Variant report

Variant	rs2968349
Chromosome Location	chr7:120726926-120726927
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZMIZ1	chr7:120726745-120726970	K562	blood:	n/a	n/a
2	POLR2A	chr7:120723060-120727184	K562	blood:	n/a	n/a
3	CCNT2	chr7:120726655-120727341	K562	blood:	n/a	n/a
4	POLR2A	chr7:120717974-120727688	K562	blood:	n/a	n/a
5	POLR2A	chr7:120716166-120738240	K562	blood:	n/a	n/a
6	POLR2A	chr7:120726455-120727416	K562	blood:	n/a	n/a
7	POLR2A	chr7:120726568-120727163	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:120674115..120676104-chr7:120725405..120727477,2	K562	blood:
2	chr7:120624020..120645873-chr7:120713358..120727138,77	K562	blood:
3	chr7:120621518..120649031-chr7:120712706..120728931,108	K562	blood:
4	chr7:120724755..120727043-chr8:49082625..49084125,2	K562	blood:

No data

Variant related genes	Relation type
RNA5SP241	TF binding region
ENSG00000106034	Chromatin interaction
ENSG00000202225	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10085590	0.82[JPT][hapmap]
rs10235232	0.90[CHB][hapmap]
rs10246521	0.85[CHB][hapmap]
rs10251139	0.85[CHB][hapmap]
rs10259383	0.85[CHB][hapmap]
rs10261671	0.92[CHB][hapmap];0.83[CHD][hapmap];0.82[JPT][hapmap]
rs10275439	0.91[CHB][hapmap]
rs1112208	0.85[CHB][hapmap]
rs12673968	1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.95[ASN][1000 genomes]
rs12706314	0.84[CHB][hapmap]
rs12706318	0.90[CHB][hapmap]
rs13223036	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs13232048	0.91[CHB][hapmap];0.82[JPT][hapmap]
rs13245690	0.92[CHB][hapmap];1.00[JPT][hapmap]
rs1357756	0.82[JPT][hapmap]
rs1404268	0.83[CHB][hapmap];0.82[JPT][hapmap]
rs1524498	0.85[CHB][hapmap]
rs1524503	0.83[CHB][hapmap];0.82[JPT][hapmap]
rs1534015	0.82[JPT][hapmap]
rs1554634	0.82[JPT][hapmap]
rs1554635	0.80[ASN][1000 genomes]
rs1558541	0.85[CHB][hapmap]
rs1861000	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1861001	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1917112	0.85[CHB][hapmap]
rs1917113	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.95[ASN][1000 genomes]
rs1917118	0.82[JPT][hapmap]
rs2037632	0.85[CHB][hapmap]
rs2110281	1.00[CHB][hapmap];0.82[JPT][hapmap];0.97[ASN][1000 genomes]
rs2110282	0.95[ASN][1000 genomes]
rs2110283	0.98[ASN][1000 genomes]
rs2177578	0.85[CHB][hapmap]
rs2968345	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs6466767	1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs6466769	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs6947453	0.92[CHB][hapmap];0.82[JPT][hapmap]
rs6947494	0.82[JPT][hapmap]
rs6950680	0.92[CHB][hapmap];0.82[JPT][hapmap]
rs6952113	0.92[CHB][hapmap];0.82[JPT][hapmap]
rs6954757	1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.82[ASN][1000 genomes]
rs6956201	0.94[ASN][1000 genomes]
rs6961525	0.94[ASN][1000 genomes]
rs6970762	0.82[JPT][hapmap]
rs7786203	0.82[JPT][hapmap]
rs7787044	0.82[CHB][hapmap]
rs7797976	0.82[JPT][hapmap]
rs7798060	0.82[JPT][hapmap]
rs7799790	0.83[CHB][hapmap];0.82[JPT][hapmap]
rs7801723	0.92[CHB][hapmap];0.82[JPT][hapmap]
rs798933	1.00[CHB][hapmap];0.84[CHD][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs798934	0.95[ASN][1000 genomes]
rs798943	0.92[CHB][hapmap];0.82[JPT][hapmap]
rs798949	0.85[CHB][hapmap]
rs872007	0.92[CHB][hapmap];0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:15 , 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
15	nsv428506	chr7:120719434-120891759	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2968349	LMOD2	cis	parietal	SCAN

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:120711400-120790600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chr7:120722800-120727400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr7:120723200-120727000	Enhancers	Rectal Smooth Muscle	rectum
4	chr7:120724000-120731200	Genic enhancers	K562	blood
5	chr7:120724400-120727000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr7:120724400-120728200	Enhancers	Adipose Nuclei	Adipose
7	chr7:120724400-120739800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr7:120724600-120727000	Enhancers	Liver	Liver
9	chr7:120724600-120727000	Enhancers	Fetal Heart	heart
10	chr7:120724800-120727200	Enhancers	Ovary	ovary
11	chr7:120725400-120727000	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr7:120725400-120727000	Enhancers	HMEC	breast
13	chr7:120725400-120727000	Enhancers	NH-A	brain
14	chr7:120725400-120727000	Enhancers	NHEK	skin
15	chr7:120725400-120727600	Enhancers	Osteobl	bone
16	chr7:120725400-120728600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr7:120725400-120735000	Weak transcription	Right Ventricle	heart
18	chr7:120725400-120739600	Weak transcription	Left Ventricle	heart
19	chr7:120725600-120727400	Genic enhancers	HSMM	muscle
20	chr7:120725600-120736800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr7:120725800-120727400	Enhancers	HSMMtube	muscle
22	chr7:120725800-120727800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr7:120725800-120727800	Enhancers	NHLF	lung
24	chr7:120725800-120729200	Enhancers	NHDF-Ad	bronchial
25	chr7:120725800-120744400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr7:120725800-120761800	Weak transcription	Fetal Stomach	stomach
27	chr7:120726000-120727000	Enhancers	Colon Smooth Muscle	Colon
28	chr7:120726000-120727200	Enhancers	Aorta	Aorta
29	chr7:120726200-120727200	Enhancers	Stomach Smooth Muscle	stomach
30	chr7:120726200-120730200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr7:120726400-120727200	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr7:120726600-120727200	Enhancers	Psoas Muscle	Psoas
33	chr7:120726800-120727200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr7:120726800-120727600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr7:120726800-120728000	Enhancers	Muscle Satellite Cultured Cells	--

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