Variant report

Variant	rs1893223
Chromosome Location	chr18:7609137-7609138
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1941136	0.86[TSI][hapmap];0.90[EUR][1000 genomes]
rs1941137	1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1941138	0.81[CEU][hapmap];0.85[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1941141	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2032177	0.83[ASW][hapmap]
rs28399859	0.85[EUR][1000 genomes]
rs28558612	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4798571	0.81[CEU][hapmap];0.85[JPT][hapmap];0.90[MEX][hapmap];0.97[TSI][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4798573	0.81[CEU][hapmap];0.85[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs521887	0.86[JPT][hapmap]
rs523776	0.81[JPT][hapmap]
rs524833	0.81[CEU][hapmap];0.85[JPT][hapmap];0.85[MEX][hapmap];0.97[TSI][hapmap];0.92[EUR][1000 genomes]
rs565784	0.81[JPT][hapmap]
rs6506520	0.83[ASW][hapmap]
rs7228736	0.83[ASW][hapmap]
rs7233631	0.83[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.93[TSI][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8086999	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8098234	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9949194	0.85[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2656232	chr18:7111033-7658679	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv1063350	chr18:7215275-7659999	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7603200-7609400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr18:7603400-7610000	Enhancers	Fetal Muscle Leg	muscle
3	chr18:7605400-7610000	Enhancers	Left Ventricle	heart
4	chr18:7605400-7610200	Enhancers	Psoas Muscle	Psoas
5	chr18:7605800-7610000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr18:7606400-7612800	Weak transcription	Gastric	stomach
7	chr18:7606800-7609200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr18:7607000-7610400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr18:7607200-7610000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr18:7607400-7609200	Enhancers	A549	lung
11	chr18:7607400-7609200	Enhancers	HMEC	breast
12	chr18:7607400-7609800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr18:7607400-7609800	Enhancers	Lung	lung
14	chr18:7607400-7610000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr18:7607400-7610000	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr18:7607400-7610200	Enhancers	HSMM	muscle
17	chr18:7607600-7609600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr18:7607600-7610000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr18:7607600-7610000	Enhancers	Aorta	Aorta
20	chr18:7607600-7610000	Enhancers	Rectal Smooth Muscle	rectum
21	chr18:7607600-7610000	Enhancers	Right Atrium	heart
22	chr18:7607600-7610200	Enhancers	NHLF	lung
23	chr18:7607800-7609200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr18:7607800-7609400	Flanking Active TSS	Fetal Heart	heart
25	chr18:7607800-7609800	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr18:7607800-7609800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
27	chr18:7607800-7609800	Enhancers	Spleen	Spleen
28	chr18:7607800-7610000	Enhancers	Adipose Nuclei	Adipose
29	chr18:7607800-7610000	Enhancers	Colon Smooth Muscle	Colon
30	chr18:7607800-7610000	Enhancers	Right Ventricle	heart
31	chr18:7608000-7611000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr18:7608200-7609200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr18:7608200-7614200	Weak transcription	Fetal Kidney	kidney
34	chr18:7608400-7609400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr18:7608400-7609400	Flanking Active TSS	NHDF-Ad	bronchial
36	chr18:7608400-7617600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr18:7608600-7609200	Enhancers	NH-A	brain
38	chr18:7608600-7609600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr18:7608600-7609800	Enhancers	Fetal Muscle Trunk	muscle
40	chr18:7608600-7609800	Enhancers	Pancreas	Pancrea
41	chr18:7608600-7610000	Enhancers	Ovary	ovary
42	chr18:7608800-7609200	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr18:7608800-7609400	Flanking Active TSS	Stomach Smooth Muscle	stomach
44	chr18:7608800-7609400	Enhancers	HUVEC	blood vessel
45	chr18:7608800-7610200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr18:7608800-7614000	Weak transcription	Fetal Lung	lung
47	chr18:7608800-7618600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr18:7609000-7609200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
49	chr18:7609000-7609200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr18:7609000-7610000	Enhancers	HSMMtube	muscle

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