Variant report

Variant	rs1215611
Chromosome Location	chr12:106539118-106539119
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:106537744..106539667-chr12:106540845..106542728,2	MCF-7	breast:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1215612	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12296698	0.80[EUR][1000 genomes]
rs2062494	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35710706	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040534	chr12:106528394-106619175	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers 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	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106533800-106541800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr12:106534600-106539200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:106534600-106539200	Weak transcription	Lung	lung
4	chr12:106534600-106539200	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr12:106534600-106539600	Weak transcription	Aorta	Aorta
6	chr12:106534600-106541600	Weak transcription	HSMM	muscle
7	chr12:106534800-106539200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr12:106534800-106539200	Enhancers	Liver	Liver
9	chr12:106534800-106540000	Enhancers	Brain Substantia Nigra	brain
10	chr12:106534800-106542000	Weak transcription	Colon Smooth Muscle	Colon
11	chr12:106535000-106540000	Enhancers	HSMMtube	muscle
12	chr12:106535000-106540200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr12:106535200-106539200	Weak transcription	Fetal Kidney	kidney
14	chr12:106535400-106539200	Weak transcription	Fetal Intestine Large	intestine
15	chr12:106535400-106539200	Weak transcription	Gastric	stomach
16	chr12:106535600-106539200	Weak transcription	Ovary	ovary
17	chr12:106535600-106539400	Weak transcription	Adipose Nuclei	Adipose
18	chr12:106535600-106539800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr12:106535600-106543200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr12:106535800-106539600	Enhancers	Fetal Brain Female	brain
21	chr12:106536200-106539200	Weak transcription	Right Atrium	heart
22	chr12:106536200-106539200	Weak transcription	Right Ventricle	heart
23	chr12:106536200-106539200	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr12:106536200-106539400	Enhancers	Brain Cingulate Gyrus	brain
25	chr12:106536600-106539200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr12:106536600-106539200	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr12:106536800-106540000	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr12:106536800-106541200	Weak transcription	Stomach Smooth Muscle	stomach
29	chr12:106537000-106539200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr12:106537000-106539200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr12:106537000-106540200	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr12:106537000-106541600	Weak transcription	Fetal Stomach	stomach
33	chr12:106537600-106539200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr12:106537600-106539600	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr12:106537600-106539600	Enhancers	Brain Hippocampus Middle	brain
36	chr12:106537600-106540000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr12:106537600-106540000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr12:106537600-106540200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr12:106537800-106540000	Enhancers	HUVEC	blood vessel
40	chr12:106538000-106539200	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr12:106538000-106539400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr12:106538000-106539600	Enhancers	Brain Angular Gyrus	brain
43	chr12:106538000-106539800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr12:106538000-106540200	Enhancers	A549	lung
45	chr12:106538200-106539200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr12:106538200-106539200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr12:106538200-106539200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr12:106538200-106539200	Enhancers	Muscle Satellite Cultured Cells	--
49	chr12:106538200-106539200	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr12:106538200-106539200	Weak transcription	Left Ventricle	heart

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