Variant report

Variant	rs12293784
Chromosome Location	chr11:59949823-59949824
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10082619	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10082648	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10128741	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10466662	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10466683	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10897012	1.00[AMR][1000 genomes]
rs11230139	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11230159	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11230175	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11230176	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11230177	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11230179	1.00[AMR][1000 genomes]
rs11230181	1.00[AMR][1000 genomes]
rs11230185	1.00[AMR][1000 genomes]
rs11230189	1.00[AMR][1000 genomes]
rs11230191	1.00[AMR][1000 genomes]
rs11501460	1.00[AMR][1000 genomes]
rs12269729	1.00[AMR][1000 genomes]
rs12270211	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12271072	1.00[AMR][1000 genomes]
rs12271845	1.00[AMR][1000 genomes]
rs12271938	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12272417	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12274187	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12277654	1.00[AMR][1000 genomes]
rs12278512	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12279586	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12281124	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12281249	1.00[AMR][1000 genomes]
rs12281339	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12281633	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12282483	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12284742	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12285212	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12285390	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12286820	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12286935	1.00[AMR][1000 genomes]
rs12287486	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12287735	1.00[AMR][1000 genomes]
rs12288390	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12288966	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12289301	1.00[AMR][1000 genomes]
rs12289305	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12289397	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12291241	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12291355	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12291992	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12292001	1.00[YRI][hapmap]
rs12293900	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12294265	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12294531	1.00[AMR][1000 genomes]
rs12295325	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12295720	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs13377336	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1837785	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4405337	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57191082	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58413906	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59692218	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59786720	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60175493	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61363655	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv468579	chr11:59814287-59975400	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv555150	chr11:59814287-59975400	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv832174	chr11:59909267-60073908	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:59944000-59950400	Weak transcription	GM12878-XiMat	blood
2	chr11:59946800-59952000	Active TSS	Adipose Nuclei	Adipose
3	chr11:59947600-59953000	Enhancers	Fetal Intestine Small	intestine
4	chr11:59947800-59950600	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
5	chr11:59948000-59950000	Weak transcription	Primary B cells from peripheral blood	blood
6	chr11:59948400-59950200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
7	chr11:59948600-59950600	Active TSS	Liver	Liver
8	chr11:59948600-59950600	Active TSS	Fetal Muscle Leg	muscle
9	chr11:59948800-59951000	Active TSS	Primary monocytes fromperipheralblood	blood
10	chr11:59949000-59950400	Active TSS	Brain Hippocampus Middle	brain
11	chr11:59949000-59950400	Active TSS	Placenta	Placenta
12	chr11:59949000-59950600	Active TSS	Brain Anterior Caudate	brain
13	chr11:59949000-59950600	Active TSS	Duodenum Smooth Muscle	Duodenum
14	chr11:59949000-59950600	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr11:59949200-59950600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
16	chr11:59949200-59950600	Active TSS	Monocytes-CD14+_RO01746	blood
17	chr11:59949600-59950200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr11:59949800-59950000	Flanking Active TSS	Primary B cells from cord blood	blood
19	chr11:59949800-59950000	Active TSS	Fetal Intestine Large	intestine
20	chr11:59949800-59950200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr11:59949800-59950200	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr11:59949800-59950200	Active TSS	Fetal Muscle Trunk	muscle
23	chr11:59949800-59950200	Active TSS	Left Ventricle	heart
24	chr11:59949800-59950200	Active TSS	Stomach Smooth Muscle	stomach
25	chr11:59949800-59950200	Active TSS	Spleen	Spleen
26	chr11:59949800-59950400	Flanking Active TSS	Primary hematopoietic stem cells	blood
27	chr11:59949800-59950400	Active TSS	Rectal Smooth Muscle	rectum
28	chr11:59949800-59950400	Active TSS	Skeletal Muscle Female	skeletal muscle
29	chr11:59949800-59950600	Active TSS	Right Atrium	heart
30	chr11:59949800-59951000	Enhancers	Dnd41	blood
31	chr11:59949800-59952000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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