	Esophagus	oesophagus
32	chr12:122602000-122606000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr12:122602000-122606200	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr12:122602000-122606400	Weak transcription	Fetal Muscle Leg	muscle
35	chr12:122602000-122606800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr12:122602000-122607400	Weak transcription	Fetal Intestine Large	intestine
37	chr12:122602000-122607600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr12:122602200-122606000	Weak transcription	Thymus	Thymus
39	chr12:122602200-122606400	Weak transcription	Spleen	Spleen
40	chr12:122602200-122607600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr12:122602600-122607400	Weak transcription	Dnd41	blood
42	chr12:122602600-122607600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr12:122602800-122606000	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr12:122602800-122606000	Weak transcription	Fetal Thymus	thymus
45	chr12:122602800-122606000	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr12:122602800-122606000	Weak transcription	Stomach Smooth Muscle	stomach
47	chr12:122602800-122606200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr12:122602800-122606200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr12:122602800-122607400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr12:122602800-122607600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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