Variant report

Variant	rs2110280
Chromosome Location	chr7:120718419-120718420
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:120674087..120676521-chr7:120718031..120719674,2	K562	blood:
2	chr7:120615317..120617006-chr7:120717318..120719409,2	K562	blood:
3	chr7:120609328..120611534-chr7:120718016..120721159,3	K562	blood:
4	chr7:120609559..120611534-chr7:120718350..120721159,2	K562	blood:
5	chr7:120624020..120645873-chr7:120713358..120727138,77	K562	blood:
6	chr7:120611698..120613839-chr7:120717573..120721015,3	K562	blood:
7	chr7:120701560..120707048-chr7:120714809..120721907,9	K562	blood:
8	chr7:120685095..120691151-chr7:120712234..120720635,10	K562	blood:
9	chr7:120621518..120649031-chr7:120712706..120728931,108	K562	blood:
10	chr7:120677155..120680507-chr7:120717086..120719349,5	K562	blood:
11	chr7:120531641..120534094-chr7:120717673..120720325,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000202225	Chromatin interaction
ENSG00000106034	Chromatin interaction
ENSG00000234927	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10251692	0.82[CHB][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs10255706	0.86[CHB][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs10261386	0.82[CHB][hapmap];0.82[CHD][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs10271436	0.82[ASN][1000 genomes]
rs10275526	0.87[CHB][hapmap];0.85[CHD][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs10953924	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10953925	0.91[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.91[MEX][hapmap];0.96[MKK][hapmap];0.98[TSI][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11766764	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11977285	0.86[CHB][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs12176609	0.82[CHB][hapmap];0.80[CHD][hapmap];0.90[JPT][hapmap]
rs12666340	0.82[CHB][hapmap];0.85[CHD][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs12666345	0.86[CHB][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs12670604	0.81[ASN][1000 genomes]
rs12670664	0.82[ASN][1000 genomes]
rs12672958	0.86[CHB][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs12706311	0.83[ASN][1000 genomes]
rs13246689	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17143147	0.82[CHD][hapmap]
rs1917113	0.81[MKK][hapmap]
rs2192290	0.82[ASN][1000 genomes]
rs2192291	0.87[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]
rs2402555	0.86[CHB][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]
rs2896300	0.93[ASN][1000 genomes]
rs55748177	0.81[ASN][1000 genomes]
rs56351875	0.82[ASN][1000 genomes]
rs60050503	0.82[ASN][1000 genomes]
rs6466766	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6954757	0.81[MKK][hapmap]
rs6962509	0.86[CHB][hapmap];0.90[JPT][hapmap];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831114	chr7:120595624-120804510	Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv608327	chr7:120633006-120873078	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv2753621	chr7:120635049-120800049	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1023611	chr7:120638930-120881658	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1025430	chr7:120638930-121179289	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv1030792	chr7:120662815-120917533	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1031282	chr7:120667937-120887301	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv539099	chr7:120667937-120887301	Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv1019025	chr7:120667937-120918696	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv539100	chr7:120667937-120918696	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv534342	chr7:120667938-120887300	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	nsv889118	chr7:120683751-120800837	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
13	nsv889119	chr7:120688463-120800837	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
14	nsv889120	chr7:120691417-120800837	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2110280	LMOD2	cis	parietal	SCAN

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120682400-120719600	Weak transcription	Fetal Lung	lung
2	chr7:120692800-120719000	Weak transcription	Left Ventricle	heart
3	chr7:120708200-120725200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr7:120709600-120718600	Weak transcription	Stomach Smooth Muscle	stomach
5	chr7:120709600-120718800	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr7:120710000-120721200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr7:120710600-120718600	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr7:120711400-120790600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr7:120714200-120719400	Weak transcription	HepG2	liver
10	chr7:120715000-120719200	Weak transcription	Liver	Liver
11	chr7:120715600-120721400	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr7:120715800-120725000	Weak transcription	Fetal Stomach	stomach
13	chr7:120716600-120719200	Weak transcription	Aorta	Aorta
14	chr7:120716800-120719400	Weak transcription	Hela-S3	cervix
15	chr7:120716800-120721200	Weak transcription	Colon Smooth Muscle	Colon
16	chr7:120716800-120721400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr7:120716800-120723000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr7:120717000-120718600	Active TSS	HSMM	muscle
19	chr7:120717200-120718600	Weak transcription	Ovary	ovary
20	chr7:120717200-120718600	Weak transcription	HSMMtube	muscle
21	chr7:120717200-120718800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr7:120717200-120719200	Weak transcription	NH-A	brain
23	chr7:120717200-120719400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr7:120717200-120721200	Weak transcription	Osteobl	bone
25	chr7:120717200-120721800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr7:120717200-120722800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr7:120717400-120718800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr7:120717400-120719400	Weak transcription	Adipose Nuclei	Adipose
29	chr7:120717400-120721200	Weak transcription	HMEC	breast
30	chr7:120717400-120721200	Weak transcription	NHDF-Ad	bronchial
31	chr7:120717400-120721600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr7:120717600-120718600	Weak transcription	NHLF	lung
33	chr7:120717600-120718800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr7:120717600-120719000	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr7:120717600-120719200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr7:120717600-120721400	Weak transcription	NHEK	skin
37	chr7:120717600-120724200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr7:120718200-120718600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr7:120718200-120719800	Enhancers	Psoas Muscle	Psoas
40	chr7:120718200-120724000	Transcr. at gene 5' and 3'	K562	blood

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