Variant report

Variant	rs58698650
Chromosome Location	chr1:227051363-227051364
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	chr1:227044512..227048863-chr1:227049496..227051817,3	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs12069540	0.93[ASN][1000 genomes]
rs1341281	1.00[EUR][1000 genomes]
rs1341282	1.00[EUR][1000 genomes]
rs16846590	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3213437	0.86[AMR][1000 genomes]
rs4520384	1.00[EUR][1000 genomes]
rs57594469	1.00[EUR][1000 genomes]
rs58973334	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59683545	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59692841	1.00[EUR][1000 genomes]
rs60294511	1.00[EUR][1000 genomes]
rs60560949	1.00[EUR][1000 genomes]
rs61103575	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs61185121	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61477394	0.93[AMR][1000 genomes]
rs61674281	0.89[AFR][1000 genomes]
rs6426539	1.00[EUR][1000 genomes]
rs6426540	1.00[EUR][1000 genomes]
rs6671059	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6675452	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6677908	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6678839	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6678940	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74139805	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74139806	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs74139837	0.80[AFR][1000 genomes]
rs74139838	0.80[AFR][1000 genomes]
rs74139842	0.87[AFR][1000 genomes]
rs7522645	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7523790	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7525819	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7555672	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv4766	chr1:227025954-227070961	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv3381082	chr1:227029266-227059927	Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1003656	chr1:227034700-227559665	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv535318	chr1:227034700-227559665	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227045200-227057800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:227050400-227051600	Enhancers	H9 Cell Line	embryonic stem cell
3	chr1:227050400-227051600	Enhancers	NHDF-Ad	bronchial
4	chr1:227050400-227051800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:227050400-227051800	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr1:227050400-227051800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:227050400-227051800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:227050400-227052000	Enhancers	H1 Cell Line	embryonic stem cell
9	chr1:227050400-227052000	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr1:227050400-227052000	Enhancers	HMEC	breast
11	chr1:227050400-227052400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:227050400-227052400	Enhancers	Pancreas	Pancrea
13	chr1:227050400-227053600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr1:227050400-227053800	Enhancers	NHLF	lung
15	chr1:227050600-227051600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:227050600-227051800	Enhancers	Muscle Satellite Cultured Cells	--
17	chr1:227050600-227052000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:227050600-227052000	Enhancers	Fetal Thymus	thymus
19	chr1:227050600-227052000	Enhancers	NHEK	skin
20	chr1:227050600-227052200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr1:227050800-227051400	Enhancers	Colon Smooth Muscle	Colon
22	chr1:227050800-227051600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr1:227050800-227051800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr1:227050800-227051800	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr1:227050800-227051800	Enhancers	Osteobl	bone
26	chr1:227050800-227052000	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr1:227050800-227053400	Enhancers	A549	lung
28	chr1:227051000-227051400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr1:227051000-227051400	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr1:227051000-227051600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr1:227051000-227051600	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr1:227051000-227051600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr1:227051000-227051600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr1:227051000-227051600	Enhancers	Stomach Smooth Muscle	stomach
35	chr1:227051000-227051600	Enhancers	Thymus	Thymus
36	chr1:227051000-227051600	Enhancers	Hela-S3	cervix
37	chr1:227051000-227051800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr1:227051000-227051800	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr1:227051000-227051800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr1:227051000-227051800	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr1:227051000-227051800	Enhancers	HSMM	muscle
42	chr1:227051000-227051800	Enhancers	HSMMtube	muscle
43	chr1:227051000-227051800	Enhancers	NH-A	brain
44	chr1:227051000-227052000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr1:227051000-227053600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr1:227051200-227051400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr1:227051200-227051600	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr1:227051200-227051600	Enhancers	Primary T cells from cord blood	blood
49	chr1:227051200-227051600	Enhancers	Dnd41	blood

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