Variant report

Variant	rs12441769
Chromosome Location	chr15:57116557-57116558
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:57112037..57114101-chr15:57115817..57118029,2	K562	blood:
2	chr15:57106197..57110196-chr15:57111997..57118015,6	K562	blood:
3	chr15:57110627..57113537-chr15:57115289..57118029,2	K562	blood:
4	chr15:57115805..57118368-chr15:57128099..57130760,2	K562	blood:

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs10518872	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11071285	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs12437635	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs12437714	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes]
rs12437735	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12437753	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12438377	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12438464	1.00[CEU][hapmap];1.00[AFR][1000 genomes]
rs12438572	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs12438728	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs12439010	1.00[AFR][1000 genomes]
rs12439116	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12439149	1.00[CEU][hapmap];1.00[AFR][1000 genomes]
rs12439165	1.00[AFR][1000 genomes]
rs12439547	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs12439563	0.89[EUR][1000 genomes]
rs12439697	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12439994	1.00[AFR][1000 genomes]
rs12440006	0.89[EUR][1000 genomes]
rs12440245	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs12440725	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs12440790	1.00[CEU][hapmap];1.00[AFR][1000 genomes]
rs12440891	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs12441185	1.00[CEU][hapmap]
rs12441200	1.00[CEU][hapmap]
rs12441263	1.00[CEU][hapmap];1.00[AFR][1000 genomes]
rs12441746	0.84[EUR][1000 genomes]
rs12441792	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12442069	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12442238	1.00[AFR][1000 genomes]
rs12442630	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes]
rs12442642	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs12442662	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs12442839	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs12443125	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs12443178	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12903143	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12907983	0.89[EUR][1000 genomes]
rs1364541	0.90[AMR][1000 genomes]
rs1529597	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs1564557	1.00[CEU][hapmap]
rs1600829	0.89[EUR][1000 genomes]
rs1631905	1.00[CEU][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1647386	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1647391	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16977123	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16977170	1.00[CEU][hapmap]
rs17238880	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs17238894	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17238901	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17238950	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17238971	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs17238992	1.00[AFR][1000 genomes]
rs17239020	1.00[AFR][1000 genomes]
rs17239047	1.00[AFR][1000 genomes]
rs17239068	1.00[CEU][hapmap];1.00[AFR][1000 genomes]
rs17239089	1.00[AFR][1000 genomes]
rs17819592	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs17819616	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17819646	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs17819658	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs17819664	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs17819694	1.00[AFR][1000 genomes]
rs17819755	1.00[CEU][hapmap];1.00[AFR][1000 genomes]
rs1816322	1.00[AFR][1000 genomes]
rs1834199	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2052641	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2161935	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2899599	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4287503	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4362334	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs4424865	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes]
rs4774885	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs480701	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs6493888	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7176472	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs74015901	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs966807	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][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	esv3422474	chr15:56867190-57244330	Strong transcription ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv569576	chr15:57012816-57126917	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv833020	chr15:57055947-57216068	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv457162	chr15:57083006-57225766	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv569577	chr15:57083006-57225766	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	nsv1042486	chr15:57094598-57505992	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv542393	chr15:57115116-57341363	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:57110000-57118600	Weak transcription	Aorta	Aorta
2	chr15:57110000-57138600	Weak transcription	Left Ventricle	heart
3	chr15:57112600-57116600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr15:57113000-57130400	Weak transcription	Thymus	Thymus
5	chr15:57114000-57117000	Enhancers	HSMMtube	muscle
6	chr15:57114200-57117000	Enhancers	HSMM	muscle
7	chr15:57114400-57123800	Weak transcription	Stomach Smooth Muscle	stomach
8	chr15:57114600-57116600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr15:57114600-57116600	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr15:57114600-57116600	Weak transcription	Psoas Muscle	Psoas
11	chr15:57114600-57116800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr15:57114600-57118800	Weak transcription	NHLF	lung
13	chr15:57114600-57121600	Weak transcription	Brain Germinal Matrix	brain
14	chr15:57114600-57123600	Weak transcription	Colon Smooth Muscle	Colon
15	chr15:57114600-57123800	Weak transcription	Brain Hippocampus Middle	brain
16	chr15:57114600-57124200	Weak transcription	Fetal Stomach	stomach
17	chr15:57114600-57124400	Weak transcription	Fetal Thymus	thymus
18	chr15:57114800-57116600	Weak transcription	HMEC	breast
19	chr15:57115800-57117200	Enhancers	Fetal Muscle Leg	muscle
20	chr15:57115800-57117600	Enhancers	Fetal Muscle Trunk	muscle
21	chr15:57116200-57117000	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr15:57116400-57117000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr15:57116400-57117000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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