Variant report

Variant	rs56074877
Chromosome Location	chr4:6990374-6990375
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:6990131..6992286-chr4:6999504..7002082,2	MCF-7	breast:
2	chr4:6987851..6990703-chr4:7053695..7056080,2	MCF-7	breast:
3	chr4:6782714..6785893-chr4:6989936..6993084,3	K562	blood:
4	chr4:6989642..6991738-chr4:7006793..7008969,2	K562	blood:
5	chr4:6716379..6718231-chr4:6987707..6990478,2	K562	blood:
6	chr4:6989598..6991738-chr4:7007469..7010160,2	K562	blood:
7	chr4:6783058..6785294-chr4:6987568..6991326,3	MCF-7	breast:
8	chr4:6981814..6984780-chr4:6988944..6991170,2	MCF-7	breast:
9	chr4:6988801..6990522-chr4:7000909..7003794,2	MCF-7	breast:
10	chr4:6690654..6692400-chr4:6990109..6991782,2	K562	blood:
11	chr4:6909371..6913138-chr4:6987040..6991863,16	MCF-7	breast:
12	chr4:6987653..6990708-chr4:7043238..7045970,4	MCF-7	breast:
13	chr4:6715191..6718231-chr4:6987509..6990478,3	K562	blood:
14	chr4:6909040..6912883-chr4:6987028..6993211,15	MCF-7	breast:
15	chr4:6989121..6990738-chr4:7030728..7033595,2	MCF-7	breast:
16	chr4:6988789..6991540-chr4:7069432..7071324,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000132405	Chromatin interaction
ENSG00000170871	Chromatin interaction
ENSG00000246526	Chromatin interaction
ENSG00000173011	Chromatin interaction
ENSG00000173013	Chromatin interaction
ENSG00000186222	Chromatin interaction
ENSG00000109519	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1048009	1.00[EUR][1000 genomes]
rs55633489	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55659111	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs55672215	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55833486	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55913461	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs55942328	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56031152	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56081162	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56097119	0.87[EUR][1000 genomes]
rs56300156	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56320732	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56350643	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56400338	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs59742225	0.86[AMR][1000 genomes]
rs59809420	0.82[AMR][1000 genomes]
rs66519732	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66573146	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs66645969	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67067921	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs67315413	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67702333	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs68111914	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6836225	0.91[AMR][1000 genomes]
rs6838042	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6838250	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6841389	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6851488	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73088528	0.83[AMR][1000 genomes]
rs73088564	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73202120	1.00[EUR][1000 genomes]
rs73202122	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7668802	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7675281	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7686168	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7686186	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9942188	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv878530	chr4:6888932-7058473	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	esv34033	chr4:6973270-7390621	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv2757919	chr4:6988148-7269901	Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	esv2759221	chr4:6988148-7269901	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv428436	chr4:6988148-7269901	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:6988000-6990400	Active TSS	A549	lung
2	chr4:6988200-6990400	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr4:6989000-6990400	Flanking Active TSS	Colonic Mucosa	Colon
4	chr4:6989000-6990600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr4:6989000-6990600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
6	chr4:6989200-6990400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr4:6989200-6990400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr4:6989200-6990400	Flanking Active TSS	Duodenum Mucosa	Duodenum
9	chr4:6989200-6990400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
10	chr4:6989200-6990600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
11	chr4:6989200-6990600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
12	chr4:6989200-6990600	Flanking Active TSS	K562	blood
13	chr4:6989400-6990400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
14	chr4:6989400-6990400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
15	chr4:6989400-6990400	Flanking Active TSS	Brain Angular Gyrus	brain
16	chr4:6989400-6990400	Flanking Active TSS	Brain Anterior Caudate	brain
17	chr4:6989400-6990400	Flanking Active TSS	Brain Cingulate Gyrus	brain
18	chr4:6989400-6990400	Flanking Active TSS	Rectal Smooth Muscle	rectum
19	chr4:6989400-6990600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
20	chr4:6989400-6990600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr4:6989400-6990600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr4:6989400-6990600	Flanking Active TSS	Dnd41	blood
23	chr4:6989600-6990400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr4:6989600-6990400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr4:6989600-6990400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr4:6989600-6990400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr4:6989600-6990400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
28	chr4:6989600-6990400	Flanking Active TSS	Brain Hippocampus Middle	brain
29	chr4:6989600-6990400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
30	chr4:6989600-6990400	Flanking Active TSS	Colon Smooth Muscle	Colon
31	chr4:6989600-6990400	Flanking Active TSS	Hela-S3	cervix
32	chr4:6989600-6990400	Flanking Active TSS	HepG2	liver
33	chr4:6989600-6990400	Flanking Active TSS	Osteobl	bone
34	chr4:6989600-6990600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr4:6989600-6990600	Flanking Active TSS	Fetal Lung	lung
36	chr4:6989600-6990600	Flanking Active TSS	Stomach Smooth Muscle	stomach
37	chr4:6989600-6991000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr4:6989600-6991200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr4:6989600-6991400	Enhancers	Pancreas	Pancrea
40	chr4:6989600-6994400	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr4:6989800-6990400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr4:6989800-6990400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr4:6989800-6990400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
44	chr4:6989800-6990400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
45	chr4:6989800-6990400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr4:6989800-6990400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr4:6989800-6990400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
48	chr4:6989800-6990400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
49	chr4:6989800-6990400	Flanking Active TSS	HSMM	muscle
50	chr4:6989800-6990600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast

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