Variant report

Variant	rs2513004
Chromosome Location	chr11:86451001-86451002
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:86446514..86448356-chr11:86449836..86452632,2	K562	blood:
2	chr11:86450401..86454128-chr11:86509734..86516006,8	MCF-7	breast:
3	chr11:86429172..86438482-chr11:86450202..86456550,9	MCF-7	breast:
4	chr11:86450780..86453510-chr11:86484513..86491302,5	MCF-7	breast:
5	chr11:86445700..86450143-chr11:86450733..86453676,4	MCF-7	breast:
6	chr11:86448791..86451707-chr3:161088927..161090762,2	MCF-7	breast:
7	chr11:86450165..86452318-chr5:151007178..151009774,2	MCF-7	breast:
8	chr11:86449893..86452658-chr11:86468673..86470208,2	MCF-7	breast:
9	chr11:86415734..86419675-chr11:86447085..86451465,5	MCF-7	breast:
10	chr11:86447300..86456471-chr11:86483287..86490697,27	MCF-7	breast:
11	chr11:86445705..86457398-chr11:86504607..86518485,46	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000150687	Chromatin interaction
ENSG00000196542	Chromatin interaction
ENSG00000255250	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1075702	0.86[ASN][1000 genomes]
rs11234783	0.82[ASN][1000 genomes]
rs2433433	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2433434	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2433435	0.88[ASN][1000 genomes]
rs2433436	0.89[ASN][1000 genomes]
rs2433438	0.86[ASN][1000 genomes]
rs2433439	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2433440	0.89[ASN][1000 genomes]
rs2433441	0.89[ASN][1000 genomes]
rs2512978	0.89[ASN][1000 genomes]
rs2512979	0.89[ASN][1000 genomes]
rs2513000	0.82[EUR][1000 genomes]
rs2513003	0.88[EUR][1000 genomes]
rs2513005	0.88[ASN][1000 genomes]
rs2513018	0.85[ASN][1000 genomes]
rs2513019	0.88[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs3096715	0.88[ASN][1000 genomes]
rs3096716	0.89[ASN][1000 genomes]
rs3096717	0.88[ASN][1000 genomes]
rs4245426	0.84[ASN][1000 genomes]
rs4586194	0.82[EUR][1000 genomes]
rs4943957	0.82[ASN][1000 genomes]
rs4944629	0.81[ASN][1000 genomes]
rs7124794	0.82[EUR][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	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
4	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
5	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
6	nsv521505	chr11:86438115-86515072	Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86407000-86451600	Weak transcription	Left Ventricle	heart
2	chr11:86446000-86451600	Enhancers	NHLF	lung
3	chr11:86446000-86451800	Enhancers	HUVEC	blood vessel
4	chr11:86446000-86452000	Enhancers	HSMM	muscle
5	chr11:86446000-86458000	Enhancers	HMEC	breast
6	chr11:86446200-86452000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr11:86446200-86452000	Enhancers	NH-A	brain
8	chr11:86446200-86452000	Enhancers	Osteobl	bone
9	chr11:86446200-86453200	Enhancers	Fetal Lung	lung
10	chr11:86446400-86455200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr11:86446600-86452600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr11:86446600-86453400	Enhancers	Fetal Stomach	stomach
13	chr11:86446800-86455400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr11:86447400-86455200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr11:86447600-86451600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr11:86447600-86454200	Enhancers	NHDF-Ad	bronchial
17	chr11:86447800-86453400	Enhancers	Fetal Muscle Leg	muscle
18	chr11:86447800-86453800	Enhancers	Ovary	ovary
19	chr11:86448000-86452000	Enhancers	Muscle Satellite Cultured Cells	--
20	chr11:86448200-86451600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr11:86448200-86452200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:86448200-86454000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr11:86448400-86451600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr11:86448400-86454200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr11:86448400-86456000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr11:86448600-86451200	Weak transcription	Fetal Brain Male	brain
27	chr11:86449000-86451400	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr11:86449000-86451600	Enhancers	NHEK	skin
29	chr11:86449000-86455000	Enhancers	Stomach Mucosa	stomach
30	chr11:86449000-86455200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr11:86449200-86451200	Weak transcription	Adipose Nuclei	Adipose
32	chr11:86449200-86455000	Enhancers	HepG2	liver
33	chr11:86449400-86451400	Weak transcription	Fetal Heart	heart
34	chr11:86449400-86454400	Enhancers	K562	blood
35	chr11:86449600-86455600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr11:86449800-86451200	Enhancers	Lung	lung
37	chr11:86449800-86452400	Enhancers	Pancreas	Pancrea
38	chr11:86449800-86455000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr11:86449800-86455200	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr11:86450000-86451200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr11:86450000-86452000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr11:86450200-86451600	Enhancers	A549	lung
43	chr11:86450200-86452200	Weak transcription	Spleen	Spleen
44	chr11:86450200-86455200	Enhancers	Stomach Smooth Muscle	stomach
45	chr11:86450200-86459800	Enhancers	Placenta Amnion	Placenta Amnion
46	chr11:86450400-86452000	Enhancers	Colon Smooth Muscle	Colon
47	chr11:86450400-86452000	Enhancers	Hela-S3	cervix
48	chr11:86450400-86455000	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr11:86450600-86454800	Enhancers	Right Atrium	heart
50	chr11:86450600-86455200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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