Variant report

Variant	rs72613109
Chromosome Location	chr4:659841-659842
allele	C/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	POLR2A	chr4:659805-660006	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:658187..662144-chr4:672176..676426,5	MCF-7	breast:
2	chr4:604595..606902-chr4:659011..661677,2	MCF-7	breast:
3	chr4:624127..625792-chr4:659574..661910,2	K562	blood:
4	chr4:540175..542143-chr4:659045..660940,2	K562	blood:

Variant related genes	Relation type
ENSG00000272927	TF binding region
ENSG00000215375	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10033239	0.85[ASN][1000 genomes]
rs28502612	0.90[ASN][1000 genomes]
rs28520978	0.89[ASN][1000 genomes]
rs28711586	0.88[ASN][1000 genomes]
rs67376373	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011715	chr4:43860-823487	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	esv2830422	chr4:72247-681939	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv931097	chr4:72447-683874	Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv532702	chr4:72447-755236	Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
5	nsv1005224	chr4:507005-900281	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Strong transcription Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	nsv536976	chr4:507005-900281	Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
7	nsv878245	chr4:509178-694613	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	nsv822425	chr4:540105-1413799	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
9	nsv878246	chr4:592507-696848	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
10	esv2757916	chr4:603208-931354	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
11	esv2759217	chr4:603208-931354	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
12	nsv878247	chr4:607202-925149	Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
13	nsv530490	chr4:614355-1399150	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
14	nsv593206	chr4:625962-735150	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
15	nsv878248	chr4:645300-685993	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
16	nsv878249	chr4:649639-691026	Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
17	esv1829397	chr4:655939-1041957	Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:658000-664400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:658000-667000	Weak transcription	Small Intestine	intestine
3	chr4:658000-667400	Weak transcription	Aorta	Aorta
4	chr4:658200-660000	Enhancers	Brain Cingulate Gyrus	brain
5	chr4:658200-660400	Enhancers	Brain Inferior Temporal Lobe	brain
6	chr4:658200-660600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr4:658200-660600	Enhancers	Brain Hippocampus Middle	brain
8	chr4:658200-664400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr4:658200-664400	Weak transcription	Colon Smooth Muscle	Colon
10	chr4:658200-664400	Weak transcription	Duodenum Mucosa	Duodenum
11	chr4:658200-664400	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr4:658200-664600	Weak transcription	Pancreas	Pancrea
13	chr4:658200-664600	Weak transcription	HUVEC	blood vessel
14	chr4:658200-664800	Weak transcription	Gastric	stomach
15	chr4:658200-665000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr4:658200-666800	Weak transcription	Right Atrium	heart
17	chr4:658200-667000	Weak transcription	Stomach Mucosa	stomach
18	chr4:658200-667200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr4:658400-660000	Enhancers	Brain Angular Gyrus	brain
20	chr4:658400-660200	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr4:658400-660200	Enhancers	Brain Anterior Caudate	brain
22	chr4:658400-660400	Enhancers	Fetal Muscle Leg	muscle
23	chr4:658400-660800	Enhancers	Brain Substantia Nigra	brain
24	chr4:658400-662000	Enhancers	Fetal Muscle Trunk	muscle
25	chr4:658400-663600	Weak transcription	Fetal Stomach	stomach
26	chr4:658400-663800	Weak transcription	Primary T cells from cord blood	blood
27	chr4:658400-663800	Weak transcription	Brain Germinal Matrix	brain
28	chr4:658400-664400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr4:658400-664400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr4:658400-664400	Weak transcription	Liver	Liver
31	chr4:658400-664400	Weak transcription	Left Ventricle	heart
32	chr4:658400-664400	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr4:658400-664400	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr4:658400-664400	Weak transcription	Rectal Smooth Muscle	rectum
35	chr4:658400-664400	Weak transcription	HMEC	breast
36	chr4:658400-664600	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr4:658400-664600	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr4:658400-664600	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr4:658400-664600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr4:658400-664600	Weak transcription	Fetal Brain Female	brain
41	chr4:658400-664600	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr4:658400-664600	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr4:658400-664600	Weak transcription	NH-A	brain
44	chr4:658400-664800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr4:658400-665000	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr4:658400-665000	Weak transcription	Fetal Lung	lung
47	chr4:658400-665200	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr4:658400-665200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr4:658400-665200	Weak transcription	Right Ventricle	heart
50	chr4:658400-665400	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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