Variant report

Variant	rs55995041
Chromosome Location	chr7:129442278-129442279
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:129435656..129438159-chr7:129441228..129443565,3	K562	blood:
2	chr7:129418686..129423959-chr7:129438384..129442719,6	MCF-7	breast:
3	chr7:129403968..129406043-chr7:129441740..129443595,2	K562	blood:
4	chr7:129420506..129423623-chr7:129440322..129443284,4	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs12530580	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12532959	1.00[AFR][1000 genomes]
rs12533953	1.00[AFR][1000 genomes]
rs12534134	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs1464970	1.00[AFR][1000 genomes]
rs2693737	0.87[ASN][1000 genomes]
rs2693739	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2727470	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs34463221	1.00[AFR][1000 genomes]
rs34629832	1.00[AFR][1000 genomes]
rs55732825	1.00[AFR][1000 genomes]
rs55748031	1.00[AFR][1000 genomes]
rs55767113	1.00[AFR][1000 genomes]
rs55817702	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs55846850	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs55951852	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs55955026	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56025626	1.00[AFR][1000 genomes]
rs56069073	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs56102526	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs56225229	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs56322631	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs56368013	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs56390630	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs73487527	0.87[ASN][1000 genomes]
rs868055	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	esv33085	chr7:129438848-129446659	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129436600-129444600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:129438200-129444600	Weak transcription	Spleen	Spleen
3	chr7:129438400-129443600	Weak transcription	Gastric	stomach
4	chr7:129439400-129444600	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr7:129441200-129445400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr7:129441400-129442600	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr7:129441600-129442600	Enhancers	H9 Cell Line	embryonic stem cell
8	chr7:129441600-129442600	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr7:129441800-129442400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:129441800-129442600	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr7:129441800-129442600	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr7:129441800-129444200	Enhancers	Fetal Muscle Leg	muscle
13	chr7:129442000-129442600	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr7:129442000-129442800	Enhancers	H1 Cell Line	embryonic stem cell
15	chr7:129442000-129442800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr7:129442200-129445000	Weak transcription	K562	blood

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