Variant report

Variant	rs12535610
Chromosome Location	chr7:100749457-100749458
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:100749240..100751319-chr7:100753473..100755309,2	K562	blood:
2	chr7:100748557..100751885-chr7:100761807..100763776,3	MCF-7	breast:
3	chr7:100494214..100497155-chr7:100747765..100751191,3	K562	blood:
4	chr7:100749234..100751319-chr7:100752722..100755802,5	K562	blood:
5	chr7:100748249..100751163-chr7:100779870..100782174,3	K562	blood:
6	chr7:100747760..100750554-chr7:100750656..100752898,2	K562	blood:

Variant related genes	Relation type
ENSG00000087085	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs12536798	0.91[AFR][1000 genomes]
rs34772825	0.81[AFR][1000 genomes]
rs35799997	0.81[AFR][1000 genomes]
rs36093166	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4292618	0.84[AMR][1000 genomes]
rs4524722	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4621721	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4727478	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4727479	0.95[AFR][1000 genomes]
rs4729659	0.95[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs4729661	0.81[AFR][1000 genomes]
rs4729663	0.95[AFR][1000 genomes]
rs62483743	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62483746	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62483748	0.95[AFR][1000 genomes]
rs6465783	0.81[AMR][1000 genomes]
rs6465785	0.84[AMR][1000 genomes]
rs6945281	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6948536	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6950982	0.95[AFR][1000 genomes]
rs6956010	0.95[AFR][1000 genomes]
rs6968929	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs757722	0.95[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs7790022	0.95[AFR][1000 genomes]
rs7801428	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100733600-100755400	Weak transcription	Aorta	Aorta
2	chr7:100744000-100751000	Weak transcription	Esophagus	oesophagus
3	chr7:100744000-100751800	Weak transcription	Left Ventricle	heart
4	chr7:100744200-100751000	Weak transcription	Brain Hippocampus Middle	brain
5	chr7:100744400-100751200	Weak transcription	Psoas Muscle	Psoas
6	chr7:100744400-100751600	Weak transcription	Ovary	ovary
7	chr7:100744600-100750800	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr7:100745200-100751600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr7:100745400-100751600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr7:100745600-100751000	Weak transcription	NH-A	brain
11	chr7:100745600-100751800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr7:100745600-100752200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr7:100747000-100750800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr7:100747000-100752000	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr7:100747200-100751600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr7:100747600-100751600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr7:100747600-100751600	Weak transcription	HSMMtube	muscle
18	chr7:100747600-100755400	Weak transcription	NHLF	lung
19	chr7:100747600-100760400	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr7:100747800-100751000	Enhancers	HepG2	liver
21	chr7:100747800-100751200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr7:100747800-100751600	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr7:100747800-100752200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr7:100747800-100760600	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr7:100748000-100750000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr7:100748400-100750400	Weak transcription	Spleen	Spleen
27	chr7:100748400-100751000	Weak transcription	Fetal Muscle Trunk	muscle
28	chr7:100748400-100751000	Weak transcription	HSMM	muscle
29	chr7:100748400-100751600	Weak transcription	HMEC	breast
30	chr7:100748600-100749600	Weak transcription	K562	blood
31	chr7:100748600-100749800	Weak transcription	Hela-S3	cervix
32	chr7:100748600-100750800	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr7:100748600-100750800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr7:100748600-100750800	Weak transcription	Adipose Nuclei	Adipose
35	chr7:100748600-100750800	Weak transcription	HUVEC	blood vessel
36	chr7:100748600-100750800	Weak transcription	NHDF-Ad	bronchial
37	chr7:100748600-100751000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr7:100748600-100751000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr7:100748600-100751000	Weak transcription	Right Ventricle	heart
40	chr7:100748600-100751000	Weak transcription	A549	lung
41	chr7:100748600-100751600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr7:100748600-100751600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr7:100748600-100751600	Weak transcription	NHEK	skin
44	chr7:100748600-100751800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr7:100748600-100751800	Weak transcription	Lung	lung
46	chr7:100748600-100751800	Weak transcription	Osteobl	bone
47	chr7:100748600-100752200	Weak transcription	Right Atrium	heart
48	chr7:100748800-100750800	Weak transcription	GM12878-XiMat	blood
49	chr7:100748800-100751000	Weak transcription	Liver	Liver
50	chr7:100749200-100749600	Weak transcription	Placenta	Placenta

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