Variant report

Variant	rs58256586
Chromosome Location	chr1:220277095-220277096
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:220261085..220263110-chr1:220275764..220277863,2	MCF-7	breast:
2	chr1:220275550..220277666-chr1:220281833..220284313,2	K562	blood:
3	chr1:220266360..220269449-chr1:220274847..220278218,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000162813	Chromatin interaction
ENSG00000067704	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1039206	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1124763	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17007107	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17007139	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3767656	0.86[AMR][1000 genomes]
rs3820455	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs41274792	0.92[ASN][1000 genomes]
rs57463200	0.81[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs58966246	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60736051	0.82[AFR][1000 genomes]
rs73096563	0.81[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs73096575	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73096577	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73096595	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73098512	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73098518	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73098527	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73098528	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73098530	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73098537	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.81[EUR][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	nsv427930	chr1:220120379-220333434	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	744 gene(s)	inside rSNPs	diseases
2	nsv832636	chr1:220139697-220294352	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	738 gene(s)	inside rSNPs	diseases
3	esv2753619	chr1:220210273-220302117	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	737 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220268400-220277400	Weak transcription	Aorta	Aorta
2	chr1:220268400-220280400	Weak transcription	Fetal Kidney	kidney
3	chr1:220268400-220283200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:220268400-220287400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr1:220268400-220293400	Weak transcription	Stomach Mucosa	stomach
6	chr1:220268400-220330200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:220268600-220282600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:220268600-220293800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr1:220268800-220277400	Weak transcription	Colonic Mucosa	Colon
10	chr1:220269200-220277400	Weak transcription	Pancreas	Pancrea
11	chr1:220269200-220277600	Weak transcription	Small Intestine	intestine
12	chr1:220269200-220277600	Weak transcription	Thymus	Thymus
13	chr1:220269200-220277800	Weak transcription	Fetal Brain Male	brain
14	chr1:220269200-220279400	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr1:220269200-220279800	Weak transcription	Gastric	stomach
16	chr1:220269200-220280800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr1:220269200-220282400	Weak transcription	Spleen	Spleen
18	chr1:220269200-220282600	Weak transcription	Esophagus	oesophagus
19	chr1:220269200-220285400	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr1:220269200-220291600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:220269200-220291600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr1:220269200-220292800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr1:220269200-220293600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:220269400-220277400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr1:220269400-220278600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr1:220269400-220278600	Weak transcription	NHLF	lung
27	chr1:220269400-220280400	Weak transcription	Fetal Heart	heart
28	chr1:220269400-220283400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr1:220269400-220284800	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr1:220269400-220284800	Strong transcription	Osteobl	bone
31	chr1:220269400-220291200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr1:220269400-220330000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr1:220269600-220278400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr1:220269600-220290600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr1:220269600-220291200	Strong transcription	Liver	Liver
36	chr1:220269600-220291400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr1:220269600-220291400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr1:220269600-220291400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr1:220269600-220291600	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr1:220269600-220291800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr1:220269800-220281400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr1:220269800-220284800	Strong transcription	H1 Cell Line	embryonic stem cell
43	chr1:220269800-220284800	Strong transcription	Fetal Intestine Large	intestine
44	chr1:220269800-220286400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr1:220269800-220286600	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr1:220269800-220291000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr1:220269800-220291200	Strong transcription	Fetal Thymus	thymus
48	chr1:220269800-220291600	Strong transcription	Fetal Muscle Trunk	muscle
49	chr1:220269800-220292800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr1:220270000-220291200	Strong transcription	Placenta	Placenta

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