Variant report

Variant	rs58313330
Chromosome Location	chr1:92116305-92116306
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:92114681..92117340-chr1:92119147..92120914,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10218717	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12569077	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17131518	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2182424	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59783554	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][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	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
2	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
3	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
4	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
5	nsv1014990	chr1:92084142-92206674	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv530438	chr1:92091957-92827760	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92109600-92119600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:92111200-92116400	Weak transcription	Fetal Kidney	kidney
3	chr1:92111200-92116600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:92111600-92116600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:92111600-92117000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr1:92111800-92116400	Weak transcription	K562	blood
7	chr1:92111800-92116600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:92112000-92117000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr1:92115200-92118200	Enhancers	NHDF-Ad	bronchial
10	chr1:92115400-92117600	Enhancers	Placenta	Placenta
11	chr1:92115400-92118200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr1:92115600-92116400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:92115600-92116800	Enhancers	GM12878-XiMat	blood
14	chr1:92115600-92117000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr1:92115600-92118000	Enhancers	Ovary	ovary
16	chr1:92115600-92118000	Enhancers	NHLF	lung
17	chr1:92115800-92116400	Enhancers	Colon Smooth Muscle	Colon
18	chr1:92115800-92117000	Enhancers	HSMMtube	muscle
19	chr1:92115800-92117200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr1:92115800-92117400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr1:92115800-92117400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:92115800-92117800	Enhancers	NH-A	brain
23	chr1:92115800-92118000	Enhancers	Muscle Satellite Cultured Cells	--
24	chr1:92115800-92118000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr1:92115800-92118000	Enhancers	Osteobl	bone
26	chr1:92116000-92116600	Enhancers	Primary B cells from cord blood	blood
27	chr1:92116000-92117200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr1:92116000-92117200	Enhancers	NHEK	skin
29	chr1:92116000-92117400	Enhancers	HSMM	muscle
30	chr1:92116000-92117800	Enhancers	Fetal Lung	lung
31	chr1:92116000-92118000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr1:92116000-92118000	Enhancers	Fetal Muscle Leg	muscle
33	chr1:92116000-92118000	Enhancers	Fetal Stomach	stomach
34	chr1:92116000-92118000	Enhancers	Right Atrium	heart
35	chr1:92116000-92118000	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr1:92116000-92118400	Enhancers	Adipose Nuclei	Adipose
37	chr1:92116200-92116800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr1:92116200-92116800	Enhancers	Fetal Thymus	thymus
39	chr1:92116200-92117000	Weak transcription	Rectal Smooth Muscle	rectum
40	chr1:92116200-92117000	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr1:92116200-92117000	Enhancers	HMEC	breast
42	chr1:92116200-92117200	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr1:92116200-92117200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr1:92116200-92117400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr1:92116200-92117400	Enhancers	Right Ventricle	heart
46	chr1:92116200-92117800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr1:92116200-92117800	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr1:92116200-92117800	Enhancers	Fetal Muscle Trunk	muscle
49	chr1:92116200-92117800	Enhancers	Left Ventricle	heart
50	chr1:92116200-92118000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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