Variant report

Variant	rs7233631
Chromosome Location	chr18:7614809-7614810
allele	C/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: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs1893223	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]
rs1941135	0.81[MEX][hapmap]
rs1941136	0.83[EUR][1000 genomes]
rs1941137	1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.87[ASN][1000 genomes]
rs1941138	0.85[JPT][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1941141	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2032177	1.00[ASW][hapmap]
rs28558612	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4798571	0.85[JPT][hapmap];0.90[TSI][hapmap];0.88[EUR][1000 genomes]
rs4798573	0.85[JPT][hapmap];0.86[EUR][1000 genomes]
rs521887	0.86[JPT][hapmap]
rs523776	0.81[JPT][hapmap]
rs524833	0.85[JPT][hapmap];0.90[TSI][hapmap];0.85[EUR][1000 genomes]
rs565784	0.81[JPT][hapmap]
rs6506519	0.85[MEX][hapmap];0.82[AMR][1000 genomes]
rs6506520	1.00[ASW][hapmap]
rs7228736	1.00[ASW][hapmap]
rs8086999	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8098234	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9949194	0.94[CHB][hapmap];1.00[JPT][hapmap];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:35 , 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	chr18:7609800-7615400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr18:7609800-7615400	Weak transcription	Fetal Muscle Trunk	muscle
6	chr18:7609800-7615400	Weak transcription	Lung	lung
7	chr18:7609800-7615400	Weak transcription	Spleen	Spleen
8	chr18:7610000-7615200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr18:7610000-7615400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr18:7610000-7615400	Weak transcription	Adipose Nuclei	Adipose
11	chr18:7610000-7615400	Weak transcription	Rectal Smooth Muscle	rectum
12	chr18:7610000-7615400	Weak transcription	Right Atrium	heart
13	chr18:7610000-7615400	Weak transcription	Stomach Smooth Muscle	stomach
14	chr18:7610000-7616000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr18:7610000-7616000	Weak transcription	Ovary	ovary
16	chr18:7610000-7616400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr18:7610000-7616400	Weak transcription	NH-A	brain
18	chr18:7610000-7617600	Weak transcription	Aorta	Aorta
19	chr18:7611000-7615400	Weak transcription	NHDF-Ad	bronchial
20	chr18:7613200-7616400	Weak transcription	Psoas Muscle	Psoas
21	chr18:7613200-7617800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr18:7613600-7615400	Weak transcription	Left Ventricle	heart
23	chr18:7613600-7616400	Weak transcription	Gastric	stomach
24	chr18:7613800-7615000	Enhancers	HepG2	liver
25	chr18:7613800-7615400	Weak transcription	Fetal Muscle Leg	muscle
26	chr18:7613800-7615400	Weak transcription	Pancreas	Pancrea
27	chr18:7614000-7615000	Enhancers	A549	lung
28	chr18:7614000-7620400	Enhancers	Fetal Lung	lung
29	chr18:7614200-7615200	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr18:7614200-7617000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr18:7614600-7619600	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr18:7614800-7615200	Weak transcription	Fetal Heart	heart
33	chr18:7614800-7615400	Weak transcription	Right Ventricle	heart
34	chr18:7614800-7616200	Weak transcription	Colon Smooth Muscle	Colon
35	chr18:7614800-7617200	Weak transcription	Fetal Kidney	kidney

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