Variant report

Variant	rs56122969
Chromosome Location	chr7:129407923-129407924
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:129407354..129409161-chr7:129465148..129466728,2	K562	blood:
2	chr7:129403367..129409123-chr7:129416069..129420416,9	MCF-7	breast:
3	chr7:129405931..129408629-chr7:129412296..129413845,2	MCF-7	breast:
4	chr7:129402799..129404930-chr7:129406084..129408707,2	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs55817702	0.83[AMR][1000 genomes]
rs55846850	0.83[AMR][1000 genomes]
rs55951852	0.83[AMR][1000 genomes]
rs56069073	0.83[AMR][1000 genomes]
rs56102526	0.83[AMR][1000 genomes]
rs56225229	0.83[AMR][1000 genomes]
rs56322631	0.83[AMR][1000 genomes]
rs56368013	0.83[AMR][1000 genomes]
rs56390630	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1813824	chr7:129379450-129424461	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	364 gene(s)	inside rSNPs	diseases
2	esv14232	chr7:129379923-129445465	Flanking Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	365 gene(s)	inside rSNPs	diseases
3	nsv516024	chr7:129387380-129444951	Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	365 gene(s)	inside rSNPs	diseases
4	esv1817678	chr7:129394447-129424461	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	364 gene(s)	inside rSNPs	diseases
5	nsv464721	chr7:129397644-129444951	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	365 gene(s)	inside rSNPs	diseases
6	nsv608420	chr7:129397644-129444951	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	365 gene(s)	inside rSNPs	diseases
7	esv1808977	chr7:129402158-129424461	Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	364 gene(s)	inside rSNPs	diseases
8	esv1828133	chr7:129403541-129437113	Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	365 gene(s)	inside rSNPs	diseases
9	esv1843969	chr7:129403541-129446598	Bivalent Enhancer Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	365 gene(s)	inside rSNPs	diseases
10	esv1802311	chr7:129406936-129442389	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	365 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129381800-129415600	Weak transcription	Pancreas	Pancrea
2	chr7:129382400-129408600	Weak transcription	Right Atrium	heart
3	chr7:129382400-129408800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:129382800-129411400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:129396000-129413600	Weak transcription	A549	lung
6	chr7:129396400-129408800	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr7:129396400-129408800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr7:129396600-129412200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr7:129396600-129416600	Weak transcription	Esophagus	oesophagus
10	chr7:129397000-129410600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr7:129397000-129417200	Weak transcription	Hela-S3	cervix
12	chr7:129397200-129411600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr7:129397800-129410400	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr7:129402800-129417800	Weak transcription	Gastric	stomach
15	chr7:129404800-129415800	Weak transcription	NHEK	skin
16	chr7:129405800-129411400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr7:129406000-129410600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr7:129406600-129408000	Enhancers	HSMMtube	muscle
19	chr7:129406600-129408200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr7:129407000-129408000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr7:129407000-129408800	Transcr. at gene 5' and 3'	K562	blood
22	chr7:129407000-129410800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
23	chr7:129407200-129408000	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr7:129407200-129408000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr7:129407400-129408600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr7:129407400-129410600	Weak transcription	Primary B cells from peripheral blood	blood
27	chr7:129407400-129410600	Weak transcription	Spleen	Spleen
28	chr7:129407600-129411000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr7:129407800-129408800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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