Variant report

Variant	rs472689
Chromosome Location	chr4:75026068-75026069
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr4:75022256-75036597	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:74527976..74529636-chr4:75025474..75027779,2	K562	blood:
2	chr4:74920487..74923421-chr4:75023614..75026198,3	K562	blood:
3	chr4:75024505..75027399-chr4:75144223..75145811,2	K562	blood:
4	chr4:74528064..74529636-chr4:75024964..75026974,2	K562	blood:
5	chr4:75024456..75026319-chr4:75184021..75186282,2	K562	blood:
6	chr4:75024221..75026156-chr4:75163622..75165985,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EPGN-4	chr4:75025772-75026231	NONHSAT096883
2	lnc-EPGN-4	chr4:75025772-75026487	NONHSAT096884
3	lnc-EPGN-4	chr4:75025772-75027969	NONHSAT096885

No data

Variant related genes	Relation type
ENSG00000269559	TF binding region
ENSG00000248848	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1246766	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1261907	1.00[AMR][1000 genomes]
rs164755	1.00[AMR][1000 genomes]
rs164756	1.00[AMR][1000 genomes]
rs16850399	1.00[AMR][1000 genomes]
rs16850536	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs191613	1.00[AMR][1000 genomes]
rs2573028	1.00[AMR][1000 genomes]
rs352039	1.00[AMR][1000 genomes]
rs352040	1.00[AMR][1000 genomes]
rs352049	1.00[AMR][1000 genomes]
rs486154	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs488994	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs499451	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs505197	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs526993	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs539431	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs543325	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs550282	1.00[AMR][1000 genomes]
rs551055	1.00[AMR][1000 genomes]
rs570922	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs571068	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525980	chr4:74731526-75382209	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1004768	chr4:74774372-75109579	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv1006218	chr4:74782324-75105424	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv594683	chr4:75013441-75106485	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv1013260	chr4:75013441-75121643	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv1002907	chr4:75013441-75131443	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv1004706	chr4:75014770-75121643	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv594684	chr4:75015750-75106485	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:75024400-75032400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:75024600-75030400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr4:75024600-75034000	Weak transcription	Gastric	stomach
4	chr4:75024800-75026400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr4:75024800-75026400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr4:75024800-75027000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr4:75024800-75029000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr4:75024800-75032000	Weak transcription	Placenta	Placenta
9	chr4:75024800-75032400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr4:75024800-75032600	Weak transcription	Lung	lung
11	chr4:75024800-75033800	Weak transcription	Esophagus	oesophagus
12	chr4:75024800-75033800	Weak transcription	Stomach Mucosa	stomach
13	chr4:75024800-75034400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr4:75024800-75037000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr4:75024800-75056600	Weak transcription	Pancreas	Pancrea
16	chr4:75024800-75080600	Weak transcription	Left Ventricle	heart
17	chr4:75025000-75027400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr4:75025000-75029000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr4:75025000-75032400	Weak transcription	Fetal Muscle Trunk	muscle
20	chr4:75025000-75033600	Weak transcription	Fetal Stomach	stomach
21	chr4:75025000-75034000	Weak transcription	Fetal Muscle Leg	muscle
22	chr4:75025000-75046800	Weak transcription	NHDF-Ad	bronchial
23	chr4:75025200-75026400	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr4:75025200-75026400	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr4:75025200-75026400	Weak transcription	Stomach Smooth Muscle	stomach
26	chr4:75025200-75026600	Weak transcription	NH-A	brain
27	chr4:75025200-75027200	Weak transcription	Fetal Brain Female	brain
28	chr4:75025200-75027800	Weak transcription	Brain Anterior Caudate	brain
29	chr4:75025200-75028000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr4:75025200-75032400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr4:75025200-75041800	Weak transcription	Aorta	Aorta
32	chr4:75025200-75042600	Weak transcription	Brain Substantia Nigra	brain
33	chr4:75025400-75026200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr4:75025400-75026200	Weak transcription	Liver	Liver
35	chr4:75025400-75026400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr4:75025400-75026400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr4:75025400-75026400	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr4:75025400-75026400	Active TSS	GM12878-XiMat	blood
39	chr4:75025400-75026400	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr4:75025400-75026600	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr4:75025400-75026800	Weak transcription	HepG2	liver
42	chr4:75025400-75027200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr4:75025400-75027200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr4:75025400-75027200	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr4:75025400-75027400	Weak transcription	Brain Hippocampus Middle	brain
46	chr4:75025400-75027400	Weak transcription	Colon Smooth Muscle	Colon
47	chr4:75025400-75027400	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr4:75025400-75027400	Weak transcription	HSMMtube	muscle
49	chr4:75025400-75027600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr4:75025400-75027600	Weak transcription	Brain Cingulate Gyrus	brain

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