Variant report

Variant	rs12139069
Chromosome Location	chr1:95552446-95552447
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	chr1:95544414..95547978-chr1:95549348..95553409,4	K562	blood:
2	chr1:95548633..95550280-chr1:95551848..95554407,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11165283	0.83[ASN][1000 genomes]
rs12119383	0.85[AMR][1000 genomes]
rs12119469	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12119701	0.86[ASN][1000 genomes]
rs12121738	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12123807	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12124097	0.92[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12124647	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12126245	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12137333	0.86[ASN][1000 genomes]
rs12141083	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12142619	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4245669	0.84[ASN][1000 genomes]
rs4847374	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4847375	0.86[ASN][1000 genomes]
rs4847376	0.86[ASN][1000 genomes]
rs58602136	0.86[ASN][1000 genomes]
rs61772641	0.86[ASN][1000 genomes]
rs71483843	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7527765	0.86[ASN][1000 genomes]
rs7532763	0.86[ASN][1000 genomes]
rs7551281	0.97[EUR][1000 genomes]
rs9787257	0.92[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs9787343	0.92[AMR][1000 genomes];0.86[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	nsv830636	chr1:95495849-95703126	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:95549200-95554200	Enhancers	Fetal Heart	heart
2	chr1:95549600-95552600	Enhancers	HepG2	liver
3	chr1:95549800-95553000	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr1:95550000-95553000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:95550200-95552600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:95550200-95552600	Weak transcription	Fetal Intestine Large	intestine
7	chr1:95550200-95552600	Weak transcription	Fetal Lung	lung
8	chr1:95550400-95552800	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chr1:95550400-95553000	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr1:95550600-95552600	Weak transcription	Fetal Intestine Small	intestine
11	chr1:95550600-95552600	Weak transcription	NHDF-Ad	bronchial
12	chr1:95550600-95552800	Enhancers	H9 Cell Line	embryonic stem cell
13	chr1:95550600-95553000	Enhancers	H1 Cell Line	embryonic stem cell
14	chr1:95551200-95552600	Weak transcription	Psoas Muscle	Psoas
15	chr1:95551200-95552600	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr1:95551200-95552600	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr1:95551200-95553000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr1:95551400-95552600	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr1:95551400-95552600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr1:95551800-95552600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr1:95551800-95552600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr1:95551800-95552600	Weak transcription	Adipose Nuclei	Adipose
23	chr1:95551800-95552600	Enhancers	HUVEC	blood vessel
24	chr1:95551800-95553200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:95551800-95557800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr1:95552000-95552800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr1:95552000-95552800	Enhancers	HSMMtube	muscle
28	chr1:95552000-95553600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr1:95552000-95553800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr1:95552200-95552600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr1:95552200-95553000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr1:95552200-95554200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr1:95552400-95552600	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr1:95552400-95552600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr1:95552400-95552600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr1:95552400-95552800	Flanking Active TSS	A549	lung
37	chr1:95552400-95552800	Enhancers	NHLF	lung
38	chr1:95552400-95553000	Enhancers	Liver	Liver
39	chr1:95552400-95553000	Flanking Active TSS	K562	blood
40	chr1:95552400-95553600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr1:95552400-95553600	Enhancers	HSMM	muscle
42	chr1:95552400-95554200	Enhancers	Osteobl	bone
43	chr1:95552400-95556600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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