Variant report

Variant	rs72942750
Chromosome Location	chr18:8986984-8986985
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NDUFV2-3	chr18:8986488-8988280	l_1519_chr18:8964492-8969328_colon

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11081451	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11081452	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12455630	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12456390	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17496003	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2036737	0.83[ASN][1000 genomes]
rs4798737	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064883	chr18:8709670-9133224	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv870110	chr18:8958418-9075363	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:8981200-8987000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr18:8981400-8988000	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr18:8983000-8987000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr18:8983200-8987000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr18:8983200-8987000	Weak transcription	HSMM	muscle
6	chr18:8983200-8987000	Weak transcription	NH-A	brain
7	chr18:8983200-8988000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr18:8983200-8988800	Enhancers	Colon Smooth Muscle	Colon
9	chr18:8983400-8987000	Weak transcription	HSMMtube	muscle
10	chr18:8983400-8987200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr18:8983400-8987800	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr18:8983600-8987000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr18:8983600-8987200	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr18:8983600-8987400	Weak transcription	Stomach Smooth Muscle	stomach
15	chr18:8983800-8987400	Weak transcription	Fetal Stomach	stomach
16	chr18:8984200-8987200	Weak transcription	Fetal Thymus	thymus
17	chr18:8985800-8987800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr18:8986000-8988200	Enhancers	Rectal Smooth Muscle	rectum
19	chr18:8986200-8991200	Enhancers	K562	blood
20	chr18:8986400-8987800	Enhancers	Pancreas	Pancrea
21	chr18:8986800-8987000	Enhancers	Esophagus	oesophagus
22	chr18:8986800-8988200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr18:8986800-8988200	Enhancers	Osteobl	bone
24	chr18:8986800-8988400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr18:8986800-8988400	Enhancers	Aorta	Aorta
26	chr18:8986800-8988400	Enhancers	NHDF-Ad	bronchial
27	chr18:8986800-8988400	Enhancers	NHEK	skin
28	chr18:8986800-8988600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr18:8986800-8988600	Enhancers	A549	lung
30	chr18:8986800-8989000	Enhancers	HMEC	breast
31	chr18:8986800-8992600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links