Variant report

Variant	rs73389408
Chromosome Location	chr12:105955923-105955924
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:105944792..105946780-chr12:105955206..105957369,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C12orf75-6	chr12:105955031-105962713	NONHSAT030458

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12424385	0.93[AMR][1000 genomes]
rs3898037	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73389420	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73389462	0.93[AMR][1000 genomes]
rs73391392	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	nsv832507	chr12:105821685-106005186	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1039068	chr12:105935786-106211250	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105938800-105964600	Weak transcription	Aorta	Aorta
2	chr12:105950000-105956400	Strong transcription	HUVEC	blood vessel
3	chr12:105954600-105957400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr12:105955000-105956000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr12:105955000-105956200	Enhancers	HSMMtube	muscle
6	chr12:105955000-105958000	Enhancers	Fetal Muscle Leg	muscle
7	chr12:105955200-105956000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr12:105955200-105956200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:105955200-105956400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr12:105955200-105956400	Enhancers	Fetal Lung	lung
11	chr12:105955200-105956400	Enhancers	HSMM	muscle
12	chr12:105955200-105956600	Enhancers	NHDF-Ad	bronchial
13	chr12:105955200-105956800	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr12:105955200-105957200	Enhancers	HMEC	breast
15	chr12:105955400-105956000	Active TSS	Fetal Brain Male	brain
16	chr12:105955400-105956000	Enhancers	Gastric	stomach
17	chr12:105955400-105956000	Flanking Active TSS	A549	lung
18	chr12:105955400-105956400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr12:105955400-105956600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr12:105955400-105956600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:105955400-105956600	Enhancers	Right Atrium	heart
22	chr12:105955400-105956800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr12:105955400-105956800	Enhancers	Colon Smooth Muscle	Colon
24	chr12:105955400-105956800	Enhancers	Fetal Heart	heart
25	chr12:105955400-105957000	Enhancers	Fetal Stomach	stomach
26	chr12:105955400-105957000	Flanking Active TSS	Hela-S3	cervix
27	chr12:105955400-105958200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr12:105955600-105956000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr12:105955600-105956000	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr12:105955600-105956000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
31	chr12:105955600-105956200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
32	chr12:105955600-105956200	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr12:105955600-105956200	Flanking Active TSS	NHEK	skin
34	chr12:105955600-105956200	Enhancers	NHLF	lung
35	chr12:105955600-105956600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr12:105955600-105956800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr12:105955600-105957000	Enhancers	H9 Cell Line	embryonic stem cell
38	chr12:105955800-105956000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr12:105955800-105956000	Enhancers	Fetal Muscle Trunk	muscle
40	chr12:105955800-105956200	Enhancers	H1 Cell Line	embryonic stem cell
41	chr12:105955800-105956200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr12:105955800-105956200	Weak transcription	Fetal Brain Female	brain
43	chr12:105955800-105956200	Enhancers	Lung	lung
44	chr12:105955800-105956200	Flanking Active TSS	NH-A	brain
45	chr12:105955800-105956200	Flanking Active TSS	Osteobl	bone
46	chr12:105955800-105956400	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr12:105955800-105956400	Enhancers	Left Ventricle	heart
48	chr12:105955800-105956400	Flanking Active TSS	Stomach Smooth Muscle	stomach
49	chr12:105955800-105956600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr12:105955800-105956600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell

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