Variant report

Variant	rs16953244
Chromosome Location	chr18:8319720-8319721
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:8314355..8317057-chr18:8318115..8319777,2	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs11872468	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11875736	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16953299	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16953309	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16953319	0.83[EUR][1000 genomes]
rs16953329	0.83[EUR][1000 genomes]
rs16953340	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes]
rs16953349	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs2000643	1.00[CEU][hapmap]
rs2446498	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2509543	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35933807	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4798629	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57165119	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs57486401	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58102861	0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs592535	1.00[CEU][hapmap];0.88[JPT][hapmap]
rs59726215	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs598149	1.00[CEU][hapmap];0.88[JPT][hapmap]
rs606954	1.00[CEU][hapmap];0.88[JPT][hapmap]
rs613113	1.00[CEU][hapmap]
rs62085040	0.83[EUR][1000 genomes]
rs62085041	0.83[EUR][1000 genomes]
rs62085047	1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs62085048	0.82[EUR][1000 genomes]
rs62089873	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62089874	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62089877	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62089899	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs635416	1.00[CEU][hapmap]
rs652740	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs653652	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs656568	1.00[CEU][hapmap]
rs665525	1.00[CEU][hapmap];0.88[JPT][hapmap]
rs668262	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs669168	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs681383	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs694406	1.00[CEU][hapmap];0.88[JPT][hapmap]
rs8090276	0.88[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv458018	chr18:8110805-8645907	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv576426	chr18:8110805-8645907	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv1057288	chr18:8218725-8351340	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv543639	chr18:8218725-8351340	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv3351324	chr18:8250514-8405140	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv1058445	chr18:8270681-8421249	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8289200-8327400	Weak transcription	Fetal Stomach	stomach
2	chr18:8289200-8329400	Weak transcription	Fetal Muscle Leg	muscle
3	chr18:8294200-8341400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr18:8297000-8328200	Weak transcription	Brain Anterior Caudate	brain
5	chr18:8297200-8327400	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr18:8298200-8327000	Weak transcription	Ovary	ovary
7	chr18:8298400-8324800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr18:8298400-8329400	Weak transcription	Aorta	Aorta
9	chr18:8298600-8320200	Weak transcription	Thymus	Thymus
10	chr18:8298600-8327000	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr18:8299200-8328600	Weak transcription	HepG2	liver
12	chr18:8301800-8321000	Weak transcription	Fetal Lung	lung
13	chr18:8301800-8322600	Weak transcription	Pancreas	Pancrea
14	chr18:8302400-8320200	Weak transcription	Lung	lung
15	chr18:8302800-8327000	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr18:8307400-8320000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr18:8307400-8321800	Weak transcription	Fetal Muscle Trunk	muscle
18	chr18:8307400-8328400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr18:8307600-8327200	Weak transcription	Stomach Smooth Muscle	stomach
20	chr18:8308400-8319800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr18:8308400-8327400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr18:8312600-8319800	Weak transcription	NH-A	brain
23	chr18:8313000-8327200	Weak transcription	Spleen	Spleen
24	chr18:8313200-8321400	Weak transcription	Liver	Liver
25	chr18:8314000-8325200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr18:8314400-8320200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr18:8314400-8320800	Weak transcription	Gastric	stomach
28	chr18:8315000-8327400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr18:8315200-8326600	Weak transcription	Fetal Kidney	kidney
30	chr18:8315400-8319800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr18:8317000-8325000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr18:8317200-8327400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr18:8317400-8320000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr18:8318800-8321000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr18:8319200-8327400	Weak transcription	Colon Smooth Muscle	Colon
36	chr18:8319400-8319800	Strong transcription	Adipose Nuclei	Adipose
37	chr18:8319400-8320400	Enhancers	Right Ventricle	heart
38	chr18:8319400-8323000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr18:8319600-8320400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr18:8319600-8320400	Enhancers	A549	lung
41	chr18:8319600-8320400	Enhancers	NHDF-Ad	bronchial
42	chr18:8319600-8321000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr18:8319600-8321000	Genic enhancers	Left Ventricle	heart

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