Variant report

Variant	rs9954967
Chromosome Location	chr18:8986673-8986674
allele	A/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: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11663875	0.91[ASN][1000 genomes]
rs12605735	0.91[ASN][1000 genomes]
rs12605754	0.91[ASN][1000 genomes]
rs12607230	0.91[ASN][1000 genomes]
rs12953380	0.81[EUR][1000 genomes]
rs12954021	0.83[EUR][1000 genomes]
rs12966593	0.84[EUR][1000 genomes]
rs1893146	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2032165	0.98[ASN][1000 genomes]
rs28449557	0.94[ASN][1000 genomes]
rs28667793	0.91[ASN][1000 genomes]
rs35932057	0.90[EUR][1000 genomes]
rs4798746	0.98[ASN][1000 genomes]
rs60539038	0.91[ASN][1000 genomes]
rs62087094	0.91[ASN][1000 genomes]
rs66469248	0.91[ASN][1000 genomes]
rs66781209	0.91[ASN][1000 genomes]
rs67217398	0.91[ASN][1000 genomes]
rs67743220	0.91[ASN][1000 genomes]
rs7236251	0.92[ASN][1000 genomes]
rs72942761	0.91[ASN][1000 genomes]
rs9947345	0.91[ASN][1000 genomes]
rs9956612	0.89[ASN][1000 genomes]
rs9967281	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:29 , 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	chr18:8983200-8986800	Weak transcription	A549	lung
5	chr18:8983200-8987000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr18:8983200-8987000	Weak transcription	HSMM	muscle
7	chr18:8983200-8987000	Weak transcription	NH-A	brain
8	chr18:8983200-8988000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr18:8983200-8988800	Enhancers	Colon Smooth Muscle	Colon
10	chr18:8983400-8986800	Weak transcription	Osteobl	bone
11	chr18:8983400-8987000	Weak transcription	HSMMtube	muscle
12	chr18:8983400-8987200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr18:8983400-8987800	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr18:8983600-8987000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr18:8983600-8987200	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr18:8983600-8987400	Weak transcription	Stomach Smooth Muscle	stomach
17	chr18:8983800-8987400	Weak transcription	Fetal Stomach	stomach
18	chr18:8984200-8987200	Weak transcription	Fetal Thymus	thymus
19	chr18:8984400-8986800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr18:8984600-8986800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr18:8984600-8986800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr18:8984600-8986800	Weak transcription	HMEC	breast
23	chr18:8984600-8986800	Weak transcription	NHDF-Ad	bronchial
24	chr18:8984600-8986800	Weak transcription	NHEK	skin
25	chr18:8984800-8986800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr18:8985800-8987800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr18:8986000-8988200	Enhancers	Rectal Smooth Muscle	rectum
28	chr18:8986200-8991200	Enhancers	K562	blood
29	chr18:8986400-8987800	Enhancers	Pancreas	Pancrea

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