Variant report

Variant	rs66554757
Chromosome Location	chr12:104571587-104571588
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:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:104530177..104533540-chr12:104569302..104573926,9	MCF-7	breast:
2	chr12:104571005..104572580-chr12:104577210..104579491,2	MCF-7	breast:
3	chr12:104570809..104571731-chr12:104687793..104688584,2	MCF-7	breast:
4	chr12:104564791..104567133-chr12:104568799..104572664,3	K562	blood:
5	chr12:104570742..104573318-chr12:104574956..104577002,2	K562	blood:
6	chr12:104565973..104567600-chr12:104571102..104573461,2	MCF-7	breast:
7	chr12:104528363..104533397-chr12:104570131..104576145,10	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000120837	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11111911	0.82[AMR][1000 genomes]
rs11111937	1.00[ASN][1000 genomes]
rs11111942	1.00[ASN][1000 genomes]
rs11111969	1.00[ASN][1000 genomes]
rs11112015	1.00[ASN][1000 genomes]
rs12809773	1.00[ASN][1000 genomes]
rs12812451	1.00[ASN][1000 genomes]
rs12813601	1.00[ASN][1000 genomes]
rs12819539	1.00[ASN][1000 genomes]
rs12826196	1.00[ASN][1000 genomes]
rs12828655	1.00[ASN][1000 genomes]
rs34309392	1.00[ASN][1000 genomes]
rs34811234	1.00[ASN][1000 genomes]
rs34863477	1.00[ASN][1000 genomes]
rs35392305	1.00[ASN][1000 genomes]
rs35453744	1.00[ASN][1000 genomes]
rs35473944	1.00[ASN][1000 genomes]
rs35653685	1.00[ASN][1000 genomes]
rs35822062	1.00[ASN][1000 genomes]
rs35844634	1.00[ASN][1000 genomes]
rs35945288	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4964733	1.00[ASN][1000 genomes]
rs4964778	1.00[ASN][1000 genomes]
rs6539127	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71466293	1.00[ASN][1000 genomes]
rs71466302	1.00[ASN][1000 genomes]
rs7294701	1.00[ASN][1000 genomes]
rs7305137	1.00[ASN][1000 genomes]
rs7311508	1.00[ASN][1000 genomes]
rs7313536	1.00[ASN][1000 genomes]
rs7978310	1.00[ASN][1000 genomes]
rs7979945	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045725	chr12:104524153-104614108	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	n/a
2	nsv541586	chr12:104524153-104614108	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	n/a
3	esv1842062	chr12:104531180-104638773	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	n/a
4	nsv899493	chr12:104548613-104703228	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	nsv899494	chr12:104561521-104806232	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104566400-104573400	Weak transcription	Spleen	Spleen
2	chr12:104570000-104573000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr12:104570800-104572400	Flanking Active TSS	A549	lung
4	chr12:104570800-104572600	Enhancers	NHLF	lung
5	chr12:104570800-104572800	Enhancers	Rectal Smooth Muscle	rectum
6	chr12:104571000-104571600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr12:104571000-104571600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr12:104571000-104571600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr12:104571000-104571600	Enhancers	HSMMtube	muscle
10	chr12:104571000-104571600	Enhancers	Osteobl	bone
11	chr12:104571000-104571800	Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr12:104571000-104571800	Enhancers	Lung	lung
13	chr12:104571000-104571800	Enhancers	HUVEC	blood vessel
14	chr12:104571000-104572200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr12:104571000-104572200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr12:104571000-104572200	Enhancers	Adipose Nuclei	Adipose
17	chr12:104571000-104572200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr12:104571000-104572200	Enhancers	Fetal Lung	lung
19	chr12:104571000-104572200	Enhancers	K562	blood
20	chr12:104571000-104572400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr12:104571000-104572400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr12:104571000-104572400	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr12:104571000-104572400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr12:104571000-104572400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr12:104571000-104572400	Enhancers	NH-A	brain
26	chr12:104571000-104572400	Enhancers	NHDF-Ad	bronchial
27	chr12:104571000-104572600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr12:104571000-104572600	Enhancers	Placenta	Placenta
29	chr12:104571000-104572600	Flanking Active TSS	Hela-S3	cervix
30	chr12:104571000-104572600	Enhancers	HMEC	breast
31	chr12:104571000-104573000	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr12:104571000-104573200	Enhancers	Colon Smooth Muscle	Colon
33	chr12:104571000-104576600	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr12:104571200-104572000	Enhancers	NHEK	skin
35	chr12:104571200-104572200	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr12:104571200-104572400	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr12:104571400-104571600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr12:104571400-104571600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr12:104571400-104571600	Enhancers	Muscle Satellite Cultured Cells	--
40	chr12:104571400-104571600	Enhancers	Stomach Smooth Muscle	stomach
41	chr12:104571400-104571600	Enhancers	HSMM	muscle
42	chr12:104571400-104571800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr12:104571400-104571800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr12:104571400-104572200	Enhancers	Fetal Muscle Trunk	muscle
45	chr12:104571400-104572200	Enhancers	Fetal Muscle Leg	muscle
46	chr12:104571400-104572200	Enhancers	Fetal Stomach	stomach
47	chr12:104571400-104572200	Enhancers	Left Ventricle	heart
48	chr12:104571400-104572200	Enhancers	Dnd41	blood

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