Variant report

Variant	rs62305059
Chromosome Location	chr4:100830324-100830325
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Distal block	Cell Line	Cell type
1	chr4:100828518..100831140-chr4:100831923..100834406,2	MCF-7	breast:
2	chr4:100829105..100832662-chr4:100869890..100872663,3	K562	blood:
3	chr4:100829302..100831359-chr4:100831716..100834419,2	K562	blood:
4	chr4:100829237..100831796-chr4:100869883..100872007,2	K562	blood:
5	chr4:100829396..100833198-chr4:100836822..100839868,3	MCF-7	breast:
6	chr4:100829377..100831319-chr4:100866385..100868040,2	K562	blood:
7	chr4:100814397..100818652-chr4:100830077..100834808,4	MCF-7	breast:
8	chr4:100829145..100832767-chr4:100832919..100836053,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000164031	Chromatin interaction
ENSG00000109270	Chromatin interaction
ENSG00000245322	Chromatin interaction
ENSG00000164032	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10516459	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12431	0.95[EUR][1000 genomes]
rs15924	0.95[EUR][1000 genomes]
rs17539582	0.95[EUR][1000 genomes]
rs17539883	0.95[EUR][1000 genomes]
rs17541426	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17541690	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17612178	0.83[EUR][1000 genomes]
rs17613746	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17614270	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2866181	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs41275723	0.97[EUR][1000 genomes]
rs62305039	0.83[EUR][1000 genomes]
rs62305041	0.93[EUR][1000 genomes]
rs62305044	0.83[EUR][1000 genomes]
rs62305046	0.97[EUR][1000 genomes]
rs62305049	0.85[EUR][1000 genomes]
rs62305052	0.97[EUR][1000 genomes]
rs62305053	0.97[EUR][1000 genomes]
rs62305055	0.97[EUR][1000 genomes]
rs62305056	0.98[EUR][1000 genomes]
rs62305057	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62306060	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62306061	0.87[EUR][1000 genomes]
rs62306063	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62306064	0.83[EUR][1000 genomes]
rs62306066	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62306067	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62306068	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62306069	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62306070	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62306071	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62306072	0.80[EUR][1000 genomes]
rs62306073	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62306075	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62306084	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62306085	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62306111	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62306113	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62306115	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62306136	0.85[AMR][1000 genomes]
rs767652	0.95[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv879661	chr4:100805207-100869635	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:100815600-100840000	Weak transcription	Small Intestine	intestine
2	chr4:100816000-100839800	Weak transcription	Esophagus	oesophagus
3	chr4:100816000-100867000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr4:100816000-100867000	Weak transcription	Lung	lung
5	chr4:100816200-100837600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr4:100816200-100838000	Weak transcription	Fetal Stomach	stomach
7	chr4:100816200-100838800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr4:100816200-100839800	Weak transcription	Aorta	Aorta
9	chr4:100816200-100840200	Weak transcription	Colonic Mucosa	Colon
10	chr4:100816200-100842200	Weak transcription	Pancreas	Pancrea
11	chr4:100816200-100851400	Weak transcription	A549	lung
12	chr4:100816200-100851600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr4:100816200-100853600	Weak transcription	NHLF	lung
14	chr4:100816200-100866200	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr4:100816400-100830600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr4:100816400-100837400	Weak transcription	Thymus	Thymus
17	chr4:100816400-100845800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr4:100816600-100837400	Weak transcription	Fetal Intestine Small	intestine
19	chr4:100816600-100839600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr4:100816600-100839800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr4:100816600-100841800	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr4:100816600-100843800	Weak transcription	Right Ventricle	heart
23	chr4:100817800-100836400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr4:100818600-100831600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr4:100819000-100831000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr4:100819000-100838600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr4:100819600-100839800	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr4:100820000-100830400	Strong transcription	Rectal Mucosa Donor 29	rectum
29	chr4:100820000-100866200	Weak transcription	Fetal Heart	heart
30	chr4:100820600-100830400	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr4:100820600-100834800	Strong transcription	Dnd41	blood
32	chr4:100820600-100838400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr4:100820800-100831400	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr4:100821000-100830600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr4:100821600-100833600	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr4:100821600-100833800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr4:100822000-100830400	Strong transcription	Liver	Liver
38	chr4:100822000-100830800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr4:100822200-100830800	Strong transcription	GM12878-XiMat	blood
40	chr4:100822200-100831400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr4:100822400-100830800	Strong transcription	Primary B cells from peripheral blood	blood
42	chr4:100822800-100830400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr4:100823000-100831200	Strong transcription	Primary B cells from cord blood	blood
44	chr4:100823400-100830600	Strong transcription	HSMM	muscle
45	chr4:100823600-100833000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr4:100823600-100845600	Weak transcription	Hela-S3	cervix
47	chr4:100823800-100838600	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr4:100823800-100839800	Weak transcription	Ovary	ovary
49	chr4:100824000-100865800	Weak transcription	Psoas Muscle	Psoas
50	chr4:100824200-100838400	Weak transcription	Brain Inferior Temporal Lobe	brain

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