Variant report

Variant	rs62465094
Chromosome Location	chr7:101181493-101181494
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:100963607..100965766-chr7:101180283..101182064,2	MCF-7	breast:
2	chr7:101180632..101182943-chr7:101190330..101192385,2	K562	blood:
3	chr7:101175649..101178492-chr7:101181142..101183684,2	K562	blood:
4	chr7:101169835..101171791-chr7:101181175..101183653,2	K562	blood:
5	chr7:101180819..101183301-chr7:101459695..101461355,2	MCF-7	breast:
6	chr7:100952576..100954164-chr7:101180283..101182440,2	K562	blood:
7	chr7:101175649..101178492-chr7:101180631..101183684,3	K562	blood:

Variant related genes	Relation type
ENSG00000128581	Chromatin interaction
ENSG00000257923	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10252827	0.80[EUR][1000 genomes]
rs12539587	0.88[AFR][1000 genomes]
rs13233931	0.83[ASN][1000 genomes]
rs13239622	0.83[ASN][1000 genomes]
rs1476655	0.85[AFR][1000 genomes]
rs1543884	0.83[ASN][1000 genomes]
rs1543885	0.83[ASN][1000 genomes]
rs1859628	0.83[ASN][1000 genomes]
rs28674048	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35916425	0.83[ASN][1000 genomes]
rs55739523	0.88[EUR][1000 genomes]
rs6973617	0.83[ASN][1000 genomes]
rs6975214	0.83[ASN][1000 genomes]
rs6975738	0.83[ASN][1000 genomes]
rs7809428	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv888821	chr7:101091470-101311540	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv831078	chr7:101094945-101257486	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv888822	chr7:101105017-101330734	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv888824	chr7:101109073-101330734	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	esv1796652	chr7:101156017-101219459	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv888825	chr7:101168283-101330734	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101159600-101188200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr7:101160400-101186000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr7:101160600-101190400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr7:101161800-101186000	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr7:101167200-101184200	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr7:101170000-101183800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:101171800-101187800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr7:101176400-101190800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr7:101178000-101182200	Enhancers	Liver	Liver
10	chr7:101178200-101182600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
11	chr7:101178200-101182600	Enhancers	Fetal Muscle Leg	muscle
12	chr7:101178400-101181800	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr7:101178400-101185800	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr7:101178600-101183000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr7:101179000-101182000	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr7:101179000-101182000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr7:101179000-101182400	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr7:101179000-101182600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr7:101179000-101186000	Weak transcription	Right Ventricle	heart
20	chr7:101179000-101188400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:101179200-101195000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr7:101179800-101181800	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr7:101179800-101182200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr7:101179800-101182200	Enhancers	NHLF	lung
25	chr7:101180200-101182200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr7:101180400-101182000	Weak transcription	Adipose Nuclei	Adipose
27	chr7:101180600-101182600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr7:101180800-101182200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr7:101180800-101182400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr7:101181000-101181600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr7:101181000-101182200	Enhancers	Fetal Stomach	stomach
32	chr7:101181000-101182400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr7:101181000-101183000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr7:101181000-101183000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr7:101181200-101182600	Bivalent Enhancer	Stomach Smooth Muscle	stomach
36	chr7:101181200-101182600	Enhancers	HepG2	liver
37	chr7:101181200-101186000	Weak transcription	A549	lung
38	chr7:101181400-101181600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr7:101181400-101181800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr7:101181400-101181800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr7:101181400-101181800	Weak transcription	Hela-S3	cervix
42	chr7:101181400-101182200	Enhancers	Placenta	Placenta
43	chr7:101181400-101182600	Enhancers	Fetal Lung	lung
44	chr7:101181400-101194000	Weak transcription	Spleen	Spleen

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