Variant report

Variant	rs401463
Chromosome Location	chr4:48344791-48344792
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:48343471..48345353-chr4:48369021..48370568,2	MCF-7	breast:
2	chr4:48270141..48273598-chr4:48341900..48344865,7	K562	blood:
3	chr4:48343572..48346544-chr4:48354204..48356298,2	K562	blood:
4	chr4:48344085..48345850-chr4:48830456..48833422,2	K562	blood:
5	chr4:48343973..48346063-chr4:48356828..48359174,2	K562	blood:
6	chr4:48269261..48273807-chr4:48342628..48344865,6	K562	blood:

Variant related genes	Relation type
ENSG00000109180	Chromatin interaction
ENSG00000135605	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs13101954	0.83[EUR][1000 genomes]
rs13142082	0.81[EUR][1000 genomes]
rs1352432	0.83[EUR][1000 genomes]
rs1466631	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1844149	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2029347	0.83[EUR][1000 genomes]
rs2291476	0.83[EUR][1000 genomes]
rs28840724	0.82[EUR][1000 genomes]
rs34239305	0.81[EUR][1000 genomes]
rs35265097	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs366168	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs375259	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs384885	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs393338	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3943122	0.83[EUR][1000 genomes]
rs397257	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs409911	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4694894	0.83[EUR][1000 genomes]
rs4695374	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs565234	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs565385	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62309450	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6447629	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs66671150	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6819696	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6819847	0.83[EUR][1000 genomes]
rs73246021	0.83[EUR][1000 genomes]
rs73246023	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006610	chr4:48209294-48415387	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv537085	chr4:48209294-48415387	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	esv3377721	chr4:48342220-48345068	Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48342000-48345400	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr4:48342000-48345400	Active TSS	Fetal Intestine Large	intestine
3	chr4:48342000-48345600	Active TSS	Fetal Intestine Small	intestine
4	chr4:48342200-48345200	Active TSS	H9 Cell Line	embryonic stem cell
5	chr4:48342200-48345200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr4:48342200-48345200	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr4:48342200-48345200	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr4:48342200-48345400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr4:48342200-48345400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr4:48342200-48345400	Active TSS	Brain Anterior Caudate	brain
11	chr4:48342200-48345600	Active TSS	H1 Cell Line	embryonic stem cell
12	chr4:48342200-48345800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr4:48342400-48344800	Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr4:48342400-48344800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr4:48342400-48344800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr4:48342400-48344800	Active TSS	Brain Hippocampus Middle	brain
17	chr4:48342400-48344800	Active TSS	Esophagus	oesophagus
18	chr4:48342400-48345000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr4:48342400-48345000	Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr4:48342400-48345000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr4:48342400-48345000	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr4:48342400-48345200	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr4:48342400-48345200	Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr4:48342400-48345200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
25	chr4:48342400-48345200	Active TSS	Brain Angular Gyrus	brain
26	chr4:48342400-48345200	Active TSS	Colon Smooth Muscle	Colon
27	chr4:48342400-48345200	Active TSS	Fetal Muscle Trunk	muscle
28	chr4:48342400-48345200	Active TSS	Left Ventricle	heart
29	chr4:48342400-48345400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr4:48342400-48345400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr4:48342400-48345400	Active TSS	Duodenum Smooth Muscle	Duodenum
32	chr4:48342400-48345400	Active TSS	Ovary	ovary
33	chr4:48342400-48345600	Active TSS	Brain Germinal Matrix	brain
34	chr4:48342400-48346000	Active TSS	Aorta	Aorta
35	chr4:48342400-48346200	Active TSS	Psoas Muscle	Psoas
36	chr4:48342400-48346200	Active TSS	Stomach Smooth Muscle	stomach
37	chr4:48342400-48346600	Active TSS	Right Ventricle	heart
38	chr4:48342600-48344800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr4:48342600-48344800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr4:48342600-48344800	Active TSS	Pancreas	Pancrea
41	chr4:48342600-48344800	Active TSS	Sigmoid Colon	Sigmoid Colon
42	chr4:48342600-48344800	Active TSS	Stomach Mucosa	stomach
43	chr4:48342600-48345000	Active TSS	Fetal Lung	lung
44	chr4:48342600-48345000	Active TSS	Rectal Mucosa Donor 29	rectum
45	chr4:48342600-48345000	Active TSS	Small Intestine	intestine
46	chr4:48342600-48345000	Active TSS	Osteobl	bone
47	chr4:48342600-48345200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr4:48342600-48345200	Active TSS	Fetal Brain Female	brain
49	chr4:48342600-48345200	Active TSS	Fetal Kidney	kidney
50	chr4:48342600-48345200	Active TSS	Fetal Thymus	thymus

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