Variant report

Variant	rs2525045
Chromosome Location	chr12:48233020-48233021
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:48230667..48234164-chr12:48234323..48236614,4	K562	blood:
2	chr12:48099579..48101326-chr12:48230856..48233090,2	MCF-7	breast:
3	chr12:48104937..48107599-chr12:48231924..48234186,2	MCF-7	breast:
4	chr12:48165555..48170415-chr12:48229501..48233839,5	MCF-7	breast:
5	chr12:48213470..48214303-chr12:48232552..48233213,2	Hela-S3	cervix:
6	chr12:48106768..48111603-chr12:48228919..48235371,6	MCF-7	breast:
7	chr12:48108389..48110707-chr12:48231215..48233864,2	MCF-7	breast:
8	chr12:48166676..48168684-chr12:48231440..48234079,3	MCF-7	breast:
9	chr12:48108449..48110795-chr12:48232871..48234613,2	K562	blood:
10	chr12:48115974..48118719-chr12:48231014..48233815,2	K562	blood:
11	chr12:48135936..48138015-chr12:48231134..48233301,2	K562	blood:
12	chr12:48135747..48136641-chr12:48232110..48233174,4	MCF-7	breast:
13	chr12:48134749..48137790-chr12:48230640..48234906,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000079337	Chromatin interaction
ENSG00000257433	Chromatin interaction
ENSG00000061273	Chromatin interaction
ENSG00000111405	Chromatin interaction
ENSG00000211584	Chromatin interaction
ENSG00000005175	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11574146	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2853563	1.00[LWK][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes]
rs7134842	1.00[MEX][hapmap]
rs7308119	1.00[MEX][hapmap]
rs7954412	1.00[MEX][hapmap]
rs7967673	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051941	chr12:48114026-48233128	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	75 gene(s)	inside rSNPs	diseases
2	nsv541487	chr12:48114026-48233128	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	75 gene(s)	inside rSNPs	diseases
3	nsv1036804	chr12:48114026-48287048	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
4	nsv1052034	chr12:48146633-48287048	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
5	nsv1048466	chr12:48195350-48262541	Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
6	nsv541488	chr12:48195350-48262541	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48223400-48236800	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr12:48223400-48237000	Weak transcription	Colonic Mucosa	Colon
3	chr12:48223600-48237000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr12:48223600-48238600	Weak transcription	Right Atrium	heart
5	chr12:48223600-48239800	Weak transcription	Gastric	stomach
6	chr12:48224200-48238400	Weak transcription	NHDF-Ad	bronchial
7	chr12:48224600-48238000	Weak transcription	Esophagus	oesophagus
8	chr12:48227000-48233800	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr12:48227200-48261200	Weak transcription	HSMM	muscle
10	chr12:48227600-48237400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr12:48227800-48233400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr12:48229000-48237200	Weak transcription	Lung	lung
13	chr12:48229000-48237200	Weak transcription	Spleen	Spleen
14	chr12:48229800-48236600	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr12:48229800-48237400	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr12:48229800-48240200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr12:48230000-48233400	Enhancers	Fetal Thymus	thymus
18	chr12:48230000-48233800	Enhancers	K562	blood
19	chr12:48230000-48235400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr12:48230000-48235600	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr12:48230000-48236600	Weak transcription	HSMMtube	muscle
22	chr12:48230000-48237000	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr12:48230000-48237600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:48230400-48235800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr12:48230600-48235800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr12:48230800-48233800	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr12:48231000-48233800	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr12:48231400-48233600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr12:48231400-48236200	Enhancers	Fetal Muscle Leg	muscle
30	chr12:48231400-48261400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr12:48231600-48233200	Enhancers	Thymus	Thymus
32	chr12:48231600-48233600	Enhancers	Fetal Muscle Trunk	muscle
33	chr12:48231600-48235200	Weak transcription	Fetal Kidney	kidney
34	chr12:48231600-48237000	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr12:48231600-48237000	Weak transcription	HMEC	breast
36	chr12:48231800-48236000	Weak transcription	NHEK	skin
37	chr12:48231800-48237000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr12:48231800-48239000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr12:48232000-48233400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr12:48232200-48233200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr12:48232200-48253000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr12:48232400-48233200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr12:48232400-48234800	Weak transcription	Stomach Smooth Muscle	stomach
44	chr12:48232400-48237400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr12:48232400-48238200	Weak transcription	Aorta	Aorta
46	chr12:48232400-48263800	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr12:48232400-48276600	Weak transcription	Pancreas	Pancrea
48	chr12:48232600-48233400	Enhancers	Psoas Muscle	Psoas
49	chr12:48232800-48233200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr12:48232800-48233200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin

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