Variant report

Variant	rs12129497
Chromosome Location	chr1:92075848-92075849
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	chr1:92067249..92070219-chr1:92074709..92076906,3	K562	blood:
2	chr1:92067249..92070219-chr1:92074709..92076665,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12123879	1.00[EUR][1000 genomes]
rs12125101	1.00[EUR][1000 genomes]
rs12128060	1.00[EUR][1000 genomes]
rs12132187	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949516	chr1:91644418-92109261	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1009560	chr1:91897078-92270781	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv1012864	chr1:92067100-92827761	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv535029	chr1:92067100-92827761	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv947497	chr1:92067233-92076450	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv2763581	chr1:92068967-92203803	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92055800-92076400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:92068200-92083800	Weak transcription	Fetal Lung	lung
3	chr1:92072600-92076200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr1:92072600-92077600	Weak transcription	Ovary	ovary
5	chr1:92073400-92078000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:92073400-92078200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr1:92073800-92079400	Weak transcription	Fetal Intestine Small	intestine
8	chr1:92074000-92080000	Enhancers	NHDF-Ad	bronchial
9	chr1:92074200-92076000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr1:92074200-92077600	Enhancers	NHEK	skin
11	chr1:92074200-92077800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:92074400-92076000	Enhancers	HMEC	breast
13	chr1:92074400-92076000	Enhancers	Osteobl	bone
14	chr1:92074400-92076200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:92074400-92076600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:92074400-92076600	Enhancers	Placenta Amnion	Placenta Amnion
17	chr1:92074400-92078200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr1:92074400-92078200	Enhancers	Placenta	Placenta
19	chr1:92074400-92078800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr1:92074600-92076200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:92074600-92078200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr1:92074800-92076000	Enhancers	NH-A	brain
23	chr1:92074800-92078000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr1:92074800-92080000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr1:92075000-92077400	Enhancers	K562	blood
26	chr1:92075200-92078000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr1:92075400-92076400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:92075400-92076600	Enhancers	NHLF	lung
29	chr1:92075400-92078000	Enhancers	Fetal Muscle Leg	muscle
30	chr1:92075400-92079400	Weak transcription	Fetal Heart	heart
31	chr1:92075800-92076200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr1:92075800-92076200	Enhancers	Hela-S3	cervix
33	chr1:92075800-92078200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr1:92075800-92079000	Weak transcription	HSMMtube	muscle
35	chr1:92075800-92079200	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr1:92075800-92079400	Enhancers	A549	lung
37	chr1:92075800-92088200	Weak transcription	Right Atrium	heart

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