Variant report

Variant	rs61497238
Chromosome Location	chr12:104575231-104575232
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:104570742..104573318-chr12:104574956..104577002,2	K562	blood:
2	chr12:104566313..104569865-chr12:104572688..104576807,3	K562	blood:
3	chr12:104530299..104532759-chr12:104575223..104579205,3	MCF-7	breast:
4	chr12:104528363..104533397-chr12:104570131..104576145,10	MCF-7	breast:

Variant related genes	Relation type
ENSG00000120837	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10861174	0.94[ASN][1000 genomes]
rs11111948	0.88[ASN][1000 genomes]
rs11111949	0.88[ASN][1000 genomes]
rs11832165	1.00[ASN][1000 genomes]
rs11832923	0.88[ASN][1000 genomes]
rs11833441	1.00[ASN][1000 genomes]
rs11838096	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11838099	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12299988	0.88[ASN][1000 genomes]
rs12312443	0.88[ASN][1000 genomes]
rs17035284	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17806577	0.94[ASN][1000 genomes]
rs28651552	0.82[ASN][1000 genomes]
rs41453549	0.88[ASN][1000 genomes]
rs56406045	0.82[ASN][1000 genomes]
rs57036458	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57066809	1.00[EUR][1000 genomes]
rs58420147	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59097029	0.94[ASN][1000 genomes]
rs59259947	0.88[ASN][1000 genomes]
rs60333117	0.88[ASN][1000 genomes]
rs61109788	0.88[ASN][1000 genomes]
rs61116111	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61234792	0.94[ASN][1000 genomes]
rs61485460	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61665972	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7313573	0.94[ASN][1000 genomes]
rs7979713	0.87[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:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104571000-104576600	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr12:104572200-104575600	Weak transcription	Fetal Muscle Trunk	muscle
3	chr12:104572200-104575800	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr12:104572200-104576000	Weak transcription	Right Atrium	heart
5	chr12:104572400-104576000	Weak transcription	Ovary	ovary
6	chr12:104572600-104576200	Weak transcription	Psoas Muscle	Psoas
7	chr12:104573600-104575400	Flanking Active TSS	A549	lung
8	chr12:104573600-104576800	Enhancers	Colon Smooth Muscle	Colon
9	chr12:104573800-104575400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr12:104574000-104576800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr12:104574200-104575800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr12:104574200-104576600	Enhancers	HMEC	breast
13	chr12:104574200-104576800	Enhancers	Muscle Satellite Cultured Cells	--
14	chr12:104574200-104576800	Enhancers	NHLF	lung
15	chr12:104574200-104577000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr12:104574200-104577000	Enhancers	Osteobl	bone
17	chr12:104574400-104576400	Enhancers	Duodenum Smooth Muscle	Duodenum
18	chr12:104574400-104576400	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr12:104574400-104576800	Enhancers	Rectal Smooth Muscle	rectum
20	chr12:104574400-104577000	Enhancers	Adipose Nuclei	Adipose
21	chr12:104574600-104575400	Weak transcription	Aorta	Aorta
22	chr12:104574600-104576600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr12:104574600-104576600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr12:104574800-104576400	Enhancers	Fetal Muscle Leg	muscle
25	chr12:104574800-104576800	Enhancers	Placenta	Placenta
26	chr12:104575000-104575400	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chr12:104575000-104575800	Enhancers	Stomach Smooth Muscle	stomach
28	chr12:104575000-104576200	Enhancers	NH-A	brain
29	chr12:104575000-104576600	Enhancers	NHDF-Ad	bronchial
30	chr12:104575000-104577400	Enhancers	Pancreas	Pancrea
31	chr12:104575200-104575400	Enhancers	Fetal Lung	lung
32	chr12:104575200-104576000	Enhancers	Hela-S3	cervix
33	chr12:104575200-104576400	Enhancers	HSMMtube	muscle
34	chr12:104575200-104576800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr12:104575200-104576800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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