Variant report

Variant	rs1686728
Chromosome Location	chr12:124515330-124515331
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	chr12:124456427..124458717-chr12:124514754..124517707,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000178882	Chromatin interaction
ENSG00000179195	Chromatin interaction
ENSG00000119242	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10846598	1.00[ASN][1000 genomes]
rs1631624	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1686757	0.82[AMR][1000 genomes]
rs1716375	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1716378	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1716385	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1716403	1.00[ASN][1000 genomes]
rs1716409	1.00[ASN][1000 genomes]
rs2451323	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2451325	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2460759	0.88[AMR][1000 genomes]
rs4765041	1.00[ASN][1000 genomes]
rs55673100	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs707333	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7138055	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs825454	1.00[ASN][1000 genomes]
rs825457	1.00[ASN][1000 genomes]
rs825464	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs825466	1.00[ASN][1000 genomes]
rs825479	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs825497	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs861131	1.00[ASN][1000 genomes]
rs866640	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899580	chr12:124499542-124565258	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv455734	chr12:124511908-124772515	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv560538	chr12:124511908-124772515	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124498400-124517000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:124499600-124521400	Weak transcription	Brain Germinal Matrix	brain
3	chr12:124510200-124517400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr12:124510600-124518400	Weak transcription	Primary hematopoietic stem cells	blood
5	chr12:124510600-124520600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr12:124511800-124521000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr12:124512400-124516600	Weak transcription	Brain Cingulate Gyrus	brain
8	chr12:124512400-124520600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr12:124512600-124515600	Enhancers	Fetal Thymus	thymus
10	chr12:124513400-124515600	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr12:124513600-124516800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr12:124513600-124523400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr12:124514200-124515400	Enhancers	Placenta	Placenta
14	chr12:124514200-124515600	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr12:124514400-124515400	Enhancers	Fetal Muscle Trunk	muscle
16	chr12:124514400-124515400	Enhancers	Fetal Muscle Leg	muscle
17	chr12:124514400-124515400	Enhancers	Fetal Stomach	stomach
18	chr12:124514400-124515400	Enhancers	Right Atrium	heart
19	chr12:124514400-124515800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr12:124514400-124516000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr12:124514400-124516200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr12:124514400-124516200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr12:124514400-124516200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr12:124514400-124517000	Enhancers	NHDF-Ad	bronchial
25	chr12:124514400-124517000	Enhancers	NHLF	lung
26	chr12:124514600-124515400	Enhancers	Left Ventricle	heart
27	chr12:124514600-124515400	Enhancers	Ovary	ovary
28	chr12:124514600-124515400	Enhancers	Right Ventricle	heart
29	chr12:124514600-124515600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr12:124514600-124515600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr12:124514600-124515600	Enhancers	Adipose Nuclei	Adipose
32	chr12:124514600-124515600	Flanking Active TSS	Osteobl	bone
33	chr12:124514600-124516000	Enhancers	K562	blood
34	chr12:124514600-124516200	Enhancers	HSMM	muscle
35	chr12:124514800-124515600	Enhancers	Fetal Lung	lung
36	chr12:124514800-124515600	Enhancers	HUVEC	blood vessel
37	chr12:124514800-124515800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr12:124514800-124516000	Enhancers	Fetal Heart	heart
39	chr12:124515000-124515400	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr12:124515000-124515400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr12:124515000-124515600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr12:124515000-124515600	Flanking Active TSS	NH-A	brain
43	chr12:124515000-124516000	Enhancers	HSMMtube	muscle
44	chr12:124515000-124526000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr12:124515000-124531800	Weak transcription	Fetal Intestine Small	intestine
46	chr12:124515200-124515400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr12:124515200-124515400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr12:124515200-124515400	Active TSS	Stomach Smooth Muscle	stomach
49	chr12:124515200-124515600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
50	chr12:124515200-124515600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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