Variant report

Variant	rs12289305
Chromosome Location	chr11:59936722-59936723
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:59929729..59931318-chr11:59936371..59938548,3	K562	blood:
2	chr11:59936023..59937006-chr11:59960779..59961684,2	MCF-7	breast:
3	chr11:59926973..59929170-chr11:59934444..59937067,2	K562	blood:

Variant related genes	Relation type
ENSG00000254952	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10082619	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[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10897012	1.00[AMR][1000 genomes]
rs11230139	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11230159	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11230175	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11230176	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[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12277654	1.00[AMR][1000 genomes]
rs12278512	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12279586	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[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12281633	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12282483	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12284742	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[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]
rs12289397	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12291241	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12291355	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12291992	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12293784	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12293900	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12294265	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[AMR][1000 genomes]
rs13377336	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:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832173	chr11:59788884-59940560	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	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
3	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
4	esv33843	chr11:59908131-59945334	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	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:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:59935600-59937200	Strong transcription	Primary monocytes fromperipheralblood	blood
2	chr11:59935600-59937400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
3	chr11:59935600-59940400	Enhancers	HUVEC	blood vessel
4	chr11:59935800-59937000	ZNF genes & repeats	Spleen	Spleen
5	chr11:59935800-59947200	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr11:59936000-59936800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
7	chr11:59936200-59936800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr11:59936200-59936800	Enhancers	HMEC	breast
9	chr11:59936200-59937800	Genic enhancers	Monocytes-CD14+_RO01746	blood
10	chr11:59936200-59938200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr11:59936400-59936800	Enhancers	Colonic Mucosa	Colon
12	chr11:59936400-59936800	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr11:59936400-59937000	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr11:59936400-59937000	ZNF genes & repeats	Dnd41	blood
15	chr11:59936400-59938600	Enhancers	Hela-S3	cervix
16	chr11:59936600-59937000	Enhancers	Adipose Nuclei	Adipose
17	chr11:59936600-59937200	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood

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