Variant report

Variant	rs7227507
Chromosome Location	chr18:7768602-7768603
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10502360	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11663448	0.80[ASN][1000 genomes]
rs1446081	0.82[ASN][1000 genomes]
rs1446083	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs1940350	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2155524	0.84[CHB][hapmap];0.81[ASN][1000 genomes]
rs28583239	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7232348	1.00[CEU][hapmap]
rs7232461	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs7233842	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs7242450	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs867902	0.83[ASN][1000 genomes]
rs875530	0.83[ASN][1000 genomes]
rs9946476	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs9949027	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9953664	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs9963051	1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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:32 , 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	chr18:7756200-7772200	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr18:7761800-7789400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr18:7762000-7770200	Weak transcription	Colon Smooth Muscle	Colon
5	chr18:7762000-7772000	Weak transcription	Fetal Stomach	stomach
6	chr18:7762200-7773400	Weak transcription	Fetal Intestine Small	intestine
7	chr18:7762400-7782200	Weak transcription	Lung	lung
8	chr18:7762400-7783200	Weak transcription	Ovary	ovary
9	chr18:7762600-7788600	Weak transcription	HepG2	liver
10	chr18:7762800-7787400	Weak transcription	Right Atrium	heart
11	chr18:7763400-7770000	Weak transcription	Fetal Thymus	thymus
12	chr18:7765000-7778200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr18:7766400-7771600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr18:7766400-7771600	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr18:7766600-7771000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr18:7766600-7771000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr18:7766600-7771600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr18:7766800-7771600	Weak transcription	Psoas Muscle	Psoas
19	chr18:7766800-7771600	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr18:7766800-7772000	Weak transcription	Left Ventricle	heart
21	chr18:7766800-7772000	Weak transcription	Right Ventricle	heart
22	chr18:7766800-7811200	Weak transcription	Aorta	Aorta
23	chr18:7767200-7770600	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr18:7767200-7771200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr18:7767200-7774800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr18:7767200-7783200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr18:7767200-7812400	Weak transcription	Pancreas	Pancrea
28	chr18:7767400-7769800	Weak transcription	Fetal Heart	heart
29	chr18:7767600-7771800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr18:7767600-7778400	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr18:7768000-7769200	Enhancers	Thymus	Thymus
32	chr18:7768200-7771600	Weak transcription	A549	lung

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