Variant report

Variant	rs8086288
Chromosome Location	chr18:7589956-7589957
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	chr18:7581543..7584440-chr18:7588046..7590216,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11872270	1.00[AMR][1000 genomes]
rs11873525	1.00[AMR][1000 genomes]
rs11876591	1.00[AMR][1000 genomes]
rs11877271	1.00[AMR][1000 genomes]
rs16952110	1.00[AMR][1000 genomes]
rs16952136	1.00[AMR][1000 genomes]
rs16952255	1.00[AMR][1000 genomes]
rs16952270	1.00[AMR][1000 genomes]
rs16952278	1.00[AMR][1000 genomes]
rs7226801	1.00[AMR][1000 genomes]
rs7227163	1.00[AMR][1000 genomes]
rs7227849	1.00[AMR][1000 genomes]
rs7238057	1.00[AMR][1000 genomes]
rs8087746	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491761	chr18:6973010-7595578	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	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
3	nsv532282	chr18:7115075-7608218	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7578400-7595000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr18:7579800-7596000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr18:7580200-7590200	Weak transcription	NHLF	lung
4	chr18:7580400-7591000	Weak transcription	HSMMtube	muscle
5	chr18:7580600-7600800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr18:7583000-7595000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr18:7585000-7600600	Weak transcription	Spleen	Spleen
8	chr18:7585200-7590800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr18:7585200-7591800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr18:7585200-7592200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr18:7585200-7592400	Weak transcription	Fetal Muscle Leg	muscle
12	chr18:7585400-7590400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr18:7585400-7600000	Weak transcription	A549	lung
14	chr18:7585600-7591600	Weak transcription	Fetal Stomach	stomach
15	chr18:7585800-7591200	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr18:7585800-7593200	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr18:7586000-7590600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr18:7586000-7590600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr18:7586000-7590600	Weak transcription	NHDF-Ad	bronchial
20	chr18:7586000-7591200	Weak transcription	Fetal Kidney	kidney
21	chr18:7586200-7591000	Weak transcription	NH-A	brain
22	chr18:7586400-7590400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr18:7586400-7591000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr18:7586400-7591000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr18:7586400-7592800	Weak transcription	Fetal Brain Male	brain
26	chr18:7586400-7596000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr18:7586400-7607600	Weak transcription	Aorta	Aorta
28	chr18:7586600-7590400	Weak transcription	Fetal Lung	lung
29	chr18:7586600-7591000	Weak transcription	Stomach Smooth Muscle	stomach
30	chr18:7586800-7590000	Weak transcription	Adipose Nuclei	Adipose
31	chr18:7586800-7591000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr18:7587400-7591000	Weak transcription	Colon Smooth Muscle	Colon
33	chr18:7588800-7590200	Enhancers	Psoas Muscle	Psoas
34	chr18:7588800-7590400	Enhancers	Left Ventricle	heart
35	chr18:7588800-7590600	Enhancers	Right Ventricle	heart
36	chr18:7588800-7593200	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr18:7589200-7590200	Enhancers	Pancreas	Pancrea
38	chr18:7589400-7590200	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr18:7589400-7591200	Weak transcription	Right Atrium	heart
40	chr18:7589400-7592400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr18:7589600-7592400	Weak transcription	Lung	lung
42	chr18:7589800-7594000	Enhancers	Fetal Heart	heart

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