Variant report

Variant	rs60531981
Chromosome Location	chr1:220275174-220275175
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:220274759..220277050-chr1:220282694..220284313,2	K562	blood:
2	chr1:220266360..220269449-chr1:220274847..220278218,5	MCF-7	breast:
3	chr1:220273792..220275457-chr1:220277265..220279175,2	K562	blood:
4	chr1:220267013..220269382-chr1:220272899..220275972,4	K562	blood:

Variant related genes	Relation type
ENSG00000067704	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11095	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12568334	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12757995	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17563262	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17563518	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17563587	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2053250	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2289190	0.80[EUR][1000 genomes]
rs3738336	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3767654	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs57728897	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61484867	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72747321	0.83[ASN][1000 genomes]
rs72747325	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72747385	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72747386	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72747387	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72747389	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72747390	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72747391	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7549450	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[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	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	chr1:220268200-220275400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:220268400-220277400	Weak transcription	Aorta	Aorta
3	chr1:220268400-220280400	Weak transcription	Fetal Kidney	kidney
4	chr1:220268400-220283200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr1:220268400-220287400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr1:220268400-220293400	Weak transcription	Stomach Mucosa	stomach
7	chr1:220268400-220330200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:220268600-220282600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr1:220268600-220293800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr1:220268800-220277400	Weak transcription	Colonic Mucosa	Colon
11	chr1:220269000-220275600	Weak transcription	Primary hematopoietic stem cells	blood
12	chr1:220269200-220275200	Weak transcription	Brain Substantia Nigra	brain
13	chr1:220269200-220275200	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr1:220269200-220275600	Weak transcription	Brain Cingulate Gyrus	brain
15	chr1:220269200-220276800	Weak transcription	HSMMtube	muscle
16	chr1:220269200-220277400	Weak transcription	Pancreas	Pancrea
17	chr1:220269200-220277600	Weak transcription	Small Intestine	intestine
18	chr1:220269200-220277600	Weak transcription	Thymus	Thymus
19	chr1:220269200-220277800	Weak transcription	Fetal Brain Male	brain
20	chr1:220269200-220279400	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr1:220269200-220279800	Weak transcription	Gastric	stomach
22	chr1:220269200-220280800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr1:220269200-220282400	Weak transcription	Spleen	Spleen
24	chr1:220269200-220282600	Weak transcription	Esophagus	oesophagus
25	chr1:220269200-220285400	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr1:220269200-220291600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr1:220269200-220291600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr1:220269200-220292800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr1:220269200-220293600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:220269400-220275400	Weak transcription	Primary T cells from cord blood	blood
31	chr1:220269400-220277000	Weak transcription	Colon Smooth Muscle	Colon
32	chr1:220269400-220277000	Weak transcription	Hela-S3	cervix
33	chr1:220269400-220277400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr1:220269400-220278600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr1:220269400-220278600	Weak transcription	NHLF	lung
36	chr1:220269400-220280400	Weak transcription	Fetal Heart	heart
37	chr1:220269400-220283400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr1:220269400-220284800	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr1:220269400-220284800	Strong transcription	Osteobl	bone
40	chr1:220269400-220291200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr1:220269400-220330000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr1:220269600-220275200	Weak transcription	Brain Germinal Matrix	brain
43	chr1:220269600-220276000	Strong transcription	Muscle Satellite Cultured Cells	--
44	chr1:220269600-220278400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr1:220269600-220290600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr1:220269600-220291200	Strong transcription	Liver	Liver
47	chr1:220269600-220291400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr1:220269600-220291400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
49	chr1:220269600-220291400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr1:220269600-220291600	Strong transcription	HUES6 Cell Line	embryonic stem cell

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