Variant report

Variant	rs62483743
Chromosome Location	chr7:100747441-100747442
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:100743987..100745634-chr7:100746718..100749324,4	MCF-7	breast:
2	chr7:100743496..100745503-chr7:100745542..100749053,3	K562	blood:
3	chr7:100742030..100745253-chr7:100746544..100749068,3	MCF-7	breast:
4	chr7:100744230..100748590-chr7:100780366..100783718,4	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12535610	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12912	0.84[ASN][1000 genomes]
rs13229117	0.84[ASN][1000 genomes]
rs36093166	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4524722	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4621721	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4727478	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62483746	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6945281	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6948536	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6968929	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7801428	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1832517	chr7:100355490-100749246	Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	esv2758125	chr7:100355490-100749246	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
3	esv2759547	chr7:100355490-100749246	Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
4	esv1826021	chr7:100525848-100749246	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	esv1846644	chr7:100525848-100749246	Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
6	esv1822460	chr7:100606044-100749246	Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv427796	chr7:100606044-100749246	Strong transcription Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
8	nsv428181	chr7:100606044-100749246	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
9	nsv1031942	chr7:100606734-100788660	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
10	esv1833777	chr7:100632790-100800131	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
11	nsv1033081	chr7:100669629-100771824	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
12	nsv831075	chr7:100692297-100917018	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
13	nsv933653	chr7:100701931-101515782	Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
14	nsv1030604	chr7:100717732-101223465	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
15	nsv464649	chr7:100739682-100810983	Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
16	nsv607972	chr7:100739682-100810983	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
17	esv2422376	chr7:100743485-101016471	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100733600-100755400	Weak transcription	Aorta	Aorta
2	chr7:100741600-100748600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr7:100742400-100749200	Enhancers	Placenta	Placenta
4	chr7:100744000-100748200	Weak transcription	Gastric	stomach
5	chr7:100744000-100751000	Weak transcription	Esophagus	oesophagus
6	chr7:100744000-100751800	Weak transcription	Left Ventricle	heart
7	chr7:100744200-100747600	Weak transcription	Adipose Nuclei	Adipose
8	chr7:100744200-100747600	Weak transcription	Spleen	Spleen
9	chr7:100744200-100748400	Weak transcription	Right Atrium	heart
10	chr7:100744200-100751000	Weak transcription	Brain Hippocampus Middle	brain
11	chr7:100744400-100747600	Weak transcription	Right Ventricle	heart
12	chr7:100744400-100751200	Weak transcription	Psoas Muscle	Psoas
13	chr7:100744400-100751600	Weak transcription	Ovary	ovary
14	chr7:100744600-100750800	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr7:100745200-100751600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr7:100745400-100747600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr7:100745400-100748600	Enhancers	A549	lung
18	chr7:100745400-100751600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr7:100745600-100748600	Enhancers	Muscle Satellite Cultured Cells	--
20	chr7:100745600-100751000	Weak transcription	NH-A	brain
21	chr7:100745600-100751800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr7:100745600-100752200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr7:100746000-100748400	Enhancers	Stomach Mucosa	stomach
24	chr7:100746000-100748800	Enhancers	Liver	Liver
25	chr7:100746200-100748000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr7:100746200-100748600	Enhancers	K562	blood
27	chr7:100746400-100748400	Enhancers	HSMM	muscle
28	chr7:100746600-100747600	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr7:100746600-100747800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr7:100746600-100747800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr7:100746600-100747800	Flanking Active TSS	HepG2	liver
32	chr7:100746600-100748000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr7:100746600-100748400	Enhancers	HMEC	breast
34	chr7:100746600-100748600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr7:100746600-100748600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr7:100746600-100748600	Enhancers	NHDF-Ad	bronchial
37	chr7:100746600-100748600	Enhancers	NHEK	skin
38	chr7:100746800-100747600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr7:100746800-100747600	Enhancers	HSMMtube	muscle
40	chr7:100746800-100747600	Enhancers	NHLF	lung
41	chr7:100747000-100747600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr7:100747000-100748200	Weak transcription	Lung	lung
43	chr7:100747000-100748600	Enhancers	Hela-S3	cervix
44	chr7:100747000-100750800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr7:100747000-100752000	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr7:100747200-100747600	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr7:100747200-100747600	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr7:100747200-100748600	Enhancers	HUVEC	blood vessel
49	chr7:100747200-100751600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr7:100747400-100747600	Enhancers	Primary T killer memory cells from peripheral blood	blood

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