Variant report

Variant	rs12186685
Chromosome Location	chr5:111576056-111576057
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:111570748..111572939-chr5:111575269..111576914,2	K562	blood:
2	chr5:111576050..111577872-chr5:111578668..111581533,2	MCF-7	breast:

Extended variants
information (count: 126 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:119)

rs_ID	r²[population]
rs10037824	1.00[ASN][1000 genomes]
rs10040749	1.00[CHD][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs10054560	1.00[ASN][1000 genomes]
rs10065740	1.00[CEU][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10068493	0.95[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10069011	1.00[ASN][1000 genomes]
rs10070995	1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs1020951	1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs10463433	1.00[ASN][1000 genomes]
rs10477478	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10478073	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1054724	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs1078128	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11241153	1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs11241160	1.00[ASN][1000 genomes]
rs12187589	1.00[ASN][1000 genomes]
rs12187787	1.00[ASN][1000 genomes]
rs12188700	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12189034	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13153601	1.00[ASN][1000 genomes]
rs1366144	1.00[ASN][1000 genomes]
rs1427978	1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1560052	1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs1560053	1.00[ASN][1000 genomes]
rs1560054	1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[ASN][1000 genomes]
rs1560055	1.00[ASN][1000 genomes]
rs1560057	1.00[ASN][1000 genomes]
rs1560058	1.00[ASN][1000 genomes]
rs1560061	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs17134319	1.00[ASN][1000 genomes]
rs17134348	1.00[ASN][1000 genomes]
rs17271934	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs17343994	1.00[ASN][1000 genomes]
rs17345175	1.00[ASN][1000 genomes]
rs1896620	1.00[ASN][1000 genomes]
rs1896621	1.00[ASN][1000 genomes]
rs1966565	0.82[AMR][1000 genomes]
rs1975015	1.00[ASN][1000 genomes]
rs2114991	1.00[CHD][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs2416277	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs27413	1.00[ASN][1000 genomes]
rs386446	1.00[ASN][1000 genomes]
rs4130532	0.94[MKK][hapmap]
rs4518451	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4602685	1.00[CHD][hapmap];0.86[GIH][hapmap];0.92[MEX][hapmap];1.00[ASN][1000 genomes]
rs4957632	1.00[ASN][1000 genomes]
rs4957634	1.00[ASN][1000 genomes]
rs4957636	1.00[ASN][1000 genomes]
rs4958002	1.00[ASN][1000 genomes]
rs4958003	1.00[ASN][1000 genomes]
rs4958004	1.00[ASN][1000 genomes]
rs4958009	1.00[ASN][1000 genomes]
rs4958010	1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[ASN][1000 genomes]
rs4958012	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4958013	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4958014	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4958015	1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs4958020	1.00[ASN][1000 genomes]
rs4958024	0.83[CEU][hapmap]
rs4958025	1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[ASN][1000 genomes]
rs55639430	1.00[ASN][1000 genomes]
rs55796748	1.00[ASN][1000 genomes]
rs55829200	1.00[ASN][1000 genomes]
rs55845736	1.00[ASN][1000 genomes]
rs55913426	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56108405	1.00[ASN][1000 genomes]
rs56288086	1.00[ASN][1000 genomes]
rs56293447	1.00[ASN][1000 genomes]
rs56307310	1.00[ASN][1000 genomes]
rs56881711	1.00[ASN][1000 genomes]
rs57428532	1.00[ASN][1000 genomes]
rs59537089	1.00[ASN][1000 genomes]
rs60636568	1.00[ASN][1000 genomes]
rs61061658	1.00[ASN][1000 genomes]
rs62365251	1.00[ASN][1000 genomes]
rs62367266	1.00[ASN][1000 genomes]
rs62372421	1.00[ASN][1000 genomes]
rs6594566	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs6594567	1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs6594569	1.00[ASN][1000 genomes]
rs6594571	1.00[ASN][1000 genomes]
rs6594574	1.00[ASN][1000 genomes]
rs6594577	1.00[ASN][1000 genomes]
rs6594588	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs66521031	1.00[ASN][1000 genomes]
rs66550707	1.00[ASN][1000 genomes]
rs66892745	1.00[ASN][1000 genomes]
rs67033649	1.00[ASN][1000 genomes]
rs67586008	1.00[ASN][1000 genomes]
