Variant report

Variant	rs34727991
Chromosome Location	chr18:8340310-8340311
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs16953292	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35887101	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4511600	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs608392	0.96[EUR][1000 genomes]
rs673251	0.91[EUR][1000 genomes]
rs8093169	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs874536	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][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:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8294200-8341400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr18:8319800-8341600	Weak transcription	Adipose Nuclei	Adipose
3	chr18:8320800-8357200	Weak transcription	Thymus	Thymus
4	chr18:8321200-8341400	Weak transcription	Lung	lung
5	chr18:8325800-8341200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr18:8328000-8342600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr18:8329000-8341400	Weak transcription	Fetal Stomach	stomach
8	chr18:8329000-8341400	Weak transcription	Stomach Smooth Muscle	stomach
9	chr18:8329600-8340400	Weak transcription	HSMMtube	muscle
10	chr18:8329600-8358200	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr18:8329800-8365200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr18:8330400-8341600	Weak transcription	Fetal Muscle Leg	muscle
13	chr18:8330600-8341400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr18:8332000-8341400	Weak transcription	Fetal Intestine Small	intestine
15	chr18:8334400-8341800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr18:8334600-8341200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr18:8337000-8341400	Weak transcription	Small Intestine	intestine
18	chr18:8337800-8341600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr18:8338000-8340800	Weak transcription	Stomach Mucosa	stomach
20	chr18:8338800-8341400	Enhancers	HepG2	liver
21	chr18:8339000-8341200	Enhancers	A549	lung
22	chr18:8339400-8342000	Enhancers	Right Atrium	heart
23	chr18:8339400-8342200	Enhancers	Left Ventricle	heart
24	chr18:8339400-8342200	Enhancers	Right Ventricle	heart
25	chr18:8339400-8342600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr18:8339400-8344200	Enhancers	Fetal Heart	heart
27	chr18:8339600-8340400	Enhancers	Brain Cingulate Gyrus	brain
28	chr18:8339600-8340600	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr18:8339600-8342200	Enhancers	Pancreas	Pancrea
30	chr18:8339600-8344000	Enhancers	Fetal Lung	lung
31	chr18:8339800-8340400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr18:8339800-8341000	Enhancers	Brain Hippocampus Middle	brain
33	chr18:8339800-8341400	Weak transcription	Ovary	ovary
34	chr18:8339800-8341400	Weak transcription	NHLF	lung
35	chr18:8340000-8340400	Weak transcription	Aorta	Aorta
36	chr18:8340000-8340800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr18:8340200-8340800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr18:8340200-8341000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr18:8340200-8341400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr18:8340200-8341400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr18:8340200-8341400	Weak transcription	Gastric	stomach
42	chr18:8340200-8344200	Weak transcription	Brain Anterior Caudate	brain
43	chr18:8340200-8365600	Weak transcription	Psoas Muscle	Psoas

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links