Variant report

Variant	rs2278811
Chromosome Location	chr4:121844718-121844719
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr4:121842884-121844814	IMR90	lung:	n/a	chr4:121843282-121843291 chr4:121843446-121843456
2	KAP1	chr4:121843791-121844855	HEK293	kidney:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC079341.1-10	chr4:121843097-121844760	NONHSAT098131

Variant related genes	Relation type
PRDM5	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10034779	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11931234	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11935242	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11939905	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11942376	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11942389	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1376101	1.00[AFR][1000 genomes]
rs17051269	1.00[AFR][1000 genomes]
rs17051274	1.00[AFR][1000 genomes]
rs17051280	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3761726	0.93[ASN][1000 genomes]
rs4833690	1.00[AFR][1000 genomes]
rs4833695	0.81[ASN][1000 genomes]
rs55930284	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55962052	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56004809	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56270962	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56339840	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60983006	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6857653	0.81[ASN][1000 genomes]
rs73843656	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73843658	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73843660	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7689532	0.81[ASN][1000 genomes]
rs885460	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][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	nsv998094	chr4:121504565-122374203	Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1009395	chr4:121841442-122557363	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv537235	chr4:121841442-122557363	Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	esv3405799	chr4:121842552-121845050	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:121842400-121844800	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr4:121842600-121844800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr4:121842800-121844800	Active TSS	Duodenum Smooth Muscle	Duodenum
4	chr4:121842800-121844800	Active TSS	Psoas Muscle	Psoas
5	chr4:121842800-121844800	Active TSS	HSMM	muscle
6	chr4:121842800-121845000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr4:121842800-121845000	Active TSS	NHLF	lung
8	chr4:121843000-121844800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr4:121843000-121844800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr4:121843000-121844800	Active TSS	Pancreas	Pancrea
11	chr4:121843000-121844800	Active TSS	Rectal Mucosa Donor 31	rectum
12	chr4:121843000-121845000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr4:121844000-121844800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
14	chr4:121844200-121844800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr4:121844200-121844800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr4:121844200-121844800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr4:121844200-121844800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
18	chr4:121844200-121844800	Flanking Active TSS	Adipose Nuclei	Adipose
19	chr4:121844200-121844800	Flanking Active TSS	Colon Smooth Muscle	Colon
20	chr4:121844200-121844800	Active TSS	Fetal Brain Male	brain
21	chr4:121844200-121844800	Flanking Active TSS	HUVEC	blood vessel
22	chr4:121844200-121844800	Flanking Active TSS	NHEK	skin
23	chr4:121844200-121845000	Flanking Active TSS	Osteobl	bone
24	chr4:121844400-121844800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr4:121844400-121844800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr4:121844400-121844800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr4:121844400-121844800	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr4:121844400-121844800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr4:121844400-121844800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
30	chr4:121844400-121844800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr4:121844400-121844800	Flanking Active TSS	Duodenum Mucosa	Duodenum
32	chr4:121844400-121844800	Flanking Active TSS	Fetal Heart	heart
33	chr4:121844400-121844800	Flanking Active TSS	Fetal Kidney	kidney
34	chr4:121844400-121844800	Enhancers	Placenta Amnion	Placenta Amnion
35	chr4:121844400-121844800	Flanking Active TSS	Rectal Smooth Muscle	rectum
36	chr4:121844400-121845000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
37	chr4:121844400-121845000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
38	chr4:121844400-121845000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
39	chr4:121844600-121844800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
40	chr4:121844600-121844800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr4:121844600-121844800	Flanking Active TSS	H9 Cell Line	embryonic stem cell
42	chr4:121844600-121844800	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr4:121844600-121844800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
44	chr4:121844600-121844800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
45	chr4:121844600-121844800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr4:121844600-121844800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr4:121844600-121844800	Enhancers	Primary T helper naive cells from peripheral blood	blood
48	chr4:121844600-121844800	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr4:121844600-121844800	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr4:121844600-121844800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood

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