Variant report

Variant	rs72914408
Chromosome Location	chr4:120218844-120218845
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:120133055..120136111-chr4:120217896..120220637,3	MCF-7	breast:
2	chr4:120130951..120136158-chr4:120218006..120223072,8	K562	blood:
3	chr4:120216851..120219563-chr4:120219999..120222854,2	K562	blood:
4	chr4:119919801..119922456-chr4:120217871..120220047,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164096	Chromatin interaction
ENSG00000145390	Chromatin interaction
ENSG00000178636	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17050184	1.00[EUR][1000 genomes]
rs28374283	1.00[EUR][1000 genomes]
rs34084107	1.00[EUR][1000 genomes]
rs57153990	1.00[EUR][1000 genomes]
rs59511625	1.00[AMR][1000 genomes]
rs60058568	1.00[EUR][1000 genomes]
rs72912496	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72914405	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72914420	1.00[EUR][1000 genomes]
rs72914448	1.00[EUR][1000 genomes]
rs72914449	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72914466	1.00[EUR][1000 genomes]
rs72916519	1.00[EUR][1000 genomes]
rs72920606	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916641	chr4:119780023-120777320	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv1012868	chr4:120014630-120464880	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv537232	chr4:120014630-120464880	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv428769	chr4:120205572-120363323	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:120136200-120219200	Weak transcription	Brain Angular Gyrus	brain
2	chr4:120177000-120220200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:120177000-120220200	Weak transcription	Pancreas	Pancrea
4	chr4:120187000-120219200	Weak transcription	Right Ventricle	heart
5	chr4:120193000-120219200	Weak transcription	Fetal Brain Male	brain
6	chr4:120201200-120220200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr4:120201200-120220200	Weak transcription	Gastric	stomach
8	chr4:120201400-120220200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr4:120202000-120220200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr4:120206400-120219200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr4:120206400-120219600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr4:120206400-120219800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
13	chr4:120206400-120219800	Weak transcription	Brain Substantia Nigra	brain
14	chr4:120206400-120220000	Weak transcription	Colonic Mucosa	Colon
15	chr4:120206600-120219200	Weak transcription	Hela-S3	cervix
16	chr4:120206600-120219600	Weak transcription	Brain Hippocampus Middle	brain
17	chr4:120206600-120219800	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr4:120206600-120220200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr4:120206800-120219200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr4:120206800-120219200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr4:120206800-120220200	Weak transcription	Stomach Mucosa	stomach
22	chr4:120207600-120219400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr4:120207600-120219800	Weak transcription	Rectal Smooth Muscle	rectum
24	chr4:120208400-120219200	Weak transcription	Fetal Heart	heart
25	chr4:120211400-120219200	Strong transcription	NHDF-Ad	bronchial
26	chr4:120211600-120219200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr4:120214400-120219000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr4:120214400-120219400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr4:120214400-120220000	Weak transcription	Thymus	Thymus
30	chr4:120214400-120220200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr4:120214400-120220200	Weak transcription	Esophagus	oesophagus
32	chr4:120214400-120220200	Weak transcription	Lung	lung
33	chr4:120216200-120219400	Strong transcription	Placenta	Placenta
34	chr4:120216600-120219200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr4:120216600-120219200	Strong transcription	Primary T cells from cord blood	blood
36	chr4:120216600-120219600	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr4:120216600-120219800	Strong transcription	Primary B cells from peripheral blood	blood
38	chr4:120216800-120219000	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr4:120216800-120219000	Strong transcription	Rectal Mucosa Donor 31	rectum
40	chr4:120216800-120219200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr4:120216800-120219400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr4:120216800-120219800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
43	chr4:120217000-120219200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr4:120217000-120219200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr4:120217000-120219200	Strong transcription	NHLF	lung
46	chr4:120217000-120219800	Strong transcription	Fetal Thymus	thymus
47	chr4:120217000-120220200	Weak transcription	Spleen	Spleen
48	chr4:120217200-120219200	Strong transcription	Osteobl	bone
49	chr4:120217200-120219400	Weak transcription	HSMMtube	muscle
50	chr4:120217400-120219200	Strong transcription	Primary neutrophils fromperipheralblood	blood

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