Variant report

Variant	rs11050361
Chromosome Location	chr12:29825617-29825618
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	chr12:29820059..29822400-chr12:29824073..29825750,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10219522	1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10771569	0.90[CHB][hapmap];0.81[CHD][hapmap];0.83[TSI][hapmap]
rs1079365	0.90[CHB][hapmap]
rs10843472	0.95[CHB][hapmap]
rs10843473	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10843476	0.90[CHB][hapmap];0.81[CHD][hapmap]
rs10843477	0.90[CHB][hapmap];0.81[CHD][hapmap]
rs10843478	0.90[CHB][hapmap]
rs10843479	0.85[CEU][hapmap];0.95[CHB][hapmap];0.87[CHD][hapmap];0.92[GIH][hapmap];0.88[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10843480	0.90[CHB][hapmap];0.81[CHD][hapmap]
rs10843481	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10843482	0.90[CHB][hapmap]
rs10843484	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10843485	0.90[CEU][hapmap];0.95[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10843490	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11050346	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11050350	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11050359	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11050365	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11050391	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11050396	0.90[ASW][hapmap];0.95[CEU][hapmap];0.85[CHB][hapmap];0.84[CHD][hapmap];0.89[GIH][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.91[YRI][hapmap];0.91[AMR][1000 genomes]
rs12368564	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1988266	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6487843	0.90[CEU][hapmap];0.90[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7135501	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs741613	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs741614	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs741615	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs741616	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7974503	0.89[CHD][hapmap];1.00[YRI][hapmap]
rs993994	0.90[CEU][hapmap];0.90[CHB][hapmap];0.88[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]

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	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	nsv1053629	chr12:29680163-29826626	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	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
4	nsv870004	chr12:29762415-29825798	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:29778400-29826000	Weak transcription	Fetal Kidney	kidney
2	chr12:29793400-29826200	Weak transcription	NHLF	lung
3	chr12:29794400-29831800	Weak transcription	Ovary	ovary
4	chr12:29794800-29829400	Weak transcription	Hela-S3	cervix
5	chr12:29806800-29829200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr12:29816600-29840400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr12:29820200-29851600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr12:29820400-29844200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:29821000-29827400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr12:29821200-29829600	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr12:29821400-29828600	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr12:29821400-29829800	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr12:29822400-29828200	Weak transcription	Aorta	Aorta
14	chr12:29822400-29840200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr12:29823000-29829400	Weak transcription	Right Atrium	heart
16	chr12:29824800-29825800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr12:29825200-29826000	Enhancers	Fetal Heart	heart
18	chr12:29825200-29826000	Enhancers	Fetal Muscle Leg	muscle
19	chr12:29825200-29826000	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr12:29825200-29827600	Enhancers	Muscle Satellite Cultured Cells	--
21	chr12:29825400-29826000	Enhancers	Psoas Muscle	Psoas
22	chr12:29825400-29826000	Enhancers	HSMMtube	muscle
23	chr12:29825400-29826200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr12:29825400-29826400	Enhancers	Colon Smooth Muscle	Colon
25	chr12:29825400-29829400	Weak transcription	Spleen	Spleen
26	chr12:29825400-29833200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr12:29825400-29847800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr12:29825600-29825800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:29825600-29825800	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr12:29825600-29825800	Enhancers	Brain Angular Gyrus	brain
31	chr12:29825600-29825800	Enhancers	Left Ventricle	heart
32	chr12:29825600-29825800	Enhancers	Lung	lung
33	chr12:29825600-29825800	Enhancers	Small Intestine	intestine
34	chr12:29825600-29826000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr12:29825600-29826000	Enhancers	Fetal Stomach	stomach
36	chr12:29825600-29826000	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr12:29825600-29826000	Enhancers	Stomach Smooth Muscle	stomach
38	chr12:29825600-29826200	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr12:29825600-29826200	Enhancers	HMEC	breast
40	chr12:29825600-29826400	Enhancers	HSMM	muscle
41	chr12:29825600-29827000	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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