Variant report

Variant	rs4522249
Chromosome Location	chr12:104574010-104574011
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:104571599..104574180-chr12:104689003..104690549,2	MCF-7	breast:
2	chr12:104571824..104574318-chr12:104580582..104582719,2	MCF-7	breast:
3	chr12:104566313..104569865-chr12:104572688..104576807,3	K562	blood:
4	chr12:104528363..104533397-chr12:104570131..104576145,10	MCF-7	breast:

Variant related genes	Relation type
ENSG00000120837	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11111916	0.87[ASN][1000 genomes]
rs11111917	0.87[ASN][1000 genomes]
rs11613944	0.87[ASN][1000 genomes]
rs11829709	0.84[ASN][1000 genomes]
rs11836726	0.84[ASN][1000 genomes]
rs4246260	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4246261	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4321026	0.81[ASN][1000 genomes]
rs4371000	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4964626	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4964628	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4964678	0.81[ASN][1000 genomes]
rs61939220	0.87[ASN][1000 genomes]
rs7297296	0.81[ASN][1000 genomes]
rs7957744	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7961381	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7966970	0.81[ASN][1000 genomes]
rs7969538	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7972172	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9668556	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs9705582	0.82[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:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104571000-104576600	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr12:104572200-104574200	Weak transcription	Aorta	Aorta
3	chr12:104572200-104574400	Weak transcription	Adipose Nuclei	Adipose
4	chr12:104572200-104574400	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr12:104572200-104574400	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr12:104572200-104574800	Weak transcription	Fetal Muscle Leg	muscle
7	chr12:104572200-104575200	Weak transcription	Fetal Lung	lung
8	chr12:104572200-104575600	Weak transcription	Fetal Muscle Trunk	muscle
9	chr12:104572200-104575800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr12:104572200-104576000	Weak transcription	Right Atrium	heart
11	chr12:104572400-104574600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr12:104572400-104574600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr12:104572400-104575000	Weak transcription	NH-A	brain
14	chr12:104572400-104575000	Weak transcription	NHDF-Ad	bronchial
15	chr12:104572400-104575200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr12:104572400-104576000	Weak transcription	Ovary	ovary
17	chr12:104572600-104574200	Weak transcription	HMEC	breast
18	chr12:104572600-104574200	Weak transcription	NHLF	lung
19	chr12:104572600-104574800	Weak transcription	Placenta	Placenta
20	chr12:104572600-104575200	Weak transcription	HSMMtube	muscle
21	chr12:104572600-104576200	Weak transcription	Psoas Muscle	Psoas
22	chr12:104572800-104574200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr12:104572800-104574200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr12:104572800-104574200	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr12:104572800-104574200	Weak transcription	Osteobl	bone
26	chr12:104572800-104574400	Weak transcription	Rectal Smooth Muscle	rectum
27	chr12:104573600-104575400	Flanking Active TSS	A549	lung
28	chr12:104573600-104576800	Enhancers	Colon Smooth Muscle	Colon
29	chr12:104573800-104575400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr12:104574000-104574400	Enhancers	Stomach Smooth Muscle	stomach
31	chr12:104574000-104574800	Enhancers	Hela-S3	cervix
32	chr12:104574000-104576800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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