Variant report

Variant	rs11264763
Chromosome Location	chr1:153948705-153948706
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:153948202-153948769	K562	blood:	n/a	n/a
2	POLR2A	chr1:153948258-153948742	MCF-7	breast:	n/a	n/a
3	POLR2A	chr1:153948016-153948743	SK-N-MC	brain:	n/a	n/a
4	POLR2A	chr1:153948396-153951468	HepG2	liver:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:153948305..153949945-chr17:41176820..41178992,2	MCF-7	breast:
2	chr1:153892664..153896587-chr1:153948190..153951187,6	K562	blood:
3	chr1:153747168..153749563-chr1:153948647..153951323,3	MCF-7	breast:
4	chr1:153901414..153903833-chr1:153945059..153949290,4	K562	blood:
5	chr1:153645392..153647904-chr1:153946956..153949056,3	K562	blood:
6	chr1:153915931..153921352-chr1:153944041..153951714,10	K562	blood:
7	chr1:153948325..153950818-chr1:154153014..154155918,2	MCF-7	breast:
8	chr1:153947481..153949657-chr15:50646074..50648130,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000272654	TF binding region
ENSG00000244879	Chromatin interaction
ENSG00000198837	Chromatin interaction
ENSG00000108830	Chromatin interaction
ENSG00000108828	Chromatin interaction
ENSG00000104064	Chromatin interaction
ENSG00000143614	Chromatin interaction
ENSG00000143554	Chromatin interaction
ENSG00000143549	Chromatin interaction

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs10127983	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1043608	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10559	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10796968	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10908557	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10908558	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1110165	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11264532	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11264559	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11264567	0.86[ASN][1000 genomes]
rs11264619	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11264620	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11264680	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11264734	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11264743	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11577942	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11581644	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11583152	0.83[ASN][1000 genomes]
rs11585416	0.83[ASN][1000 genomes]
rs11586075	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11586593	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11586830	0.92[ASN][1000 genomes]
rs11587151	0.87[ASN][1000 genomes]
rs11589043	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11589857	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11590099	0.87[ASN][1000 genomes]
rs11591134	0.92[ASN][1000 genomes]
rs12022158	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12022730	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12023699	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12027783	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12028398	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12032914	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12033835	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12038577	0.81[ASN][1000 genomes]
rs12041850	0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs12041920	0.87[ASN][1000 genomes]
rs12042562	0.92[ASN][1000 genomes]
rs12042989	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12043350	0.91[ASN][1000 genomes]
rs12401565	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12403956	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12406003	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12409811	0.88[ASN][1000 genomes]
rs12564669	0.81[EUR][1000 genomes]
rs12567313	0.87[ASN][1000 genomes]
rs1547766	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1547767	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1572788	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34805562	0.87[ASN][1000 genomes]
rs3748848	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3748849	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3791187	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4508047	0.83[ASN][1000 genomes]
rs4520447	0.83[ASN][1000 genomes]
rs4595397	0.82[ASN][1000 genomes]
rs4612664	0.81[ASN][1000 genomes]
rs4845357	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4845358	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4845576	0.81[ASN][1000 genomes]
rs4845578	0.83[ASN][1000 genomes]
rs4845583	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4845585	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58095661	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59308681	0.87[ASN][1000 genomes]
rs59678326	0.87[ASN][1000 genomes]
rs60150125	0.92[ASN][1000 genomes]
rs61219911	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6427329	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6659220	0.92[ASN][1000 genomes]
rs6666703	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6671132	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6680140	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6694061	0.87[ASN][1000 genomes]
rs6700451	0.83[ASN][1000 genomes]
rs6701341	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6724	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72694234	0.81[ASN][1000 genomes]
rs7524739	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7537691	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7552274	0.81[ASN][1000 genomes]
rs8450	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs946682	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9660089	0.81[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	nsv999364	chr1:153622634-154419436	Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
2	nsv535175	chr1:153622634-154419436	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
3	nsv531892	chr1:153671910-153954090	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
4	nsv532551	chr1:153732039-154192279	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
5	esv1830240	chr1:153885261-154370938	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	239 gene(s)	inside rSNPs	diseases
6	nsv532552	chr1:153912047-153950752	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 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	chr1:153941200-153949000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:153941400-153949800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:153941600-153948800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr1:153946000-153949000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr1:153946600-153948800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:153946800-153949000	Weak transcription	Small Intestine	intestine
7	chr1:153947000-153948800	Genic enhancers	Monocytes-CD14+_RO01746	blood
8	chr1:153947200-153948800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:153947400-153948800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr1:153947400-153949200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr1:153947400-153949200	Weak transcription	Aorta	Aorta
12	chr1:153947400-153949200	Weak transcription	Esophagus	oesophagus
13	chr1:153948000-153949000	Genic enhancers	Primary T cells fromperipheralblood	blood
14	chr1:153948000-153949200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr1:153948200-153948800	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr1:153948200-153948800	Genic enhancers	Primary hematopoietic stem cells	blood
17	chr1:153948200-153948800	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr1:153948200-153948800	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr1:153948200-153948800	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr1:153948200-153948800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
21	chr1:153948200-153948800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr1:153948200-153948800	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr1:153948200-153948800	Genic enhancers	Muscle Satellite Cultured Cells	--
24	chr1:153948200-153948800	Genic enhancers	Adipose Nuclei	Adipose
25	chr1:153948200-153948800	Genic enhancers	Liver	Liver
26	chr1:153948200-153948800	Genic enhancers	Duodenum Smooth Muscle	Duodenum
27	chr1:153948200-153948800	Genic enhancers	Fetal Kidney	kidney
28	chr1:153948200-153948800	Genic enhancers	Fetal Muscle Leg	muscle
29	chr1:153948200-153948800	Genic enhancers	Fetal Thymus	thymus
30	chr1:153948200-153948800	Genic enhancers	Right Ventricle	heart
31	chr1:153948200-153948800	Genic enhancers	Skeletal Muscle Female	skeletal muscle
32	chr1:153948200-153948800	Enhancers	Stomach Mucosa	stomach
33	chr1:153948200-153948800	Genic enhancers	NH-A	brain
34	chr1:153948200-153949000	Genic enhancers	Primary B cells from cord blood	blood
35	chr1:153948200-153949000	Genic enhancers	Primary B cells from peripheral blood	blood
36	chr1:153948200-153949000	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
37	chr1:153948200-153949000	Genic enhancers	Colon Smooth Muscle	Colon
38	chr1:153948200-153949000	Genic enhancers	Thymus	Thymus
39	chr1:153948200-153949000	Transcr. at gene 5' and 3'	Dnd41	blood
40	chr1:153948200-153949000	Transcr. at gene 5' and 3'	Hela-S3	cervix
41	chr1:153948200-153949200	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr1:153948200-153949200	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
43	chr1:153948200-153949200	Enhancers	Gastric	stomach
44	chr1:153948200-153949400	Transcr. at gene 5' and 3'	NHLF	lung
45	chr1:153948200-153949600	Transcr. at gene 5' and 3'	K562	blood
46	chr1:153948200-153950600	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
47	chr1:153948400-153948800	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
48	chr1:153948400-153948800	Genic enhancers	Primary monocytes fromperipheralblood	blood
49	chr1:153948400-153948800	Genic enhancers	Primary neutrophils fromperipheralblood	blood
50	chr1:153948400-153948800	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood

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