Variant report

Variant	rs72916886
Chromosome Location	chr18:8321304-8321305
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	chr17:25398472..25400582-chr18:8320644..8322845,3	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs3786384	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56213908	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs641631	0.81[ASN][1000 genomes]

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:41 , 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	chr18:8298600-8327000	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr18:8299200-8328600	Weak transcription	HepG2	liver
11	chr18:8301800-8322600	Weak transcription	Pancreas	Pancrea
12	chr18:8302800-8327000	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr18:8307400-8321800	Weak transcription	Fetal Muscle Trunk	muscle
14	chr18:8307400-8328400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr18:8307600-8327200	Weak transcription	Stomach Smooth Muscle	stomach
16	chr18:8308400-8327400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr18:8313000-8327200	Weak transcription	Spleen	Spleen
18	chr18:8313200-8321400	Weak transcription	Liver	Liver
19	chr18:8314000-8325200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr18:8315000-8327400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr18:8315200-8326600	Weak transcription	Fetal Kidney	kidney
22	chr18:8317000-8325000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr18:8317200-8327400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr18:8319200-8327400	Weak transcription	Colon Smooth Muscle	Colon
25	chr18:8319400-8323000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr18:8319800-8323600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr18:8319800-8341600	Weak transcription	Adipose Nuclei	Adipose
28	chr18:8320400-8322600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr18:8320400-8327200	Weak transcription	NHLF	lung
30	chr18:8320400-8327400	Weak transcription	A549	lung
31	chr18:8320400-8328600	Weak transcription	NHDF-Ad	bronchial
32	chr18:8320400-8339400	Weak transcription	Right Ventricle	heart
33	chr18:8320800-8324800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr18:8320800-8328800	Weak transcription	NH-A	brain
35	chr18:8320800-8357200	Weak transcription	Thymus	Thymus
36	chr18:8321000-8321600	Weak transcription	Gastric	stomach
37	chr18:8321000-8324800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr18:8321000-8327200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr18:8321000-8327200	Weak transcription	Left Ventricle	heart
40	chr18:8321000-8333800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr18:8321200-8341400	Weak transcription	Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links