Variant report

Variant	rs12099044
Chromosome Location	chr11:86409807-86409808
allele	A/G
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	POLR2A	chr11:86409702-86409961	ProgFib	skin:	n/a	n/a
2	STAT3	chr11:86409733-86409889	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:86407227..86410961-chr11:86511491..86515054,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254731	TF binding region
ENSG00000150687	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11819827	1.00[JPT][hapmap]
rs17149180	1.00[ASN][1000 genomes]
rs17149305	0.85[CEU][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17149308	0.82[CEU][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17149311	0.82[CEU][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17149319	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs17149320	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs17149325	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs17149326	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1945141	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2156532	1.00[ASN][1000 genomes]
rs4614483	1.00[ASN][1000 genomes]
rs483538	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs55642252	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55862210	0.80[EUR][1000 genomes]
rs55960749	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs56272084	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58173252	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58968600	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59227416	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59339534	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59415795	1.00[ASN][1000 genomes]
rs61182121	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61230561	0.87[AMR][1000 genomes]
rs61248687	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61372386	1.00[ASN][1000 genomes]
rs622079	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7103556	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7103642	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72961775	1.00[ASN][1000 genomes]
rs73514376	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73528019	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7941124	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
6	nsv1049157	chr11:86409059-86504155	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 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	chr11:86399600-86415800	Weak transcription	Fetal Heart	heart
4	chr11:86400600-86410800	Weak transcription	Psoas Muscle	Psoas
5	chr11:86400600-86414800	Weak transcription	Ovary	ovary
6	chr11:86402800-86410600	Enhancers	NHDF-Ad	bronchial
7	chr11:86405600-86411200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr11:86407000-86410800	Weak transcription	Colon Smooth Muscle	Colon
9	chr11:86407000-86451600	Weak transcription	Left Ventricle	heart
10	chr11:86407600-86412800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr11:86407600-86417000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr11:86407800-86410400	Weak transcription	HUVEC	blood vessel
13	chr11:86408000-86413200	Weak transcription	Stomach Smooth Muscle	stomach
14	chr11:86408000-86431400	Weak transcription	Aorta	Aorta
15	chr11:86408200-86413200	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr11:86408400-86412400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr11:86408400-86413200	Weak transcription	NHLF	lung
18	chr11:86408600-86412600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr11:86409000-86410600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr11:86409400-86410200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr11:86409400-86410600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr11:86409400-86410600	Enhancers	Muscle Satellite Cultured Cells	--
23	chr11:86409400-86410800	Enhancers	Osteobl	bone
24	chr11:86409600-86410000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr11:86409600-86410000	Enhancers	HSMMtube	muscle
26	chr11:86409600-86410200	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr11:86409600-86410200	Enhancers	HSMM	muscle
28	chr11:86409600-86410400	Enhancers	NH-A	brain
29	chr11:86409600-86410600	Enhancers	NHEK	skin
30	chr11:86409600-86410800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr11:86409600-86410800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr11:86409600-86410800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr11:86409600-86410800	Enhancers	A549	lung
34	chr11:86409600-86411000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr11:86409600-86411000	Enhancers	HMEC	breast
36	chr11:86409600-86413000	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr11:86409800-86410200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr11:86409800-86410600	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr11:86409800-86410800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr11:86409800-86410800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr11:86409800-86410800	Enhancers	Hela-S3	cervix
42	chr11:86409800-86411000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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