Variant report

Variant	rs72913044
Chromosome Location	chr4:100824277-100824278
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:100824272..100826576-chr4:100827614..100829425,2	K562	blood:
2	chr4:100810623..100827791-chr4:100865444..100874425,55	K562	blood:
3	chr4:100822597..100824617-chr4:100866275..100869392,5	K562	blood:
4	chr4:100815631..100818960-chr4:100821744..100826195,4	K562	blood:
5	chr4:100819394..100821526-chr4:100823145..100825504,2	K562	blood:

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

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs59943674	1.00[AFR][1000 genomes]
rs61449090	1.00[AFR][1000 genomes]
rs6811087	1.00[AFR][1000 genomes]
rs6812088	1.00[AFR][1000 genomes]
rs6813690	1.00[AFR][1000 genomes]
rs6828260	1.00[AFR][1000 genomes]
rs72913027	1.00[AFR][1000 genomes]
rs72915005	1.00[AFR][1000 genomes]
rs72915012	0.86[AFR][1000 genomes]
rs72915030	1.00[AFR][1000 genomes]
rs72915043	1.00[AFR][1000 genomes]
rs7685657	1.00[AFR][1000 genomes]
rs7688078	0.90[AFR][1000 genomes]
rs7690273	1.00[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	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	chr4:100816200-100827000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr4:100816200-100827200	Weak transcription	Brain Hippocampus Middle	brain
8	chr4:100816200-100827400	Weak transcription	K562	blood
9	chr4:100816200-100837600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr4:100816200-100838000	Weak transcription	Fetal Stomach	stomach
11	chr4:100816200-100838800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr4:100816200-100839800	Weak transcription	Aorta	Aorta
13	chr4:100816200-100840200	Weak transcription	Colonic Mucosa	Colon
14	chr4:100816200-100842200	Weak transcription	Pancreas	Pancrea
15	chr4:100816200-100851400	Weak transcription	A549	lung
16	chr4:100816200-100851600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr4:100816200-100853600	Weak transcription	NHLF	lung
18	chr4:100816200-100866200	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr4:100816400-100824600	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr4:100816400-100827000	Weak transcription	Fetal Brain Male	brain
21	chr4:100816400-100827000	Weak transcription	Fetal Muscle Trunk	muscle
22	chr4:100816400-100827200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr4:100816400-100828600	Weak transcription	HepG2	liver
24	chr4:100816400-100830600	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr4:100816400-100837400	Weak transcription	Thymus	Thymus
26	chr4:100816400-100845800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr4:100816600-100824400	Weak transcription	Fetal Brain Female	brain
28	chr4:100816600-100827000	Weak transcription	Brain Germinal Matrix	brain
29	chr4:100816600-100827200	Weak transcription	Colon Smooth Muscle	Colon
30	chr4:100816600-100827400	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr4:100816600-100837400	Weak transcription	Fetal Intestine Small	intestine
32	chr4:100816600-100839600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr4:100816600-100839800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr4:100816600-100841800	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr4:100816600-100843800	Weak transcription	Right Ventricle	heart
36	chr4:100816800-100826800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr4:100817800-100836400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr4:100818600-100831600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr4:100819000-100829600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr4:100819000-100831000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr4:100819000-100838600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr4:100819400-100829600	Strong transcription	HMEC	breast
43	chr4:100819600-100829800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr4:100819600-100839800	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr4:100819800-100829800	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr4:100820000-100825000	Strong transcription	HUVEC	blood vessel
47	chr4:100820000-100830400	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr4:100820000-100866200	Weak transcription	Fetal Heart	heart
49	chr4:100820600-100825800	Strong transcription	Muscle Satellite Cultured Cells	--
50	chr4:100820600-100830400	Strong transcription	HUES64 Cell Line	embryonic stem cell

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