Variant report

Variant	rs12303070
Chromosome Location	chr12:122933992-122933993
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:122906669..122909024-chr12:122932310..122934097,2	MCF-7	breast:
2	chr12:122904517..122908948-chr12:122931200..122935714,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000130779	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs12297174	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12297513	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12300062	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12303304	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12305053	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12312090	1.00[AMR][1000 genomes]
rs12314651	1.00[AMR][1000 genomes]
rs12319914	1.00[AMR][1000 genomes]
rs12320418	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7294383	1.00[AMR][1000 genomes]
rs7311062	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7959187	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7966324	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7972719	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7976224	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7976580	1.00[AMR][1000 genomes]
rs7977242	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs7980777	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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	nsv973945	chr12:122923254-122958354	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122922800-122960400	Weak transcription	Right Atrium	heart
2	chr12:122931400-122938200	Weak transcription	HepG2	liver
3	chr12:122931800-122934000	Weak transcription	NHLF	lung
4	chr12:122931800-122934200	Weak transcription	NHEK	skin
5	chr12:122931800-122937400	Weak transcription	Duodenum Mucosa	Duodenum
6	chr12:122931800-122938400	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr12:122932000-122934200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr12:122932000-122937200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr12:122932000-122937200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr12:122932200-122934000	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr12:122933000-122935400	Enhancers	Placenta	Placenta
12	chr12:122933600-122934600	Enhancers	Muscle Satellite Cultured Cells	--
13	chr12:122933600-122934600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr12:122933600-122934600	Enhancers	Hela-S3	cervix
15	chr12:122933800-122934400	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr12:122933800-122934400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr12:122933800-122934400	Enhancers	NHDF-Ad	bronchial
18	chr12:122933800-122934600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr12:122933800-122934600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr12:122933800-122934600	Enhancers	A549	lung
21	chr12:122933800-122934600	Enhancers	HMEC	breast
22	chr12:122933800-122934800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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