Variant report

Variant	rs12636943
Chromosome Location	chr3:111918692-111918693
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:111916552..111919160-chr3:111921905..111924645,2	K562	blood:
2	chr2:183179551..183180178-chr3:111918314..111918885,2	MCF-7	breast:

Extended variants
information (count: 146 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:142)

rs_ID	r²[population]
rs10511304	1.00[CHB][hapmap]
rs10511310	0.96[CEU][hapmap];1.00[CHB][hapmap]
rs10934145	0.81[CEU][hapmap]
rs10934163	1.00[CHB][hapmap]
rs10934164	1.00[CHB][hapmap]
rs11707558	0.81[CEU][hapmap]
rs11922559	0.80[CEU][hapmap]
rs11926389	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12488760	0.81[CEU][hapmap]
rs12489470	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12489616	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[YRI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12497979	1.00[CHB][hapmap]
rs12634769	0.81[CEU][hapmap]
rs13063452	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[YRI][hapmap]
rs13064242	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[YRI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13084103	1.00[CHB][hapmap]
rs13091454	0.87[CEU][hapmap]
rs13098660	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1388858	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1388859	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1492489	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17444215	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17446282	0.95[CEU][hapmap];1.00[CHB][hapmap]
rs17446744	0.83[CEU][hapmap]
rs17505536	0.95[CEU][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1873712	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1907763	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1907764	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2399419	1.00[CHB][hapmap]
rs2895391	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4234409	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4234410	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4234411	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4234412	0.81[CEU][hapmap]
rs4234413	0.80[CEU][hapmap]
rs4280608	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4282033	0.80[CEU][hapmap]
rs4321508	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4347976	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4373039	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4392388	0.81[CEU][hapmap]
rs4401339	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4401342	0.81[CEU][hapmap]
rs4422273	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4434123	0.95[CEU][hapmap];1.00[CHB][hapmap];0.87[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4498008	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4505669	0.81[CEU][hapmap]
rs4507228	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4538347	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4560270	0.83[CEU][hapmap]
rs4564946	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4622877	0.94[CEU][hapmap]
rs4638935	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4682087	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4682092	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4682367	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4682373	1.00[CEU][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4682380	0.81[CEU][hapmap]
rs55714509	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55869871	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55899888	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56042414	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56062310	1.00[ASN][1000 genomes]
rs56109455	1.00[ASN][1000 genomes]
rs56129827	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56353930	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62276971	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62276973	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62276974	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62277010	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62277011	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62277480	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62280198	1.00[ASN][1000 genomes]
rs62280199	1.00[ASN][1000 genomes]
rs62280204	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62280205	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6438037	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6438038	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6770357	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6772480	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6781207	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6781215	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6781344	0.80[CEU][hapmap]
rs6781683	1.00[ASN][1000 genomes]
rs6781844	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6787323	0.96[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6789875	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6795820	1.00[CHB][hapmap]
rs6797177	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6798551	0.81[CEU][hapmap]
rs6801795	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6804836	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6805112	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6805397	1.00[CHB][hapmap];0.84[YRI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6805505	0.95[CEU][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6805887	1.00[CEU][hapmap];0.84[YRI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73218074	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73218079	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223686	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs732686	1.00[CHB][hapmap]
rs7431999	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[YRI][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7432037	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7612748	1.00[CHB][hapmap]
rs7613061	0.80[CEU][hapmap]
rs7615460	1.00[CEU][hapmap];0.92[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7616261	0.81[CEU][hapmap]
rs7621219	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7621431	1.00[CHB][hapmap]
rs7624367	0.80[CEU][hapmap]
rs7625249	0.95[CEU][hapmap];1.00[CHB][hapmap];0.87[YRI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7627314	0.83[CEU][hapmap]
rs7631223	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7636107	1.00[CHB][hapmap]
rs7637676	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs7637682	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7638520	0.80[CEU][hapmap]
rs9288939	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[YRI][hapmap]
rs9288942	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[YRI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9758396	0.81[CEU][hapmap]
rs9809384	0.80[CEU][hapmap]
rs9809404	0.80[CEU][hapmap]
rs9810170	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9810421	1.00[CHB][hapmap]
rs9811691	1.00[CHB][hapmap]
rs9813882	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9818407	1.00[CHB][hapmap]
rs9819540	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9820711	0.85[EUR][1000 genomes]
rs9822786	0.80[CEU][hapmap]
rs9823421	0.81[CEU][hapmap]
rs9825712	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9826043	0.80[CEU][hapmap]
rs9838986	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9841885	0.93[AMR][1000 genomes]
rs9847574	0.85[CEU][hapmap]
rs9855755	0.83[CEU][hapmap];1.00[CHB][hapmap]
rs9860819	0.83[CEU][hapmap]
rs9871492	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9871532	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9877734	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9878213	0.80[CEU][hapmap]
rs9879184	0.80[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010219	chr3:111856709-111923647	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
2	nsv10307	chr3:111903974-112087686	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv591291	chr3:111914624-111962851	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription	Chromatin interactive region	n/a	inside rSNPs	n/a
4	nsv591292	chr3:111914624-111993915	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:111906200-111918800	Weak transcription	Fetal Heart	heart
2	chr3:111913000-111923200	Weak transcription	Pancreas	Pancrea
3	chr3:111913200-111930000	Weak transcription	Left Ventricle	heart
4	chr3:111915400-111923400	Weak transcription	Aorta	Aorta
5	chr3:111916400-111919000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr3:111918400-111919000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr3:111918400-111919000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr3:111918400-111919000	Enhancers	HMEC	breast
9	chr3:111918600-111921200	Weak transcription	Rectal Mucosa Donor 31	rectum

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