Variant report

Variant	rs62305057
Chromosome Location	chr4:100823314-100823315
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:100810623..100827791-chr4:100865444..100874425,55	K562	blood:
2	chr4:100822597..100824617-chr4:100866275..100869392,5	K562	blood:
3	chr4:100815631..100818960-chr4:100821744..100826195,4	K562	blood:
4	chr4:100819394..100821526-chr4:100823145..100825504,2	K562	blood:

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

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

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10516459	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12431	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs15924	0.95[EUR][1000 genomes]
rs17539582	0.95[EUR][1000 genomes]
rs17539883	0.95[EUR][1000 genomes]
rs17541426	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17541690	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17612178	0.83[EUR][1000 genomes]
rs17613746	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17614270	0.83[EUR][1000 genomes]
rs2866181	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	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62305053	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62305055	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62305056	0.98[EUR][1000 genomes]
rs62305059	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62306060	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62306061	0.87[EUR][1000 genomes]
rs62306063	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62306064	0.83[EUR][1000 genomes]
rs62306066	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62306067	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62306068	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62306069	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62306070	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62306071	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62306072	0.80[EUR][1000 genomes]
rs62306073	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs62306075	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62306084	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62306085	0.88[EUR][1000 genomes]
rs62306111	0.83[EUR][1000 genomes]
rs62306113	0.81[EUR][1000 genomes]
rs62306115	0.81[EUR][1000 genomes]
rs767652	0.95[EUR][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	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
2	nsv980462	chr4:100819647-100825036	Strong transcription Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 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	chr4:100816000-100829600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr4:100816000-100839800	Weak transcription	Esophagus	oesophagus
4	chr4:100816000-100867000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr4:100816000-100867000	Weak transcription	Lung	lung
6	chr4:100816200-100823400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr4:100816200-100823400	Weak transcription	Brain Anterior Caudate	brain
8	chr4:100816200-100823400	Weak transcription	HSMMtube	muscle
9	chr4:100816200-100823600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr4:100816200-100823800	Weak transcription	Brain Angular Gyrus	brain
11	chr4:100816200-100827000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr4:100816200-100827200	Weak transcription	Brain Hippocampus Middle	brain
13	chr4:100816200-100827400	Weak transcription	K562	blood
14	chr4:100816200-100837600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr4:100816200-100838000	Weak transcription	Fetal Stomach	stomach
16	chr4:100816200-100838800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr4:100816200-100839800	Weak transcription	Aorta	Aorta
18	chr4:100816200-100840200	Weak transcription	Colonic Mucosa	Colon
19	chr4:100816200-100842200	Weak transcription	Pancreas	Pancrea
20	chr4:100816200-100851400	Weak transcription	A549	lung
21	chr4:100816200-100851600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr4:100816200-100853600	Weak transcription	NHLF	lung
23	chr4:100816200-100866200	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr4:100816400-100823400	Weak transcription	Primary hematopoietic stem cells	blood
25	chr4:100816400-100823400	Weak transcription	Fetal Muscle Leg	muscle
26	chr4:100816400-100823400	Weak transcription	Psoas Muscle	Psoas
27	chr4:100816400-100824000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr4:100816400-100824600	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr4:100816400-100827000	Weak transcription	Fetal Brain Male	brain
30	chr4:100816400-100827000	Weak transcription	Fetal Muscle Trunk	muscle
31	chr4:100816400-100827200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr4:100816400-100828600	Weak transcription	HepG2	liver
33	chr4:100816400-100830600	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr4:100816400-100837400	Weak transcription	Thymus	Thymus
35	chr4:100816400-100845800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr4:100816600-100823600	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr4:100816600-100823800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr4:100816600-100823800	Weak transcription	Brain Substantia Nigra	brain
39	chr4:100816600-100824400	Weak transcription	Fetal Brain Female	brain
40	chr4:100816600-100827000	Weak transcription	Brain Germinal Matrix	brain
41	chr4:100816600-100827200	Weak transcription	Colon Smooth Muscle	Colon
42	chr4:100816600-100827400	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr4:100816600-100837400	Weak transcription	Fetal Intestine Small	intestine
44	chr4:100816600-100839600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr4:100816600-100839800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr4:100816600-100841800	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr4:100816600-100843800	Weak transcription	Right Ventricle	heart
48	chr4:100816800-100823600	Weak transcription	Fetal Lung	lung
49	chr4:100816800-100826800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr4:100817800-100836400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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