Variant report

Variant	rs12574672
Chromosome Location	chr11:86407973-86407974
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:86407227..86410961-chr11:86511491..86515054,3	MCF-7	breast:
2	chr11:86400130..86402377-chr11:86406306..86409290,2	K562	blood:
3	chr11:86402633..86405322-chr11:86405764..86408374,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000150687	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10898526	0.94[ASN][1000 genomes]
rs11234738	0.91[ASN][1000 genomes]
rs11234739	0.89[ASN][1000 genomes]
rs11234741	0.91[ASN][1000 genomes]
rs11234743	0.91[ASN][1000 genomes]
rs11234745	0.94[ASN][1000 genomes]
rs11234746	0.95[ASN][1000 genomes]
rs12573953	0.85[EUR][1000 genomes]
rs12575580	0.82[EUR][1000 genomes]
rs12789412	0.86[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs17211584	0.82[EUR][1000 genomes]
rs17818845	0.85[EUR][1000 genomes]
rs2433412	0.94[ASN][1000 genomes]
rs2433413	0.84[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2433414	0.93[ASN][1000 genomes]
rs2433415	0.93[ASN][1000 genomes]
rs4619178	0.84[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs471780	0.82[EUR][1000 genomes]
rs539214	0.82[EUR][1000 genomes]
rs543336	0.89[ASN][1000 genomes]
rs544199	0.87[ASN][1000 genomes]
rs56095595	0.82[EUR][1000 genomes]
rs56316139	0.82[EUR][1000 genomes]
rs575273	0.90[ASN][1000 genomes]
rs575468	0.90[ASN][1000 genomes]
rs581796	0.82[EUR][1000 genomes]
rs600242	0.89[ASN][1000 genomes]
rs60229086	0.85[EUR][1000 genomes]
rs602498	0.94[ASN][1000 genomes]
rs60379752	0.85[EUR][1000 genomes]
rs623785	0.82[EUR][1000 genomes]
rs659301	0.82[EUR][1000 genomes]
rs66878934	0.97[AFR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs67655324	0.97[AFR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs687138	0.82[EUR][1000 genomes]
rs72957437	0.82[EUR][1000 genomes]
rs72957439	0.82[EUR][1000 genomes]
rs72957441	0.82[EUR][1000 genomes]
rs72957457	0.82[EUR][1000 genomes]
rs72957470	0.81[EUR][1000 genomes]
rs72957473	0.85[EUR][1000 genomes]
rs72957476	0.85[EUR][1000 genomes]
rs72959410	0.85[EUR][1000 genomes]
rs72959421	0.85[EUR][1000 genomes]
rs72959427	0.85[EUR][1000 genomes]
rs72959431	0.87[EUR][1000 genomes]
rs72961766	1.00[AFR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72961771	0.93[ASN][1000 genomes]
rs746491	0.93[ASN][1000 genomes]
rs7933920	0.92[ASN][1000 genomes]
rs7939319	0.91[ASN][1000 genomes]
rs7948924	0.89[ASN][1000 genomes]
rs949348	0.91[ASN][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	nsv1044081	chr11:86133641-86868560	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv541118	chr11:86133641-86868560	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv555665	chr11:86230898-86417553	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1055071	chr11:86301240-86465465	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv428263	chr11:86357990-86508480	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86385200-86411400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr11:86386600-86431000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr11:86388000-86409600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr11:86399600-86415800	Weak transcription	Fetal Heart	heart
5	chr11:86400600-86410800	Weak transcription	Psoas Muscle	Psoas
6	chr11:86400600-86414800	Weak transcription	Ovary	ovary
7	chr11:86402800-86408000	Enhancers	HSMM	muscle
8	chr11:86402800-86408600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr11:86402800-86410600	Enhancers	NHDF-Ad	bronchial
10	chr11:86403000-86408000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr11:86403200-86408000	Enhancers	Osteobl	bone
12	chr11:86403400-86408400	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr11:86404800-86408400	Enhancers	HMEC	breast
14	chr11:86405000-86408600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr11:86405400-86408400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr11:86405600-86411200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr11:86405800-86408400	Enhancers	NHLF	lung
18	chr11:86406000-86408000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr11:86406000-86408200	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr11:86406000-86408600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr11:86406200-86408600	Enhancers	NHEK	skin
22	chr11:86406400-86408400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr11:86406400-86408400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr11:86406400-86408600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr11:86406600-86408000	Enhancers	Aorta	Aorta
26	chr11:86406800-86408000	Enhancers	Stomach Smooth Muscle	stomach
27	chr11:86407000-86408400	Enhancers	Hela-S3	cervix
28	chr11:86407000-86410800	Weak transcription	Colon Smooth Muscle	Colon
29	chr11:86407000-86451600	Weak transcription	Left Ventricle	heart
30	chr11:86407600-86408000	Enhancers	Muscle Satellite Cultured Cells	--
31	chr11:86407600-86408600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr11:86407600-86408600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr11:86407600-86408600	Enhancers	NH-A	brain
34	chr11:86407600-86412800	Weak transcription	Rectal Smooth Muscle	rectum
35	chr11:86407600-86417000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr11:86407800-86409600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr11:86407800-86409600	Weak transcription	A549	lung
38	chr11:86407800-86409600	Weak transcription	HSMMtube	muscle
39	chr11:86407800-86409800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr11:86407800-86410400	Weak transcription	HUVEC	blood vessel

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