Variant report

Variant	rs4291699
Chromosome Location	chr11:86523699-86523700
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:86519601..86524011-chr11:86524298..86526997,5	MCF-7	breast:
2	chr11:86521236..86523996-chr17:56707243..56709705,2	MCF-7	breast:
3	chr11:85338593..85340102-chr11:86521457..86524280,2	MCF-7	breast:
4	chr11:86343672..86346376-chr11:86522786..86524329,2	MCF-7	breast:
5	chr11:86339668..86341867-chr11:86523137..86524970,2	MCF-7	breast:
6	chr11:86516893..86519182-chr11:86522443..86524775,2	K562	blood:
7	chr11:86352364..86354456-chr11:86522479..86524729,2	MCF-7	breast:
8	chr11:86381955..86384212-chr11:86522586..86525573,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000171204	Chromatin interaction
ENSG00000150672	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000151376	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11602695	0.83[ASN][1000 genomes]
rs12420039	0.93[ASN][1000 genomes]
rs12421517	0.83[ASN][1000 genomes]
rs12421942	0.85[ASN][1000 genomes]
rs12574979	0.96[ASN][1000 genomes]
rs17212012	0.96[ASN][1000 genomes]
rs17819134	0.84[ASN][1000 genomes]
rs17819181	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17819187	0.93[ASN][1000 genomes]
rs1939110	0.87[ASN][1000 genomes]
rs1939111	0.96[ASN][1000 genomes]
rs1939112	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1939113	0.96[ASN][1000 genomes]
rs1939114	0.96[ASN][1000 genomes]
rs1939115	0.83[ASN][1000 genomes]
rs1939116	0.82[ASN][1000 genomes]
rs1939117	0.85[EUR][1000 genomes]
rs1954769	0.91[ASN][1000 genomes]
rs2155080	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2155081	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28517777	0.92[ASN][1000 genomes]
rs35902217	0.85[EUR][1000 genomes]
rs36061072	0.85[EUR][1000 genomes]
rs3809048	0.81[ASN][1000 genomes]
rs4304806	0.96[ASN][1000 genomes]
rs4307748	0.97[ASN][1000 genomes]
rs4423210	0.96[ASN][1000 genomes]
rs4485132	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7108490	0.97[ASN][1000 genomes]
rs7118751	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7126492	0.88[EUR][1000 genomes]
rs7131625	0.96[ASN][1000 genomes]
rs7931274	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7940201	0.82[EUR][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	esv2756074	chr11:86456552-86729552	Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv523704	chr11:86508928-86528437	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv2760199	chr11:86512312-86531118	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86512000-86527000	Weak transcription	Spleen	Spleen
2	chr11:86513600-86525600	Weak transcription	Colonic Mucosa	Colon
3	chr11:86514000-86525400	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr11:86514000-86530000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr11:86514200-86525600	Weak transcription	Fetal Lung	lung
6	chr11:86515800-86525200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr11:86516600-86525400	Weak transcription	Fetal Heart	heart
8	chr11:86516600-86527200	Weak transcription	Adipose Nuclei	Adipose
9	chr11:86516800-86527200	Weak transcription	Left Ventricle	heart
10	chr11:86517200-86525400	Weak transcription	Fetal Muscle Leg	muscle
11	chr11:86517200-86529800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr11:86519200-86525400	Weak transcription	Aorta	Aorta
13	chr11:86519800-86524400	Enhancers	Rectal Smooth Muscle	rectum
14	chr11:86519800-86525800	Weak transcription	Fetal Muscle Trunk	muscle
15	chr11:86520000-86526800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr11:86520000-86549200	Weak transcription	Ovary	ovary
17	chr11:86520400-86523800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr11:86521000-86551400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr11:86521600-86528400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr11:86521800-86525600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr11:86521800-86527800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr11:86522000-86524400	Enhancers	Muscle Satellite Cultured Cells	--
23	chr11:86522000-86524600	Enhancers	Colon Smooth Muscle	Colon
24	chr11:86522200-86523800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr11:86522200-86524000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr11:86522200-86524000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr11:86522200-86524200	Enhancers	HMEC	breast
28	chr11:86522200-86524200	Enhancers	NHEK	skin
29	chr11:86522200-86524400	Enhancers	NHDF-Ad	bronchial
30	chr11:86522400-86524000	Enhancers	NHLF	lung
31	chr11:86522400-86525600	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr11:86522600-86524400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr11:86522800-86524200	Enhancers	Stomach Mucosa	stomach
34	chr11:86522800-86544400	Weak transcription	Fetal Kidney	kidney
35	chr11:86523000-86523800	Enhancers	Right Atrium	heart
36	chr11:86523000-86525600	Weak transcription	Fetal Stomach	stomach
37	chr11:86523000-86525800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr11:86523200-86524000	Enhancers	A549	lung
39	chr11:86523200-86524400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr11:86523200-86525200	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr11:86523200-86525400	Weak transcription	Stomach Smooth Muscle	stomach
42	chr11:86523200-86525600	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr11:86523400-86524200	Weak transcription	HUVEC	blood vessel
44	chr11:86523400-86525200	Weak transcription	HSMM	muscle
45	chr11:86523400-86525400	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr11:86523400-86525600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr11:86523400-86525600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr11:86523400-86525600	Weak transcription	Lung	lung
49	chr11:86523400-86525600	Weak transcription	Osteobl	bone
50	chr11:86523400-86525800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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