Variant report

Variant	rs12295325
Chromosome Location	chr11:59950157-59950158
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr11:59950069-59950446	MCF10A-Er-Src	breast:	n/a	chr11:59950252-59950262 chr11:59950252-59950262 chr11:59950252-59950262
2	FOS	chr11:59950073-59950435	MCF10A-Er-Src	breast:	n/a	chr11:59950252-59950262 chr11:59950252-59950262 chr11:59950252-59950262
3	FOS	chr11:59950075-59950440	MCF10A-Er-Src	breast:	n/a	chr11:59950252-59950262 chr11:59950252-59950262 chr11:59950252-59950262
4	FOS	chr11:59950067-59950436	MCF10A-Er-Src	breast:	n/a	chr11:59950252-59950262 chr11:59950252-59950262 chr11:59950252-59950262
5	CEBPB	chr11:59950101-59950384	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
MS4A6A	TF binding region

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10082619	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10082648	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10128741	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10466662	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10466683	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10897012	1.00[AMR][1000 genomes]
rs11230139	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11230159	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11230175	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11230176	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11230177	0.91[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	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12271072	1.00[AMR][1000 genomes]
rs12271845	1.00[AMR][1000 genomes]
rs12271938	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12272417	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12274187	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12277654	1.00[AMR][1000 genomes]
rs12278512	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12279586	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12281124	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12281249	1.00[AMR][1000 genomes]
rs12281339	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12281633	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12282483	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12284742	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12285212	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12285390	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12286820	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12286935	1.00[AMR][1000 genomes]
rs12287486	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12287735	1.00[AMR][1000 genomes]
rs12288390	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12288966	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12289301	1.00[AMR][1000 genomes]
rs12289305	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12289397	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12291241	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12291355	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12291992	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12293784	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12293900	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12294265	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12294531	1.00[AMR][1000 genomes]
rs12295720	1.00[AMR][1000 genomes]
rs13377336	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1837785	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4405337	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57191082	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58413906	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59692218	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59786720	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60175493	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61363655	0.91[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:35 , 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	chr11:59948400-59950200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
6	chr11:59948600-59950600	Active TSS	Liver	Liver
7	chr11:59948600-59950600	Active TSS	Fetal Muscle Leg	muscle
8	chr11:59948800-59951000	Active TSS	Primary monocytes fromperipheralblood	blood
9	chr11:59949000-59950400	Active TSS	Brain Hippocampus Middle	brain
10	chr11:59949000-59950400	Active TSS	Placenta	Placenta
11	chr11:59949000-59950600	Active TSS	Brain Anterior Caudate	brain
12	chr11:59949000-59950600	Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr11:59949000-59950600	Active TSS	Rectal Mucosa Donor 29	rectum
14	chr11:59949200-59950600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
15	chr11:59949200-59950600	Active TSS	Monocytes-CD14+_RO01746	blood
16	chr11:59949600-59950200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr11:59949800-59950200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr11:59949800-59950200	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr11:59949800-59950200	Active TSS	Fetal Muscle Trunk	muscle
20	chr11:59949800-59950200	Active TSS	Left Ventricle	heart
21	chr11:59949800-59950200	Active TSS	Stomach Smooth Muscle	stomach
22	chr11:59949800-59950200	Active TSS	Spleen	Spleen
23	chr11:59949800-59950400	Flanking Active TSS	Primary hematopoietic stem cells	blood
24	chr11:59949800-59950400	Active TSS	Rectal Smooth Muscle	rectum
25	chr11:59949800-59950400	Active TSS	Skeletal Muscle Female	skeletal muscle
26	chr11:59949800-59950600	Active TSS	Right Atrium	heart
27	chr11:59949800-59951000	Enhancers	Dnd41	blood
28	chr11:59949800-59952000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr11:59950000-59950200	Active TSS	Primary B cells from cord blood	blood
30	chr11:59950000-59950400	Flanking Active TSS	Fetal Intestine Large	intestine
31	chr11:59950000-59950600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr11:59950000-59950600	Active TSS	Duodenum Mucosa	Duodenum
33	chr11:59950000-59950800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr11:59950000-59951600	Enhancers	HUVEC	blood vessel
35	chr11:59950000-59954800	Enhancers	Primary B cells from peripheral blood	blood

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