Variant report

Variant	rs1215612
Chromosome Location	chr12:106540288-106540289
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1215611	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2062494	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35710706	0.80[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:52 , 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	chr12:106534600-106541600	Weak transcription	HSMM	muscle
3	chr12:106534800-106542000	Weak transcription	Colon Smooth Muscle	Colon
4	chr12:106535600-106543200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr12:106536800-106541200	Weak transcription	Stomach Smooth Muscle	stomach
6	chr12:106537000-106541600	Weak transcription	Fetal Stomach	stomach
7	chr12:106538600-106540400	Enhancers	Fetal Muscle Leg	muscle
8	chr12:106539000-106544800	Enhancers	Fetal Heart	heart
9	chr12:106539200-106543000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr12:106539400-106540800	Weak transcription	Fetal Brain Male	brain
11	chr12:106539600-106541600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr12:106539600-106541800	Weak transcription	Fetal Brain Female	brain
13	chr12:106539800-106541600	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr12:106539800-106541800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr12:106539800-106541800	Weak transcription	Brain Germinal Matrix	brain
16	chr12:106539800-106541800	Weak transcription	Lung	lung
17	chr12:106539800-106542800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr12:106539800-106543000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr12:106539800-106543400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr12:106540000-106541000	Weak transcription	Aorta	Aorta
21	chr12:106540000-106541000	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr12:106540000-106541200	Weak transcription	Fetal Intestine Small	intestine
23	chr12:106540000-106541200	Weak transcription	Stomach Mucosa	stomach
24	chr12:106540000-106541600	Weak transcription	Brain Substantia Nigra	brain
25	chr12:106540000-106541600	Weak transcription	HSMMtube	muscle
26	chr12:106540000-106541800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr12:106540000-106541800	Weak transcription	Gastric	stomach
28	chr12:106540000-106541800	Weak transcription	Pancreas	Pancrea
29	chr12:106540000-106542000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr12:106540000-106542000	Weak transcription	Adipose Nuclei	Adipose
31	chr12:106540000-106542000	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr12:106540000-106542400	Weak transcription	Right Ventricle	heart
33	chr12:106540000-106542800	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr12:106540000-106542800	Weak transcription	Psoas Muscle	Psoas
35	chr12:106540000-106543000	Enhancers	Liver	Liver
36	chr12:106540000-106544400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr12:106540200-106540600	Weak transcription	Fetal Intestine Large	intestine
38	chr12:106540200-106541000	Weak transcription	Brain Anterior Caudate	brain
39	chr12:106540200-106541200	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr12:106540200-106541600	Weak transcription	Brain Cingulate Gyrus	brain
41	chr12:106540200-106541600	Weak transcription	Brain Hippocampus Middle	brain
42	chr12:106540200-106541600	Weak transcription	Fetal Muscle Trunk	muscle
43	chr12:106540200-106541800	Weak transcription	Brain Angular Gyrus	brain
44	chr12:106540200-106541800	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr12:106540200-106541800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr12:106540200-106541800	Weak transcription	Ovary	ovary
47	chr12:106540200-106542800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr12:106540200-106542800	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr12:106540200-106542800	Weak transcription	Right Atrium	heart
50	chr12:106540200-106542800	Weak transcription	A549	lung

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