Variant report

Variant	rs8098234
Chromosome Location	chr18:7616395-7616396
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:7611758..7613700-chr18:7613892..7616475,3	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1893223	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1941136	0.83[EUR][1000 genomes]
rs1941137	0.87[ASN][1000 genomes]
rs1941138	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1941141	0.93[ASN][1000 genomes]
rs28558612	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4798571	0.88[EUR][1000 genomes]
rs4798573	0.86[EUR][1000 genomes]
rs524833	0.85[EUR][1000 genomes]
rs6506519	0.82[AMR][1000 genomes]
rs7233631	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8086999	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9949194	0.91[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:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7608400-7617600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr18:7608800-7618600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr18:7609200-7617200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr18:7610000-7616400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr18:7610000-7616400	Weak transcription	NH-A	brain
6	chr18:7610000-7617600	Weak transcription	Aorta	Aorta
7	chr18:7613200-7616400	Weak transcription	Psoas Muscle	Psoas
8	chr18:7613200-7617800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr18:7613600-7616400	Weak transcription	Gastric	stomach
10	chr18:7614000-7620400	Enhancers	Fetal Lung	lung
11	chr18:7614200-7617000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr18:7614600-7619600	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr18:7614800-7617200	Weak transcription	Fetal Kidney	kidney
14	chr18:7615200-7617800	Enhancers	Fetal Heart	heart
15	chr18:7615200-7619400	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr18:7615400-7616400	Enhancers	Fetal Stomach	stomach
17	chr18:7615400-7617000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr18:7615400-7617000	Enhancers	Fetal Muscle Trunk	muscle
19	chr18:7615400-7617000	Enhancers	Fetal Muscle Leg	muscle
20	chr18:7615400-7617000	Enhancers	Lung	lung
21	chr18:7615400-7617000	Enhancers	Pancreas	Pancrea
22	chr18:7615400-7617000	Enhancers	Spleen	Spleen
23	chr18:7615400-7617200	Enhancers	Left Ventricle	heart
24	chr18:7615400-7617200	Enhancers	NHDF-Ad	bronchial
25	chr18:7615400-7617400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr18:7615400-7617600	Enhancers	Right Atrium	heart
27	chr18:7615400-7617600	Enhancers	Right Ventricle	heart
28	chr18:7615400-7617600	Enhancers	Stomach Smooth Muscle	stomach
29	chr18:7615400-7619400	Enhancers	Adipose Nuclei	Adipose
30	chr18:7615600-7616400	Weak transcription	Rectal Smooth Muscle	rectum
31	chr18:7615600-7616600	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr18:7616000-7617000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr18:7616000-7617000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr18:7616000-7617000	Enhancers	Ovary	ovary
35	chr18:7616000-7617200	Enhancers	A549	lung
36	chr18:7616000-7618200	Enhancers	HepG2	liver
37	chr18:7616200-7616800	Enhancers	Colon Smooth Muscle	Colon
38	chr18:7616200-7617200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr18:7616200-7617600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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