Variant report

Variant	rs1454415
Chromosome Location	chr2:55643047-55643048
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:55641621..55644231-chr2:55715263..55717892,2	K562	blood:
2	chr2:55641053..55643696-chr2:55844144..55845979,2	K562	blood:
3	chr2:55633136..55639027-chr2:55639441..55643745,9	K562	blood:

Variant related genes	Relation type
ENSG00000272606	Chromatin interaction
ENSG00000138041	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10169185	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10184756	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11125568	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11125569	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11125572	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11695152	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12618216	0.90[ASN][1000 genomes]
rs12623954	0.98[ASN][1000 genomes]
rs12713297	0.84[ASN][1000 genomes]
rs13008631	0.83[AFR][1000 genomes]
rs1454419	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1454420	0.98[ASN][1000 genomes]
rs1454423	0.98[ASN][1000 genomes]
rs1454424	0.98[ASN][1000 genomes]
rs1902061	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1902062	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2045134	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2045135	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2045136	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.80[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2123983	0.99[ASN][1000 genomes]
rs2219130	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2867178	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2867179	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2867194	0.91[ASN][1000 genomes]
rs2903509	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs2903514	1.00[ASN][1000 genomes]
rs3748943	0.98[ASN][1000 genomes]
rs3762511	0.98[ASN][1000 genomes]
rs4277563	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4481025	0.99[ASN][1000 genomes]
rs4672034	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4672035	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4672036	0.97[ASN][1000 genomes]
rs4672037	0.97[ASN][1000 genomes]
rs4672038	0.98[ASN][1000 genomes]
rs4672040	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4672041	0.98[ASN][1000 genomes]
rs4672043	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4672044	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4672045	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs56201519	0.89[AFR][1000 genomes]
rs58708869	0.89[AFR][1000 genomes]
rs6545491	0.98[ASN][1000 genomes]
rs6545492	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6705104	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6709204	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6720698	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6721593	1.00[ASN][1000 genomes]
rs6732633	0.91[ASN][1000 genomes]
rs6732759	0.99[ASN][1000 genomes]
rs6733814	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6744426	0.92[ASN][1000 genomes]
rs6748979	0.98[ASN][1000 genomes]
rs7424286	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7559987	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7574743	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7579037	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7589279	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7602189	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7603105	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9751964	0.94[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006170	chr2:55530179-55809251	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv520581	chr2:55622825-55903016	Weak transcription Strong transcription Enhancers 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 target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55542400-55644800	Weak transcription	Primary T cells from cord blood	blood
2	chr2:55579400-55644400	Weak transcription	Primary B cells from cord blood	blood
3	chr2:55591000-55646000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr2:55601800-55644600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:55623200-55644400	Weak transcription	Fetal Kidney	kidney
6	chr2:55624400-55645600	Weak transcription	Ovary	ovary
7	chr2:55628600-55646000	Weak transcription	Esophagus	oesophagus
8	chr2:55630400-55645800	Weak transcription	Primary B cells from peripheral blood	blood
9	chr2:55630600-55644200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr2:55630800-55644800	Weak transcription	Stomach Smooth Muscle	stomach
11	chr2:55630800-55645200	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr2:55630800-55645200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr2:55631000-55645400	Weak transcription	Placenta	Placenta
14	chr2:55631800-55645200	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr2:55632000-55644800	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr2:55632600-55645800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:55632800-55645800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr2:55633000-55645000	Weak transcription	Liver	Liver
19	chr2:55633000-55645800	Weak transcription	Fetal Intestine Small	intestine
20	chr2:55633000-55645800	Weak transcription	Spleen	Spleen
21	chr2:55633000-55646000	Weak transcription	Lung	lung
22	chr2:55633200-55644800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr2:55636200-55644200	Weak transcription	Fetal Heart	heart
24	chr2:55636600-55643200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr2:55636600-55644000	Weak transcription	HSMMtube	muscle
26	chr2:55636800-55644000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr2:55636800-55644000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr2:55636800-55644000	Weak transcription	Primary hematopoietic stem cells	blood
29	chr2:55636800-55644400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:55636800-55645600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr2:55637400-55644600	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr2:55637400-55645000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr2:55637600-55643200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr2:55638600-55644400	Weak transcription	Fetal Intestine Large	intestine
35	chr2:55639800-55644000	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr2:55639800-55644400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr2:55639800-55645600	Weak transcription	Aorta	Aorta
38	chr2:55639800-55645800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr2:55640000-55644200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr2:55640000-55645600	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr2:55640200-55645800	Weak transcription	Left Ventricle	heart
42	chr2:55640400-55644200	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr2:55640400-55644400	Weak transcription	NHEK	skin
44	chr2:55640400-55645600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr2:55640600-55643800	Weak transcription	NHDF-Ad	bronchial
46	chr2:55640600-55644400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr2:55640600-55645400	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr2:55640800-55643800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr2:55640800-55643800	Weak transcription	Adipose Nuclei	Adipose
50	chr2:55640800-55644000	Enhancers	Fetal Brain Male	brain

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