Variant report

Variant	rs620764
Chromosome Location	chr1:45425997-45425998
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:45424939..45427483-chr1:45450541..45452158,2	K562	blood:
2	chr1:45194700..45197577-chr1:45423799..45426749,2	K562	blood:
3	chr1:45425462..45427483-chr1:45450541..45452359,2	K562	blood:

Variant related genes	Relation type
ENSG00000200169	Chromatin interaction
ENSG00000070785	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1226572	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs263962	0.81[ASN][1000 genomes]
rs263965	0.87[ASN][1000 genomes]
rs263966	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs263975	0.82[ASN][1000 genomes]
rs263977	0.82[ASN][1000 genomes]
rs263980	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs263982	0.86[AFR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs263987	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs263990	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs263998	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs264005	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs264009	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs264011	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs264014	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3121173	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs36107413	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs398200	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs399628	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs401665	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs438493	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs452989	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs489676	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61789958	0.87[ASN][1000 genomes]
rs659293	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9429058	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[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	nsv529677	chr1:45179509-45748571	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	424 gene(s)	inside rSNPs	diseases
2	nsv1002026	chr1:45187594-45758048	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	386 gene(s)	inside rSNPs	diseases
3	nsv915644	chr1:45282802-45696079	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45389200-45450200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr1:45390400-45426200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr1:45391200-45438400	Weak transcription	Dnd41	blood
4	chr1:45391200-45439800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr1:45391400-45437200	Weak transcription	Fetal Thymus	thymus
6	chr1:45392400-45433800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr1:45392800-45443200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:45397800-45435800	Weak transcription	Primary B cells from cord blood	blood
9	chr1:45407600-45438400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr1:45412000-45440000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:45412800-45441000	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr1:45413000-45429200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr1:45413200-45436200	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr1:45413400-45437800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr1:45413400-45439600	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr1:45413400-45439800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:45413400-45441400	Weak transcription	Brain Anterior Caudate	brain
18	chr1:45413600-45441400	Weak transcription	Colon Smooth Muscle	Colon
19	chr1:45413600-45442800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr1:45413800-45433800	Weak transcription	NH-A	brain
21	chr1:45413800-45437600	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr1:45413800-45438400	Weak transcription	Right Ventricle	heart
23	chr1:45413800-45439800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr1:45413800-45441600	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr1:45414000-45435600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr1:45414000-45436200	Weak transcription	Ovary	ovary
27	chr1:45414000-45438400	Weak transcription	Stomach Smooth Muscle	stomach
28	chr1:45414000-45439400	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr1:45414000-45439600	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr1:45414000-45440000	Weak transcription	Brain Angular Gyrus	brain
31	chr1:45414000-45440000	Weak transcription	Fetal Lung	lung
32	chr1:45414000-45441000	Weak transcription	Fetal Kidney	kidney
33	chr1:45414000-45441600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr1:45414000-45443200	Weak transcription	Pancreas	Pancrea
35	chr1:45414000-45450800	Weak transcription	Rectal Smooth Muscle	rectum
36	chr1:45414000-45451000	Weak transcription	Spleen	Spleen
37	chr1:45414200-45433800	Weak transcription	HSMM	muscle
38	chr1:45414200-45433800	Weak transcription	HUVEC	blood vessel
39	chr1:45414200-45443000	Weak transcription	Gastric	stomach
40	chr1:45415000-45437200	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr1:45415400-45438600	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr1:45415600-45440400	Weak transcription	Fetal Brain Female	brain
43	chr1:45416600-45443600	Weak transcription	Psoas Muscle	Psoas
44	chr1:45417200-45428200	Weak transcription	HepG2	liver
45	chr1:45417600-45442000	Weak transcription	Placenta	Placenta
46	chr1:45421000-45450800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr1:45421200-45426400	Weak transcription	Small Intestine	intestine
48	chr1:45421400-45443400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr1:45422000-45441400	Weak transcription	Esophagus	oesophagus
50	chr1:45423400-45433800	Weak transcription	Hela-S3	cervix

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