Variant report

Variant	rs73393543
Chromosome Location	chr18:7761320-7761321
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs16952548	1.00[EUR][1000 genomes]
rs16952554	1.00[EUR][1000 genomes]
rs16952556	1.00[EUR][1000 genomes]
rs8083032	1.00[EUR][1000 genomes]
rs8091188	1.00[EUR][1000 genomes]
rs8095831	1.00[EUR][1000 genomes]
rs894073	1.00[EUR][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	nsv1064597	chr18:7169490-7762738	Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv543636	chr18:7169490-7762738	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv534374	chr18:7438812-8412546	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv458016	chr18:7488133-7934001	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv576399	chr18:7488133-7934001	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	esv2762810	chr18:7492090-7924728	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1062911	chr18:7561991-8088274	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv543637	chr18:7561991-8088274	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv1064345	chr18:7562051-8088274	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv543638	chr18:7562051-8088274	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv1061538	chr18:7730116-7762149	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv1067394	chr18:7730116-7768536	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv431970	chr18:7732188-7770950	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Strong transcription	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv576422	chr18:7732917-7763363	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	nsv576423	chr18:7732917-7788329	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
16	nsv576425	chr18:7747873-7859757	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7748600-7784000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr18:7750800-7764600	Weak transcription	Fetal Muscle Leg	muscle
3	chr18:7751200-7761600	Weak transcription	Aorta	Aorta
4	chr18:7754800-7766400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr18:7755000-7765800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr18:7755600-7766400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr18:7756200-7772200	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr18:7757800-7764600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr18:7758800-7762000	Enhancers	Colon Smooth Muscle	Colon
10	chr18:7759200-7762000	Weak transcription	Thymus	Thymus
11	chr18:7759200-7762200	Weak transcription	Fetal Thymus	thymus
12	chr18:7759800-7762200	Enhancers	Fetal Intestine Large	intestine
13	chr18:7759800-7762200	Enhancers	Fetal Intestine Small	intestine
14	chr18:7759800-7763200	Enhancers	Psoas Muscle	Psoas
15	chr18:7760000-7762600	Enhancers	HepG2	liver
16	chr18:7760400-7761600	Enhancers	Osteobl	bone
17	chr18:7760400-7762400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr18:7760400-7762400	Enhancers	Gastric	stomach
19	chr18:7760400-7762400	Enhancers	Left Ventricle	heart
20	chr18:7760400-7763000	Enhancers	Right Ventricle	heart
21	chr18:7760600-7762200	Enhancers	HUVEC	blood vessel
22	chr18:7760600-7762400	Enhancers	Ovary	ovary
23	chr18:7760800-7761400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr18:7760800-7761800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr18:7760800-7761800	Enhancers	Fetal Lung	lung
26	chr18:7760800-7762000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr18:7760800-7762000	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr18:7760800-7762000	Enhancers	Fetal Stomach	stomach
29	chr18:7760800-7762200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr18:7760800-7763000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr18:7760800-7763800	Enhancers	Fetal Heart	heart
32	chr18:7761000-7761400	Weak transcription	Lung	lung
33	chr18:7761000-7761400	Weak transcription	Pancreas	Pancrea
34	chr18:7761000-7761400	Weak transcription	Right Atrium	heart
35	chr18:7761000-7761400	Enhancers	NH-A	brain
36	chr18:7761000-7762000	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr18:7761000-7762000	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr18:7761000-7765400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr18:7761200-7761600	Active TSS	A549	lung
40	chr18:7761200-7763400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr18:7761200-7764200	Weak transcription	Fetal Kidney	kidney

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