Variant report

Variant	rs11050381
Chromosome Location	chr12:29846458-29846459
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10843487	1.00[CEU][hapmap];0.95[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10843488	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10843489	0.86[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11050349	1.00[CEU][hapmap];0.85[JPT][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11050362	1.00[CEU][hapmap];0.85[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11050366	1.00[CEU][hapmap];0.95[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11050368	1.00[CEU][hapmap];0.95[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11050369	1.00[CEU][hapmap];0.95[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11050370	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11050371	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11050372	1.00[CEU][hapmap];0.94[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11050373	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11050376	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11050377	1.00[CEU][hapmap];0.95[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11050378	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11050395	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12228621	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12229285	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12229631	1.00[CEU][hapmap];0.95[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12229806	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12230192	1.00[CEU][hapmap];0.95[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12230211	1.00[CEU][hapmap];0.95[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1549406	1.00[CEU][hapmap];0.95[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1549407	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16934747	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16934759	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16934763	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16934774	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1863223	0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs2113877	1.00[CEU][hapmap];0.95[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2113878	1.00[CEU][hapmap];0.95[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2162031	1.00[CEU][hapmap];0.95[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2199622	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2219763	0.95[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2219764	1.00[CEU][hapmap];0.95[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2350662	1.00[CEU][hapmap];0.95[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2350663	1.00[CEU][hapmap];0.95[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2882465	1.00[CEU][hapmap];0.95[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2882466	1.00[CEU][hapmap];0.95[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56669383	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61309041	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7299952	1.00[CEU][hapmap];0.86[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs759886	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7978346	0.95[ASN][1000 genomes]
rs9634105	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9634106	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9634107	0.92[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	nsv1053641	chr12:29268813-29854413	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats 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	40 gene(s)	inside rSNPs	diseases
2	nsv529328	chr12:29692414-30246209	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv3484985	chr12:29842885-29847783	Flanking Active TSS Weak transcription Enhancers	n/a	n/a	inside rSNPs	n/a
4	nsv557921	chr12:29843095-29859352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
5	esv3485007	chr12:29843843-29846964	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	n/a
6	esv6043	chr12:29844191-29846669	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	n/a
7	esv3484996	chr12:29844242-29846540	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	n/a
8	esv3485018	chr12:29844299-29846534	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	n/a
9	esv3484952	chr12:29844302-29846510	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	n/a
10	esv3484963	chr12:29844325-29846469	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	n/a
11	nsv826292	chr12:29844357-29846660	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	n/a
12	esv1826337	chr12:29844526-29851719	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
13	nsv557930	chr12:29844526-29851719	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
14	nsv557939	chr12:29844628-29851719	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
15	nsv557953	chr12:29844857-29851719	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
16	nsv557956	chr12:29845070-29851719	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29820200-29851600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:29825400-29847800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr12:29828600-29854000	Weak transcription	Aorta	Aorta
4	chr12:29830000-29854000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr12:29830000-29861600	Weak transcription	Fetal Muscle Leg	muscle
6	chr12:29830200-29857400	Weak transcription	HSMM	muscle
7	chr12:29830400-29857400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr12:29830600-29858000	Weak transcription	Stomach Smooth Muscle	stomach
9	chr12:29830800-29862600	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr12:29831400-29850400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr12:29835000-29846800	Weak transcription	Right Ventricle	heart
12	chr12:29837600-29864200	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr12:29838000-29851800	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr12:29839400-29858400	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr12:29840600-29859000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr12:29842000-29847800	Weak transcription	Psoas Muscle	Psoas
17	chr12:29842200-29847000	Weak transcription	Fetal Heart	heart
18	chr12:29842400-29847600	Weak transcription	Left Ventricle	heart
19	chr12:29844400-29851600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr12:29844600-29850400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr12:29844800-29850800	Weak transcription	HMEC	breast
22	chr12:29844800-29851200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:29845000-29847000	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr12:29845200-29851000	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr12:29845400-29846600	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr12:29845600-29847000	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr12:29845600-29850400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr12:29845600-29851000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr12:29845600-29851000	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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