rs67631852	1.00[ASN][1000 genomes]
rs6863063	1.00[ASN][1000 genomes]
rs6872947	1.00[CHD][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs6876893	0.84[ASW][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6878117	1.00[ASN][1000 genomes]
rs6878423	1.00[CHD][hapmap];0.86[GIH][hapmap];0.92[MEX][hapmap];1.00[ASN][1000 genomes]
rs6884589	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6893877	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs6894036	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs72781655	1.00[ASN][1000 genomes]
rs72781664	1.00[ASN][1000 genomes]
rs72781668	1.00[ASN][1000 genomes]
rs72781677	1.00[ASN][1000 genomes]
rs72781678	1.00[ASN][1000 genomes]
rs7703522	1.00[CHD][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs7704087	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7706160	1.00[ASN][1000 genomes]
rs7709484	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7710973	1.00[ASN][1000 genomes]
rs7711158	1.00[ASN][1000 genomes]
rs7715255	0.84[MEX][hapmap]
rs7716309	1.00[ASN][1000 genomes]
rs7717160	0.84[ASW][hapmap];1.00[CHD][hapmap];0.80[LWK][hapmap];1.00[YRI][hapmap];1.00[ASN][1000 genomes]
rs7717363	1.00[ASN][1000 genomes]
rs7719346	1.00[CHD][hapmap];0.89[GIH][hapmap];0.95[LWK][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7722291	1.00[ASN][1000 genomes]
rs821736	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs821749	1.00[CHD][hapmap];1.00[ASN][1000 genomes]
rs890757	1.00[ASN][1000 genomes]
rs890758	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	nsv599367	chr5:110924280-111602713	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1015302	chr5:111339022-111802947	Enhancers Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv537861	chr5:111339022-111802947	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv599368	chr5:111399885-112032675	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv948869	chr5:111476404-111695183	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv531291	chr5:111497440-111756788	Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv599371	chr5:111519018-111676755	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:111504800-111586400	Weak transcription	Gastric	stomach
2	chr5:111558600-111584400	Weak transcription	Psoas Muscle	Psoas
3	chr5:111558800-111591400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr5:111564200-111581400	Weak transcription	Aorta	Aorta
5	chr5:111564600-111576600	Weak transcription	Ovary	ovary
6	chr5:111564600-111580200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr5:111564600-111586400	Weak transcription	Lung	lung
8	chr5:111564600-111590000	Weak transcription	Left Ventricle	heart
9	chr5:111564600-111609600	Weak transcription	Pancreas	Pancrea
10	chr5:111564800-111577200	Weak transcription	Liver	Liver
11	chr5:111564800-111582800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr5:111564800-111589400	Weak transcription	HUVEC	blood vessel
13	chr5:111567400-111602400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr5:111568600-111609600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr5:111569200-111576800	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr5:111569600-111581400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr5:111569600-111589000	Weak transcription	Adipose Nuclei	Adipose
18	chr5:111571200-111581400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr5:111572200-111577000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr5:111572200-111584000	Weak transcription	Hela-S3	cervix
21	chr5:111572400-111582400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:111572600-111576200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr5:111574000-111581400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr5:111574800-111581400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr5:111575600-111576200	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr5:111575800-111576200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr5:111575800-111576200	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr5:111575800-111576200	ZNF genes & repeats	Esophagus	oesophagus
29	chr5:111575800-111576400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr5:111576000-111576200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr5:111576000-111576200	Genic enhancers	Fetal Heart	heart
32	chr5:111576000-111576200	Enhancers	A549	lung

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