Variant report

Variant	rs6954757
Chromosome Location	chr7:120743182-120743183
allele	A/G
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:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr7:120742925..120745417-chr7:121034173..121036803,3	K562	blood:
2	chr7:120742066..120745673-chr7:120758680..120764316,5	K562	blood:
3	chr7:120743098..120745031-chr7:120746646..120748514,3	K562	blood:
4	chr7:120741938..120744145-chr7:120762816..120764575,2	K562	blood:
5	chr7:120742066..120743891-chr7:120758680..120761342,2	K562	blood:
6	chr7:120735763..120738966-chr7:120742400..120745937,3	K562	blood:
7	chr7:120736479..120739918-chr7:120741792..120745937,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000196937	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs1005400	0.81[MEX][hapmap]
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];0.82[CHD][hapmap];0.82[JPT][hapmap]
rs10275439	0.91[CHB][hapmap]
rs1112208	0.85[CHB][hapmap]
rs11766324	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12673770	0.86[ASN][1000 genomes]
rs12673968	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12706313	0.86[ASN][1000 genomes]
rs12706314	0.84[CHB][hapmap]
rs12706318	0.90[CHB][hapmap]
rs1296405	0.86[ASN][1000 genomes]
rs13223036	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13232048	0.91[CHB][hapmap];0.82[JPT][hapmap]
rs13245677	0.86[ASN][1000 genomes]
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	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1558541	0.85[CHB][hapmap]
rs1861000	0.82[ASN][1000 genomes]
rs1861001	1.00[CHB][hapmap];0.89[CHD][hapmap];0.82[JPT][hapmap];0.85[MEX][hapmap];0.82[ASN][1000 genomes]
rs1917112	0.85[CHB][hapmap]
rs1917113	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1917118	0.82[JPT][hapmap]
rs2037632	0.85[CHB][hapmap]
rs2110280	0.81[MKK][hapmap]
rs2110281	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2110282	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2110283	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2177578	0.85[CHB][hapmap]
rs2968338	0.86[ASN][1000 genomes]
rs2968345	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2968349	1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.82[ASN][1000 genomes]
rs6466767	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6466769	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[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]
rs6956201	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6961525	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[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[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs798934	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs798943	0.92[CHB][hapmap];0.82[JPT][hapmap];0.86[ASN][1000 genomes]
rs798946	0.86[ASN][1000 genomes]
rs798949	0.85[CHB][hapmap]
rs872007	0.92[CHB][hapmap];0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:16 , 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
16	nsv523626	chr7:120738269-120763212	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6954757	LMOD2	cis	parietal	SCAN
rs6954757	FLJ21986	cis	multi-tissue	Pritchard

Chromatin state (count:50 , 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	chr7:120725800-120744400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr7:120725800-120761800	Weak transcription	Fetal Stomach	stomach
4	chr7:120727800-120756400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr7:120731200-120747800	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr7:120733000-120747800	Weak transcription	Spleen	Spleen
7	chr7:120735400-120784000	Weak transcription	Right Ventricle	heart
8	chr7:120737400-120747400	Strong transcription	Liver	Liver
9	chr7:120738000-120745000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr7:120738200-120749200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr7:120738800-120743600	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr7:120739600-120746400	Strong transcription	HSMM	muscle
13	chr7:120739800-120743800	Strong transcription	Adipose Nuclei	Adipose
14	chr7:120740400-120753000	Weak transcription	Osteobl	bone
15	chr7:120740600-120758800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr7:120740800-120745000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr7:120740800-120786000	Weak transcription	Fetal Lung	lung
18	chr7:120741000-120743800	Strong transcription	HSMMtube	muscle
19	chr7:120741400-120743600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr7:120741400-120743800	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr7:120741400-120746400	Strong transcription	NHLF	lung
22	chr7:120741400-120782200	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr7:120741600-120743600	Enhancers	HMEC	breast
24	chr7:120741800-120743400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr7:120741800-120743400	Genic enhancers	K562	blood
26	chr7:120741800-120743800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr7:120741800-120743800	Enhancers	NHEK	skin
28	chr7:120741800-120765600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr7:120742000-120743800	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr7:120742000-120745000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr7:120742000-120810000	Weak transcription	Psoas Muscle	Psoas
32	chr7:120742200-120743600	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr7:120742200-120743600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr7:120742200-120743800	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr7:120742400-120743600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr7:120742400-120743800	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr7:120742400-120744000	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr7:120742400-120748200	Weak transcription	Colon Smooth Muscle	Colon
39	chr7:120742600-120743200	Enhancers	Placenta Amnion	Placenta Amnion
40	chr7:120742600-120744600	Enhancers	Fetal Heart	heart
41	chr7:120742800-120743600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr7:120742800-120752000	Weak transcription	Aorta	Aorta
43	chr7:120742800-120765000	Weak transcription	NHDF-Ad	bronchial
44	chr7:120742800-120771800	Weak transcription	Stomach Smooth Muscle	stomach
45	chr7:120743000-120743600	Enhancers	iPS-18 Cell Line	embryonic stem cell
46	chr7:120743000-120743800	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr7:120743000-120748000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr7:120743000-120750600	Weak transcription	Ovary	ovary
49	chr7:120743000-120765400	Weak transcription	Left Ventricle	heart
50	chr7:120743000-120784200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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