Variant report

Variant	rs12058739
Chromosome Location	chr1:168592419-168592420
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:168590993..168592623-chr1:168594725..168596497,2	K562	blood:
2	chr1:168590276..168592775-chr1:169444079..169445970,2	K562	blood:
3	chr1:168590882..168592754-chr1:168594350..168596056,2	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs12059526	1.00[AFR][1000 genomes]
rs12063309	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12064517	1.00[TSI][hapmap]
rs12073060	1.00[MEX][hapmap]
rs12096552	1.00[TSI][hapmap]
rs12563551	1.00[TSI][hapmap]
rs73031504	1.00[AFR][1000 genomes]
rs73031508	0.87[AFR][1000 genomes]
rs7548427	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014626	chr1:168441288-168642731	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv535196	chr1:168441288-168642731	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1011821	chr1:168441488-168642592	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv535197	chr1:168441488-168642592	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1008852	chr1:168449940-168643905	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv535198	chr1:168449940-168643905	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv1007846	chr1:168449940-168687265	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv869415	chr1:168467284-169153863	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
9	nsv831836	chr1:168538779-168716956	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv3443	chr1:168577582-168622305	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:168588800-168592600	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr1:168588800-168592800	Weak transcription	Brain Cingulate Gyrus	brain
3	chr1:168589800-168593200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr1:168589800-168593800	Enhancers	Placenta Amnion	Placenta Amnion
5	chr1:168590400-168593000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr1:168590400-168593200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:168590400-168595400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:168591000-168592600	Weak transcription	Left Ventricle	heart
9	chr1:168591000-168596000	Weak transcription	Right Atrium	heart
10	chr1:168591200-168593000	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr1:168591200-168593400	Enhancers	HSMMtube	muscle
12	chr1:168591200-168598400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr1:168591600-168592600	Weak transcription	Fetal Muscle Leg	muscle
14	chr1:168591600-168593400	Weak transcription	Psoas Muscle	Psoas
15	chr1:168592000-168593400	Enhancers	Hela-S3	cervix
16	chr1:168592200-168592600	Enhancers	Aorta	Aorta
17	chr1:168592200-168592600	Enhancers	HMEC	breast
18	chr1:168592200-168592800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:168592200-168592800	Enhancers	Right Ventricle	heart
20	chr1:168592200-168592800	Flanking Active TSS	A549	lung
21	chr1:168592200-168592800	Enhancers	NHEK	skin
22	chr1:168592200-168593200	Enhancers	Muscle Satellite Cultured Cells	--
23	chr1:168592200-168593200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr1:168592200-168593400	Enhancers	HSMM	muscle
25	chr1:168592200-168593400	Enhancers	Osteobl	bone
26	chr1:168592400-168592600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr1:168592400-168592600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
28	chr1:168592400-168592800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr1:168592400-168593000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr1:168592400-168593200	Enhancers	NH-A	brain
31	chr1:168592400-168593400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr1:168592400-168593400	Enhancers	Fetal Heart	heart

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