Variant report

Variant	rs12643134
Chromosome Location	chr4:79268867-79268868
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:79267580..79269981-chr4:79274532..79277748,3	K562	blood:
2	chr4:79267050..79269903-chr4:79274110..79276032,2	K562	blood:

Extended variants
information (count: 132 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:116)

rs_ID	r²[population]
rs10008117	0.94[ASN][1000 genomes]
rs10010238	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10015470	1.00[ASN][1000 genomes]
rs10015547	1.00[ASN][1000 genomes]
rs10016220	0.94[ASN][1000 genomes]
rs10018431	0.94[ASN][1000 genomes]
rs10030962	0.94[ASN][1000 genomes]
rs10032457	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10155231	0.94[ASN][1000 genomes]
rs10155302	0.94[ASN][1000 genomes]
rs10155362	0.94[ASN][1000 genomes]
rs11098146	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11098162	0.89[ASN][1000 genomes]
rs11721347	0.94[ASN][1000 genomes]
rs11721437	0.94[ASN][1000 genomes]
rs12641549	0.94[ASN][1000 genomes]
rs12642918	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12643552	0.94[ASN][1000 genomes]
rs12647449	0.94[ASN][1000 genomes]
rs12650818	0.94[ASN][1000 genomes]
rs13114164	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13114483	0.94[ASN][1000 genomes]
rs13123934	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13124000	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13124048	0.98[EUR][1000 genomes]
rs13131912	0.94[ASN][1000 genomes]
rs1454890	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1454891	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1484339	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1484346	0.94[ASN][1000 genomes]
rs1484347	0.94[ASN][1000 genomes]
rs1484348	0.94[ASN][1000 genomes]
rs17003131	0.80[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs17003164	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1973256	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2004557	0.82[AFR][1000 genomes]
rs2008453	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28623348	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28645909	0.94[ASN][1000 genomes]
rs28654799	0.89[ASN][1000 genomes]
rs28685810	0.94[ASN][1000 genomes]
rs28756791	0.94[ASN][1000 genomes]
rs28826318	0.94[ASN][1000 genomes]
rs28861485	0.94[ASN][1000 genomes]
rs28868898	0.94[ASN][1000 genomes]
rs28871899	0.94[ASN][1000 genomes]
rs28891759	0.94[ASN][1000 genomes]
rs34141392	0.94[ASN][1000 genomes]
rs34193629	0.86[ASN][1000 genomes]
rs34204048	0.94[ASN][1000 genomes]
rs345543	1.00[ASN][1000 genomes]
rs34568699	0.94[ASN][1000 genomes]
rs35050841	0.94[ASN][1000 genomes]
rs35514354	0.94[ASN][1000 genomes]
rs35610069	0.94[ASN][1000 genomes]
rs365543	0.97[ASN][1000 genomes]
rs365657	1.00[ASN][1000 genomes]
rs366463	0.97[ASN][1000 genomes]
rs367885	0.86[ASN][1000 genomes]
rs368313	1.00[ASN][1000 genomes]
rs370865	0.86[ASN][1000 genomes]
rs371716	0.94[ASN][1000 genomes]
rs372736	1.00[ASN][1000 genomes]
rs374822	0.97[ASN][1000 genomes]
rs376200	1.00[ASN][1000 genomes]
rs380076	1.00[ASN][1000 genomes]
rs381503	0.97[ASN][1000 genomes]
rs385285	0.97[ASN][1000 genomes]
rs385809	1.00[ASN][1000 genomes]
rs386832	0.86[ASN][1000 genomes]
rs387122	1.00[ASN][1000 genomes]
rs388825	0.86[ASN][1000 genomes]
rs395186	1.00[ASN][1000 genomes]
rs402843	1.00[ASN][1000 genomes]
rs408224	1.00[ASN][1000 genomes]
rs408835	1.00[ASN][1000 genomes]
rs409061	1.00[ASN][1000 genomes]
rs410769	1.00[ASN][1000 genomes]
rs412797	1.00[ASN][1000 genomes]
rs415472	1.00[ASN][1000 genomes]
rs417621	0.97[ASN][1000 genomes]
rs423638	1.00[ASN][1000 genomes]
rs425699	0.97[ASN][1000 genomes]
rs427539	0.97[ASN][1000 genomes]
rs429977	0.97[ASN][1000 genomes]
rs431664	0.97[ASN][1000 genomes]
rs435317	0.97[ASN][1000 genomes]
rs437057	1.00[ASN][1000 genomes]
rs4386625	0.83[ASN][1000 genomes]
rs444500	0.86[ASN][1000 genomes]
rs445071	1.00[ASN][1000 genomes]
rs445869	0.86[ASN][1000 genomes]
rs445963	0.86[ASN][1000 genomes]
rs448353	0.97[ASN][1000 genomes]
rs452319	0.86[ASN][1000 genomes]
rs454498	0.97[ASN][1000 genomes]
rs454551	0.97[ASN][1000 genomes]
rs569894	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58220389	0.94[ASN][1000 genomes]
rs62309936	0.94[ASN][1000 genomes]
