Variant report

Variant	rs57940516
Chromosome Location	chr7:101193639-101193640
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:101192553..101195196-chr7:101198259..101201096,3	K562	blood:
2	chr7:101187418..101190438-chr7:101192347..101194842,3	K562	blood:
3	chr7:101191083..101193810-chr7:101458010..101459674,2	MCF-7	breast:
4	chr7:101192925..101195535-chr7:101198151..101199759,2	K562	blood:

Variant related genes	Relation type
ENSG00000257923	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10252827	0.95[ASN][1000 genomes]
rs28674048	0.90[ASN][1000 genomes]
rs55739523	0.95[ASN][1000 genomes]
rs55744858	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57220607	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62465110	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62465113	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6945334	0.83[ASN][1000 genomes]
rs6974379	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7806914	0.95[ASN][1000 genomes]
rs7809428	0.95[ASN][1000 genomes]
rs9655771	0.83[ASN][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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101179200-101195000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr7:101181400-101194000	Weak transcription	Spleen	Spleen
3	chr7:101181600-101194000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr7:101182600-101194000	Weak transcription	HepG2	liver
5	chr7:101183000-101194000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr7:101186200-101199200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr7:101186200-101207600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr7:101186600-101206800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr7:101186800-101196400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr7:101187200-101197400	Weak transcription	Brain Angular Gyrus	brain
11	chr7:101188000-101197200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr7:101189200-101207600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr7:101191400-101207000	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr7:101191400-101207600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr7:101191600-101194000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:101191600-101197200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr7:101191600-101207200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr7:101191800-101194200	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr7:101191800-101206200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr7:101191800-101207000	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr7:101192000-101193800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:101192800-101194200	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr7:101193400-101195200	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr7:101193600-101207600	Weak transcription	Fetal Kidney	kidney

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links