Variant report

Variant	rs12069790
Chromosome Location	chr1:92997058-92997059
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12069582	1.00[AFR][1000 genomes]
rs12070123	1.00[AFR][1000 genomes]
rs12075870	0.82[AFR][1000 genomes]
rs12083424	1.00[AFR][1000 genomes]
rs12084412	0.84[AFR][1000 genomes]
rs28696358	0.86[AFR][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	nsv523354	chr1:92931263-93064823	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv1004381	chr1:92968173-93064823	Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92968200-93042800	Weak transcription	HSMM	muscle
2	chr1:92968400-92997600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr1:92971400-92998600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:92972600-93013400	Weak transcription	Ovary	ovary
5	chr1:92973800-92997600	Weak transcription	Duodenum Mucosa	Duodenum
6	chr1:92973800-93002200	Weak transcription	Fetal Intestine Large	intestine
7	chr1:92976400-93042400	Weak transcription	Fetal Stomach	stomach
8	chr1:92977600-93010600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr1:92977600-93013200	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr1:92979600-93002200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:92981800-93004000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr1:92981800-93033400	Weak transcription	NHEK	skin
13	chr1:92983400-92998600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr1:92983600-93066200	Weak transcription	Adipose Nuclei	Adipose
15	chr1:92986800-93002400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:92990800-93003800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:92993000-93003600	Weak transcription	Fetal Intestine Small	intestine
18	chr1:92993000-93007400	Weak transcription	Left Ventricle	heart
19	chr1:92993400-93002200	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr1:92993800-93003600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr1:92993800-93007200	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr1:92994000-93002400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr1:92994400-93002200	Weak transcription	Liver	Liver
24	chr1:92994600-93066000	Weak transcription	Placenta	Placenta
25	chr1:92996000-92997200	Weak transcription	HepG2	liver

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