Variant report

Variant	rs11234769
Chromosome Location	chr11:86450147-86450148
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:86446514..86448356-chr11:86449836..86452632,2	K562	blood:
2	chr11:86445788..86450763-chr11:86452280..86455324,5	K562	blood:
3	chr11:86448791..86451707-chr3:161088927..161090762,2	MCF-7	breast:
4	chr11:86449893..86452658-chr11:86468673..86470208,2	MCF-7	breast:
5	chr11:86415734..86419675-chr11:86447085..86451465,5	MCF-7	breast:
6	chr11:86447300..86456471-chr11:86483287..86490697,27	MCF-7	breast:
7	chr11:86445705..86457398-chr11:86504607..86518485,46	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196542	Chromatin interaction
ENSG00000150687	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10501629	1.00[ASN][1000 genomes]
rs10898527	0.83[EUR][1000 genomes]
rs10898528	0.83[EUR][1000 genomes]
rs10898531	0.82[EUR][1000 genomes]
rs11234760	0.86[EUR][1000 genomes]
rs11234761	0.87[EUR][1000 genomes]
rs11234765	0.87[EUR][1000 genomes]
rs11234767	0.86[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs11234768	0.86[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs11234776	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11234777	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11234778	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11234785	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11234798	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11234799	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11234800	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11234818	1.00[ASN][1000 genomes]
rs11602353	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11604205	1.00[ASN][1000 genomes]
rs11605575	1.00[ASN][1000 genomes]
rs11605608	1.00[ASN][1000 genomes]
rs11606102	1.00[ASN][1000 genomes]
rs11608167	1.00[ASN][1000 genomes]
rs12362635	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12362740	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12365944	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12791451	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12791740	0.83[EUR][1000 genomes]
rs12798749	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12807796	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17159941	1.00[ASN][1000 genomes]
rs17758195	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17758206	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17758334	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17758376	1.00[ASN][1000 genomes]
rs17758400	1.00[ASN][1000 genomes]
rs17820139	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1815753	1.00[ASN][1000 genomes]
rs2011913	1.00[ASN][1000 genomes]
rs34343472	0.83[EUR][1000 genomes]
rs34963582	1.00[ASN][1000 genomes]
rs35666652	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35781069	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4307742	0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57857339	1.00[ASN][1000 genomes]
rs58399373	1.00[ASN][1000 genomes]
rs66672297	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66827623	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67313042	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67588995	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67761566	1.00[ASN][1000 genomes]
rs67939314	1.00[ASN][1000 genomes]
rs7108254	0.83[EUR][1000 genomes]
rs7128805	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs71465659	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72967468	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72967500	1.00[ASN][1000 genomes]
rs72969403	1.00[ASN][1000 genomes]
rs72969405	1.00[ASN][1000 genomes]
rs72969407	1.00[ASN][1000 genomes]
rs72969411	1.00[ASN][1000 genomes]
rs72969419	1.00[ASN][1000 genomes]
rs72969422	1.00[ASN][1000 genomes]
rs72969425	1.00[ASN][1000 genomes]
rs72969430	1.00[ASN][1000 genomes]
rs72969432	1.00[ASN][1000 genomes]
rs72969443	1.00[ASN][1000 genomes]
rs72969477	1.00[ASN][1000 genomes]
rs7934478	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	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:63 , 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	chr11:86446800-86450800	Weak transcription	Esophagus	oesophagus
14	chr11:86446800-86455400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr11:86447200-86450800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:86447200-86451000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr11:86447400-86450200	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr11:86447400-86451000	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr11:86447400-86455200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr11:86447600-86451000	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr11:86447600-86451600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr11:86447600-86454200	Enhancers	NHDF-Ad	bronchial
23	chr11:86447800-86453400	Enhancers	Fetal Muscle Leg	muscle
24	chr11:86447800-86453800	Enhancers	Ovary	ovary
25	chr11:86448000-86451000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr11:86448000-86452000	Enhancers	Muscle Satellite Cultured Cells	--
27	chr11:86448200-86450800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr11:86448200-86451000	Weak transcription	Fetal Muscle Trunk	muscle
29	chr11:86448200-86451600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr11:86448200-86452200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr11:86448200-86454000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr11:86448400-86451600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr11:86448400-86454200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr11:86448400-86456000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr11:86448600-86451200	Weak transcription	Fetal Brain Male	brain
36	chr11:86449000-86451400	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr11:86449000-86451600	Enhancers	NHEK	skin
38	chr11:86449000-86455000	Enhancers	Stomach Mucosa	stomach
39	chr11:86449000-86455200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr11:86449200-86450200	Weak transcription	Stomach Smooth Muscle	stomach
41	chr11:86449200-86450600	Weak transcription	Right Atrium	heart
42	chr11:86449200-86451200	Weak transcription	Adipose Nuclei	Adipose
43	chr11:86449200-86455000	Enhancers	HepG2	liver
44	chr11:86449400-86450400	Weak transcription	Colon Smooth Muscle	Colon
45	chr11:86449400-86450400	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr11:86449400-86450800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr11:86449400-86451400	Weak transcription	Fetal Heart	heart
48	chr11:86449400-86454400	Enhancers	K562	blood
49	chr11:86449600-86455600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr11:86449800-86450200	Enhancers	Spleen	Spleen

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