Variant report

Variant	rs72661094
Chromosome Location	chr4:73936926-73936927
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr4:73936747-73937223	K562	blood:	n/a	n/a
2	POLR2A	chr4:73933813-73937087	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr4:73933987-73938824	HepG2	liver:	n/a	n/a
4	POLR2A	chr4:73933640-73936997	GM12878	blood:	n/a	n/a
5	POLR2A	chr4:73933621-73937074	GM12891	blood:	n/a	n/a
6	POLR2A	chr4:73933774-73940652	K562	blood:	n/a	n/a
7	POLR2A	chr4:73936708-73937072	HepG2	liver:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:73932730..73938383-chr4:74120374..74126369,19	MCF-7	breast:
2	chr4:73932413..73938405-chr4:74120693..74126649,20	K562	blood:
3	chr4:73933853..73938156-chr4:74122325..74126609,11	MCF-7	breast:
4	chr4:73933733..73940261-chr4:73944971..73951272,10	K562	blood:
5	chr4:73935570..73937453-chr4:73954326..73955841,2	K562	blood:
6	chr4:73935991..73938243-chr4:73939866..73943028,3	MCF-7	breast:
7	chr4:73936677..73938384-chr4:73949086..73951133,2	K562	blood:
8	chr4:73935861..73937435-chr4:73951806..73953898,2	K562	blood:
9	chr4:73934483..73937170-chr4:73967043..73968673,2	K562	blood:
10	chr4:73935697..73938627-chr4:73959449..73961748,2	K562	blood:
11	chr4:73929823..73938112-chr4:74120693..74129342,27	K562	blood:

No data

Variant related genes	Relation type
COX18	TF binding region
ENSG00000250220	Chromatin interaction
ENSG00000132466	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs28848526	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949371	chr4:73678470-74094500	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv432611	chr4:73740665-74099265	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv523169	chr4:73752242-74120910	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv998707	chr4:73753922-74044843	Weak transcription Strong transcription Genic enhancers Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv537136	chr4:73753922-74044843	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv917017	chr4:73754127-74044830	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv1013174	chr4:73785324-74031884	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	nsv537137	chr4:73785324-74031884	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
9	nsv1012068	chr4:73817769-74003079	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
10	nsv1014088	chr4:73817769-74031884	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
11	nsv537138	chr4:73817769-74031884	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
12	nsv533502	chr4:73819067-74044813	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
13	esv1849323	chr4:73926670-74115116	Strong transcription Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 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	chr4:73935600-73943600	Weak transcription	Spleen	Spleen
2	chr4:73935800-73941600	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr4:73935800-73942400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr4:73935800-73942400	Weak transcription	Small Intestine	intestine
5	chr4:73935800-73943600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr4:73936000-73938800	Weak transcription	Hela-S3	cervix
7	chr4:73936000-73940400	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr4:73936000-73940600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr4:73936000-73941000	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr4:73936000-73941600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr4:73936000-73941600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr4:73936000-73941600	Weak transcription	Left Ventricle	heart
13	chr4:73936000-73941800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr4:73936000-73941800	Weak transcription	Ovary	ovary
15	chr4:73936000-73942600	Weak transcription	Lung	lung
16	chr4:73936000-73956400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr4:73936000-73956400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr4:73936000-73956400	Weak transcription	Aorta	Aorta
19	chr4:73936000-73956400	Weak transcription	Esophagus	oesophagus
20	chr4:73936000-73956400	Weak transcription	Gastric	stomach
21	chr4:73936000-73956400	Weak transcription	Pancreas	Pancrea
22	chr4:73936000-73956800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr4:73936000-73969600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr4:73936200-73937200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr4:73936200-73937400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr4:73936200-73937600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr4:73936200-73937600	Weak transcription	Placenta	Placenta
28	chr4:73936200-73937800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr4:73936200-73938000	Weak transcription	GM12878-XiMat	blood
30	chr4:73936200-73938400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr4:73936200-73938600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr4:73936200-73938600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr4:73936200-73938600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr4:73936200-73938600	Weak transcription	Liver	Liver
35	chr4:73936200-73938600	Weak transcription	HSMM	muscle
36	chr4:73936200-73938800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr4:73936200-73938800	Weak transcription	HMEC	breast
38	chr4:73936200-73938800	Weak transcription	NHDF-Ad	bronchial
39	chr4:73936200-73939000	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr4:73936200-73939200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr4:73936200-73939200	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr4:73936200-73939200	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr4:73936200-73939400	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr4:73936200-73939400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr4:73936200-73939600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr4:73936200-73939600	Weak transcription	HUVEC	blood vessel
47	chr4:73936200-73940000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr4:73936200-73940400	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr4:73936200-73940400	Weak transcription	Fetal Thymus	thymus
50	chr4:73936200-73940400	Weak transcription	NHLF	lung

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