Variant report

Variant	rs11838277
Chromosome Location	chr12:104576635-104576636
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:104570742..104573318-chr12:104574956..104577002,2	K562	blood:
2	chr12:104566313..104569865-chr12:104572688..104576807,3	K562	blood:
3	chr12:104530299..104532759-chr12:104575223..104579205,3	MCF-7	breast:
4	chr12:104575420..104578369-chr12:104681215..104683180,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000120837	Chromatin interaction
ENSG00000198431	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10861184	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs10861201	1.00[CHB][hapmap]
rs10861203	1.00[CHB][hapmap]
rs11112003	1.00[CHB][hapmap]
rs1128446	1.00[CHB][hapmap]
rs11829922	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11836627	1.00[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11837739	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12303096	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12303143	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17035201	0.90[YRI][hapmap]
rs17035253	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17035296	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17806643	0.81[ASW][hapmap];0.95[LWK][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs17807362	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[GIH][hapmap];0.95[LWK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35861067	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4523760	1.00[CHB][hapmap]
rs57040145	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57416848	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs57718153	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58729796	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59185359	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59945395	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs60264625	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61690515	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7134193	1.00[CHB][hapmap]
rs7296260	0.86[ASN][1000 genomes]
rs73392529	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73392542	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73392580	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73392594	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73394503	0.82[EUR][1000 genomes]
rs73394521	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73394563	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7962942	1.00[CHB][hapmap]

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	nsv1045725	chr12:104524153-104614108	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	n/a
2	nsv541586	chr12:104524153-104614108	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	n/a
3	esv1842062	chr12:104531180-104638773	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	n/a
4	nsv899493	chr12:104548613-104703228	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	nsv899494	chr12:104561521-104806232	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104573600-104576800	Enhancers	Colon Smooth Muscle	Colon
2	chr12:104574000-104576800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr12:104574200-104576800	Enhancers	Muscle Satellite Cultured Cells	--
4	chr12:104574200-104576800	Enhancers	NHLF	lung
5	chr12:104574200-104577000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr12:104574200-104577000	Enhancers	Osteobl	bone
7	chr12:104574400-104576800	Enhancers	Rectal Smooth Muscle	rectum
8	chr12:104574400-104577000	Enhancers	Adipose Nuclei	Adipose
9	chr12:104574800-104576800	Enhancers	Placenta	Placenta
10	chr12:104575000-104577400	Enhancers	Pancreas	Pancrea
11	chr12:104575200-104576800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr12:104575200-104576800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr12:104575400-104576800	Enhancers	A549	lung
14	chr12:104575400-104577200	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr12:104576000-104577400	Enhancers	Aorta	Aorta
16	chr12:104576200-104576800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr12:104576600-104576800	Weak transcription	Stomach Smooth Muscle	stomach
18	chr12:104576600-104577000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr12:104576600-104577600	Enhancers	Hela-S3	cervix
20	chr12:104576600-104578200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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