Variant report

Variant	rs73433076
Chromosome Location	chr18:44299013-44299014
allele	C/G
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	SIN3AK20	chr18:44298986-44299472	HCT-116	colon:	n/a	n/a
2	SP1	chr18:44298936-44299541	HCT-116	colon:	n/a	n/a
3	JUN	chr18:44298427-44299343	HUVEC	blood vessel:	n/a	chr18:44298610-44298618 chr18:44298610-44298619 chr18:44298580-44298591 chr18:44298611-44298618 chr18:44298609-44298618 chr18:44298615-44298624
4	GATA2	chr18:44298344-44299443	HUVEC	blood vessel:	n/a	chr18:44298608-44298617
5	POLR2A	chr18:44298205-44299764	U87	brain:	n/a	n/a
6	FOS	chr18:44298240-44299370	HUVEC	blood vessel:	n/a	chr18:44298608-44298619 chr18:44298610-44298618 chr18:44298610-44298619 chr18:44298580-44298591 chr18:44298611-44298618 chr18:44298609-44298618 chr18:44298615-44298624
7	FOSL1	chr18:44298889-44299459	HCT-116	colon:	n/a	n/a
8	POLR2A	chr18:44298211-44299764	U87	brain:	n/a	n/a
9	POLR2A	chr18:44298058-44299708	U87	brain:	n/a	n/a
10	FOS	chr18:44298396-44299264	MCF10A-Er-Src	breast:	n/a	chr18:44298608-44298619 chr18:44298610-44298618 chr18:44298610-44298619 chr18:44298580-44298591 chr18:44298611-44298618 chr18:44298609-44298618 chr18:44298615-44298624
11	FOS	chr18:44298211-44299300	MCF10A-Er-Src	breast:	n/a	chr18:44298608-44298619 chr18:44298610-44298618 chr18:44298610-44298619 chr18:44298580-44298591 chr18:44298611-44298618 chr18:44298609-44298618 chr18:44298615-44298624
12	POLR2A	chr18:44298333-44299450	HUVEC	blood vessel:	n/a	n/a
13	TEAD4	chr18:44298935-44299378	HCT-116	colon:	n/a	n/a
14	STAT3	chr18:44298958-44299250	MCF10A-Er-Src	breast:	n/a	chr18:44299146-44299153
15	CEBPB	chr18:44298913-44299496	HCT-116	colon:	n/a	n/a
16	JUND	chr18:44298875-44299469	HCT-116	colon:	n/a	n/a
17	POLR2A	chr18:44298245-44299708	U87	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:44295920..44298422-chr18:44298971..44300843,2	K562	blood:

Variant related genes	Relation type
ENSG00000240983	TF binding region

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs57248155	1.00[AMR][1000 genomes]
rs58933766	1.00[AMR][1000 genomes]
rs59096021	1.00[AMR][1000 genomes]
rs60527148	1.00[AMR][1000 genomes]
rs60870197	1.00[AMR][1000 genomes]
rs61397117	1.00[AMR][1000 genomes]
rs61710689	1.00[AMR][1000 genomes]
rs73433006	1.00[AMR][1000 genomes]
rs73433008	1.00[AMR][1000 genomes]
rs73433031	1.00[AMR][1000 genomes]
rs73433034	1.00[AMR][1000 genomes]
rs73433062	1.00[AMR][1000 genomes]
rs73433065	1.00[AMR][1000 genomes]
rs73433066	1.00[AMR][1000 genomes]
rs73434908	1.00[AMR][1000 genomes]
rs8099322	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428355	chr18:44160181-44406285	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv9629	chr18:44264693-44757511	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv909589	chr18:44279892-44330604	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv909590	chr18:44279892-44332911	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv909591	chr18:44279892-44370518	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv909592	chr18:44279892-44385150	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv909593	chr18:44279892-44396246	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
8	nsv909594	chr18:44279892-44400621	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
9	nsv909595	chr18:44279892-44422661	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
10	nsv909596	chr18:44291419-44330604	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv909597	chr18:44291419-44385150	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv909598	chr18:44291419-44422661	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
13	nsv909599	chr18:44294722-44385150	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv909600	chr18:44294722-44396246	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
15	nsv909601	chr18:44294722-44400621	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
16	nsv909602	chr18:44294722-44422661	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44297000-44301000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr18:44297200-44299600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr18:44298200-44299600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr18:44298200-44299600	Enhancers	Brain Angular Gyrus	brain
5	chr18:44298400-44299400	Enhancers	Fetal Heart	heart
6	chr18:44298400-44299400	Flanking Active TSS	HUVEC	blood vessel
7	chr18:44298400-44299600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr18:44298400-44299600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr18:44298400-44299600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr18:44298400-44299600	Enhancers	Muscle Satellite Cultured Cells	--
11	chr18:44298400-44299600	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr18:44298400-44299600	Enhancers	Ovary	ovary
13	chr18:44298400-44299600	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr18:44298400-44300200	Enhancers	Right Ventricle	heart
15	chr18:44298400-44300400	Enhancers	Right Atrium	heart
16	chr18:44298400-44300600	Enhancers	Osteobl	bone
17	chr18:44298600-44299200	Flanking Active TSS	NH-A	brain
18	chr18:44298600-44299400	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr18:44298600-44299600	Enhancers	Adipose Nuclei	Adipose
20	chr18:44298600-44299600	Bivalent Enhancer	Hela-S3	cervix
21	chr18:44298600-44299600	Flanking Active TSS	NHDF-Ad	bronchial
22	chr18:44298800-44299200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr18:44298800-44299400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr18:44298800-44299400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr18:44298800-44299400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
26	chr18:44298800-44299400	Enhancers	Brain Cingulate Gyrus	brain
27	chr18:44298800-44299400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
28	chr18:44298800-44299400	Enhancers	Fetal Muscle Leg	muscle
29	chr18:44298800-44299400	Enhancers	Gastric	stomach
30	chr18:44298800-44299400	Enhancers	Lung	lung
31	chr18:44298800-44299400	Enhancers	Psoas Muscle	Psoas
32	chr18:44298800-44299400	Flanking Active TSS	Stomach Smooth Muscle	stomach
33	chr18:44298800-44299400	Enhancers	NHLF	lung
34	chr18:44298800-44299600	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr18:44298800-44299600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr18:44298800-44299600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr18:44298800-44299600	Enhancers	Brain Hippocampus Middle	brain
38	chr18:44298800-44299600	Enhancers	Spleen	Spleen
39	chr18:44298800-44299600	Enhancers	HSMMtube	muscle
40	chr18:44298800-44300400	Enhancers	Brain Germinal Matrix	brain
41	chr18:44298800-44300400	Enhancers	Brain Substantia Nigra	brain
42	chr18:44298800-44300400	Enhancers	Left Ventricle	heart
43	chr18:44299000-44299200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr18:44299000-44299200	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr18:44299000-44299200	Flanking Active TSS	A549	lung
46	chr18:44299000-44299400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr18:44299000-44299400	Flanking Active TSS	HSMM	muscle
48	chr18:44299000-44299600	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr18:44299000-44299600	Enhancers	HUES64 Cell Line	embryonic stem cell

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