Variant report

Variant	rs11050997
Chromosome Location	chr12:30769336-30769337
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:30767290..30770253-chr12:30787174..30789721,2	K562	blood:

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs10431223	1.00[EUR][1000 genomes]
rs11050960	1.00[EUR][1000 genomes]
rs11050962	1.00[EUR][1000 genomes]
rs11050963	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11050964	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11050965	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11050974	0.82[ASN][1000 genomes]
rs11050975	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11050976	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11050978	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11050979	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11050980	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11050981	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11050982	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11050995	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11050996	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11050998	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11050999	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11051000	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11051001	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11051004	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11051011	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11051014	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11051016	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11051017	0.92[ASN][1000 genomes]
rs11051021	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11051024	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11051025	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11051031	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11051032	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11051036	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11051039	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11051040	1.00[CHB][hapmap];0.88[JPT][hapmap];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11051043	0.84[EUR][1000 genomes]
rs11051064	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs11051067	0.92[EUR][1000 genomes]
rs11051074	0.92[EUR][1000 genomes]
rs11531057	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11534760	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11561156	1.00[EUR][1000 genomes]
rs1157125	0.92[EUR][1000 genomes]
rs11613738	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs12228212	1.00[EUR][1000 genomes]
rs12229358	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12229986	1.00[CHB][hapmap];0.84[JPT][hapmap];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12230006	0.84[EUR][1000 genomes]
rs12230490	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12231670	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16906574	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16906582	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16906596	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16906601	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16906606	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16906611	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs16906667	0.85[YRI][hapmap]
rs16906713	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16906758	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs16916147	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2114900	0.92[EUR][1000 genomes]
rs3850958	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3850959	0.91[ASN][1000 genomes]
rs3889761	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3898255	0.92[EUR][1000 genomes]
rs57735299	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60712960	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60721042	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7137533	0.86[YRI][hapmap]
rs7962761	0.81[YRI][hapmap]
rs7970293	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7971480	0.86[YRI][hapmap]
rs7977562	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3343291	chr12:30455597-30992837	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:30766800-30770200	Weak transcription	Liver	Liver
2	chr12:30767000-30780800	Weak transcription	Fetal Muscle Leg	muscle
3	chr12:30767000-30784800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr12:30767000-30785600	Weak transcription	Pancreas	Pancrea
5	chr12:30767000-30844200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:30767200-30770000	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr12:30767200-30770600	Weak transcription	HepG2	liver
8	chr12:30767400-30770400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr12:30767600-30780800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr12:30767600-30780800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr12:30769000-30769800	Weak transcription	Brain Germinal Matrix	brain

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