Variant report

Variant	rs4411333
Chromosome Location	chr12:82819138-82819139
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:82818588..82822446-chr12:82827845..82830873,3	MCF-7	breast:

Extended variants
information (count: 184 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:176)

rs_ID	r²[population]
rs10219540	0.85[YRI][hapmap]
rs10506869	0.91[CEU][hapmap];1.00[CHB][hapmap];0.88[YRI][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10506872	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10506873	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10735453	0.91[CEU][hapmap];1.00[CHB][hapmap];0.94[YRI][hapmap];0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10735454	0.94[YRI][hapmap]
rs10735455	0.85[YRI][hapmap]
rs10746242	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10746243	0.88[YRI][hapmap]
rs10746244	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10746245	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10778888	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10778889	1.00[CHB][hapmap];0.94[YRI][hapmap];1.00[ASN][1000 genomes]
rs10778895	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10778897	0.85[YRI][hapmap]
rs10778902	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10778903	0.85[YRI][hapmap]
rs10778905	0.80[YRI][hapmap]
rs10778906	0.85[YRI][hapmap]
rs10778908	1.00[CHB][hapmap];0.83[YRI][hapmap]
rs10862480	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10862482	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10862486	0.85[YRI][hapmap]
rs11115234	1.00[ASN][1000 genomes]
rs11115240	1.00[ASN][1000 genomes]
rs11115241	1.00[ASN][1000 genomes]
rs11115242	1.00[ASN][1000 genomes]
rs11115308	1.00[ASN][1000 genomes]
rs11831879	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11832758	1.00[ASN][1000 genomes]
rs11835324	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11836773	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1494023	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1494024	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1494027	1.00[CHB][hapmap]
rs17711838	1.00[ASN][1000 genomes]
rs17712868	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17712927	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17719063	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17719970	1.00[ASN][1000 genomes]
rs17720305	1.00[ASN][1000 genomes]
rs17773938	0.83[CEU][hapmap];1.00[CHB][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17774157	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17774489	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17774872	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17775025	1.00[ASN][1000 genomes]
rs17775169	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17776036	1.00[ASN][1000 genomes]
rs17776290	1.00[ASN][1000 genomes]
rs17776375	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17776885	1.00[ASN][1000 genomes]
rs2254688	0.90[YRI][hapmap]
rs2401032	0.85[YRI][hapmap]
rs2401034	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2401035	0.91[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2401039	0.85[YRI][hapmap]
rs2642010	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2642015	0.83[YRI][hapmap]
rs2642018	0.85[YRI][hapmap]
rs2642019	0.85[YRI][hapmap]
rs2642023	0.85[YRI][hapmap]
rs2717446	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2717449	0.85[YRI][hapmap]
rs2717459	0.85[YRI][hapmap]
rs2731286	0.85[YRI][hapmap]
rs2731287	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2731289	0.90[YRI][hapmap]
rs2731290	0.83[YRI][hapmap]
rs2731291	0.83[YRI][hapmap]
rs2731292	0.85[YRI][hapmap]
rs2731295	0.82[YRI][hapmap]
rs2731297	0.86[AFR][1000 genomes]
rs2895910	0.85[YRI][hapmap]
rs2895912	0.83[YRI][hapmap]
rs2895914	0.83[CEU][hapmap];1.00[CHB][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2895915	0.85[YRI][hapmap]
rs2896434	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs34638401	1.00[ASN][1000 genomes]
rs34775923	1.00[ASN][1000 genomes]
rs4143187	0.85[YRI][hapmap]
rs4143188	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4143189	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4296098	0.83[YRI][hapmap]
rs4319577	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4334093	0.80[YRI][hapmap]
rs4343090	0.83[YRI][hapmap]
rs4356298	0.85[YRI][hapmap]
rs4370996	0.80[YRI][hapmap]
rs4387422	0.85[YRI][hapmap]
rs4399377	0.82[YRI][hapmap]
rs4417379	0.85[YRI][hapmap]
rs4491327	1.00[ASN][1000 genomes]
rs4495950	0.91[CEU][hapmap];1.00[CHB][hapmap];0.94[YRI][hapmap];0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4505128	0.85[YRI][hapmap]
rs4517594	0.84[YRI][hapmap]
rs4544081	1.00[CHB][hapmap]
rs4553425	0.83[YRI][hapmap]
rs4587790	0.82[YRI][hapmap]
rs4628747	0.85[YRI][hapmap]
rs4882389	0.85[YRI][hapmap]
rs4882390	0.85[YRI][hapmap]
rs4882435	0.84[YRI][hapmap]
rs4882453	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4882526	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4882527	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4882528	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4882530	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57418508	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6539659	1.00[ASN][1000 genomes]
rs6539662	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[YRI][hapmap];0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7138488	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs7294780	1.00[ASN][1000 genomes]
rs7294918	1.00[ASN][1000 genomes]
rs7295042	1.00[ASN][1000 genomes]
rs7297164	0.83[YRI][hapmap]