rs672608	1.00[ASN][1000 genomes]
rs71611019	0.94[ASN][1000 genomes]
rs72866338	0.80[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs72866340	0.80[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs72866341	0.80[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs72866344	0.80[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs72866347	0.80[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs72866348	0.80[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs72866349	0.82[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs7656232	0.94[ASN][1000 genomes]
rs7693638	0.83[ASN][1000 genomes]
rs7697470	0.94[ASN][1000 genomes]
rs7698873	0.94[ASN][1000 genomes]
rs9307386	0.94[ASN][1000 genomes]
rs9991478	0.94[ASN][1000 genomes]
rs9997865	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534024	chr4:78785189-79437403	ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv1009633	chr4:78887573-79652236	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv1010782	chr4:79057839-79387207	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv829978	chr4:79144453-79291868	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv4399	chr4:79251832-79284571	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
6	nsv508290	chr4:79259152-79277975	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv819290	chr4:79266834-79275538	Weak transcription Strong transcription ZNF genes & repeats Enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
8	nsv435786	chr4:79268353-79275254	Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
9	esv3507233	chr4:79268378-79276076	Weak transcription Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
10	esv990445	chr4:79268459-79275889	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
11	esv2446951	chr4:79268477-79275875	ZNF genes & repeats Weak transcription Strong transcription Bivalent Enhancer Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
12	esv3465521	chr4:79268723-79275615	Strong transcription Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
13	esv3507231	chr4:79268801-79275610	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
14	esv3507238	chr4:79268820-79275602	Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
15	nsv513140	chr4:79268852-79275209	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
16	esv8840	chr4:79268862-79275470	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:79258000-79275200	Weak transcription	Fetal Brain Female	brain
2	chr4:79258400-79269000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
3	chr4:79258800-79276800	Weak transcription	Fetal Kidney	kidney
4	chr4:79258800-79291000	Weak transcription	Fetal Lung	lung
5	chr4:79259200-79275400	Weak transcription	Brain Germinal Matrix	brain
6	chr4:79260800-79281000	Weak transcription	Fetal Intestine Small	intestine
7	chr4:79261000-79275200	Weak transcription	Fetal Intestine Large	intestine
8	chr4:79261400-79287800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr4:79262800-79277400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr4:79263000-79282200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr4:79263400-79283400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr4:79263600-79281000	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr4:79265200-79275600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr4:79265600-79277000	Weak transcription	HSMMtube	muscle
15	chr4:79266000-79280600	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr4:79266200-79275600	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr4:79266400-79284400	Weak transcription	HepG2	liver
18	chr4:79266800-79269200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr4:79266800-79276400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr4:79267800-79275200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr4:79268600-79269200	Enhancers	Fetal Brain Male	brain
22	chr4:79268600-79283200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr4:79268800-79280800	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr4:79268800-79283400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr4:79268800-79287400	Weak transcription	Pancreas	Pancrea

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