rs7299616	0.85[YRI][hapmap]
rs7304084	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7306421	1.00[ASN][1000 genomes]
rs7311246	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7313975	0.85[YRI][hapmap]
rs73149542	1.00[ASN][1000 genomes]
rs73149557	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73149567	1.00[ASN][1000 genomes]
rs73149577	1.00[ASN][1000 genomes]
rs73149595	1.00[ASN][1000 genomes]
rs73149597	1.00[ASN][1000 genomes]
rs73151403	1.00[ASN][1000 genomes]
rs73151413	1.00[ASN][1000 genomes]
rs73151422	1.00[ASN][1000 genomes]
rs73151425	1.00[ASN][1000 genomes]
rs73151445	1.00[ASN][1000 genomes]
rs73151447	1.00[ASN][1000 genomes]
rs73151450	1.00[ASN][1000 genomes]
rs73151460	1.00[ASN][1000 genomes]
rs73151484	1.00[ASN][1000 genomes]
rs73151489	1.00[ASN][1000 genomes]
rs73151496	1.00[ASN][1000 genomes]
rs73153504	1.00[ASN][1000 genomes]
rs73153509	1.00[ASN][1000 genomes]
rs73153526	1.00[ASN][1000 genomes]
rs73153530	1.00[ASN][1000 genomes]
rs73153534	1.00[ASN][1000 genomes]
rs73153539	1.00[ASN][1000 genomes]
rs73153551	1.00[ASN][1000 genomes]
rs73153559	1.00[ASN][1000 genomes]
rs73153561	1.00[ASN][1000 genomes]
rs73153569	1.00[ASN][1000 genomes]
rs73153571	1.00[ASN][1000 genomes]
rs73153572	1.00[ASN][1000 genomes]
rs73153573	1.00[ASN][1000 genomes]
rs73153577	1.00[ASN][1000 genomes]
rs73153578	1.00[ASN][1000 genomes]
rs73153584	1.00[ASN][1000 genomes]
rs73153585	1.00[ASN][1000 genomes]
rs73153587	1.00[ASN][1000 genomes]
rs73153588	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73153590	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73153592	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73153599	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73155404	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73155406	1.00[ASN][1000 genomes]
rs73155441	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7316500	0.85[YRI][hapmap]
rs7488252	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7954460	0.85[YRI][hapmap]
rs7956163	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7957993	1.00[ASN][1000 genomes]
rs7960966	1.00[ASN][1000 genomes]
rs7964174	1.00[ASN][1000 genomes]
rs7966041	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7967097	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7968024	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7971746	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7977442	0.94[YRI][hapmap]
rs8181688	0.85[YRI][hapmap]
rs8181705	0.85[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv559539	chr12:82280797-82896218	Genic enhancers Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1041954	chr12:82314981-83008609	Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv541550	chr12:82314981-83008609	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv1053093	chr12:82645292-83287809	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv541551	chr12:82645292-83287809	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv559541	chr12:82715210-83108395	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	nsv899348	chr12:82744187-83169297	Enhancers Strong transcription Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	esv1841396	chr12:82768717-82881082	Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4411333	RP11-263K4.3	cis	Thyroid	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:82758400-82835600	Weak transcription	Psoas Muscle	Psoas
2	chr12:82783000-82838000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr12:82789200-82833800	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr12:82791200-82852000	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr12:82793400-82834400	Weak transcription	Liver	Liver
6	chr12:82793600-82833000	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr12:82793600-82833200	Weak transcription	Primary B cells from cord blood	blood
8	chr12:82802200-82825000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr12:82802200-82834400	Weak transcription	Aorta	Aorta
10	chr12:82802200-82834400	Weak transcription	Ovary	ovary
11	chr12:82803600-82852000	Weak transcription	Left Ventricle	heart
12	chr12:82804600-82869400	Weak transcription	Colon Smooth Muscle	Colon
13	chr12:82809600-82832000	Weak transcription	Adipose Nuclei	Adipose
14	chr12:82809600-82834400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr12:82812600-82831200	Weak transcription	Small Intestine	intestine
16	chr12:82813200-82827200	Weak transcription	Fetal Stomach	stomach
17	chr12:82818400-82819600	Enhancers	HMEC	breast
18	chr12:82818600-82819200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr12:82818600-82819400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr12:82818600-82819400	Enhancers	HSMM	muscle
21	chr12:82818600-82819400	Enhancers	NHEK	skin
22	chr12:82818600-82819600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr12:82818600-82819600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr12:82818600-82819600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr12:82818600-82819600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr12:82818600-82819600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr12:82818600-82819600	Enhancers	NH-A	brain
28	chr12:82818800-82819200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr12:82818800-82819200	Enhancers	HSMMtube	muscle
30	chr12:82818800-82819600	Enhancers	Primary T cells from cord blood	blood
31	chr12:82818800-82819600	Enhancers	Muscle Satellite Cultured Cells	--
32	chr12:82818800-82820200	Enhancers	Stomach Mucosa	stomach

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