Variant report

Variant	rs2433430
Chromosome Location	chr11:86448118-86448119
allele	A/G/T
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:86430742..86432818-chr11:86447067..86449171,2	MCF-7	breast:
2	chr11:86446644..86449202-chr11:86509894..86512786,2	MCF-7	breast:
3	chr11:86446514..86448356-chr11:86449836..86452632,2	K562	blood:
4	chr11:86390068..86392498-chr11:86447333..86449140,2	MCF-7	breast:
5	chr11:86445788..86450763-chr11:86452280..86455324,5	K562	blood:
6	chr11:86445700..86450143-chr11:86450733..86453676,4	MCF-7	breast:
7	chr11:86382791..86384819-chr11:86445397..86448151,2	MCF-7	breast:
8	chr11:86446536..86448977-chr8:126441223..126442943,2	MCF-7	breast:
9	chr11:86445661..86448422-chr11:86500757..86504196,4	MCF-7	breast:
10	chr11:86442349..86444552-chr11:86447054..86448697,2	MCF-7	breast:
11	chr11:86415734..86419675-chr11:86447085..86451465,5	MCF-7	breast:
12	chr11:86447300..86456471-chr11:86483287..86490697,27	MCF-7	breast:
13	chr11:86446334..86448722-chr11:86490852..86493629,3	MCF-7	breast:
14	chr11:86445705..86457398-chr11:86504607..86518485,46	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000150687	Chromatin interaction
ENSG00000173334	Chromatin interaction
ENSG00000151376	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs2433409	0.84[ASN][1000 genomes]
rs2433410	0.83[ASN][1000 genomes]
rs2433411	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2433424	0.87[ASN][1000 genomes]
rs2433425	0.86[ASN][1000 genomes]
rs2433426	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2433427	0.88[ASN][1000 genomes]
rs2433428	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2433429	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2433431	0.87[ASN][1000 genomes]
rs2433432	0.88[ASN][1000 genomes]
rs2512996	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2512997	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2512998	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2512999	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2513000	0.86[ASN][1000 genomes]
rs2513001	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2513003	0.86[ASN][1000 genomes]
rs2513006	0.84[ASN][1000 genomes]
rs2513008	0.84[ASN][1000 genomes]
rs2513009	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2513010	0.82[ASN][1000 genomes]
rs2513011	0.82[ASN][1000 genomes]
rs2513012	0.82[ASN][1000 genomes]
rs3096711	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3096714	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4586194	0.85[ASN][1000 genomes]
rs7108176	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7108300	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7124794	0.84[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:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86407000-86451600	Weak transcription	Left Ventricle	heart
2	chr11:86424200-86449800	Weak transcription	Pancreas	Pancrea
3	chr11:86446000-86451600	Enhancers	NHLF	lung
4	chr11:86446000-86451800	Enhancers	HUVEC	blood vessel
5	chr11:86446000-86452000	Enhancers	HSMM	muscle
6	chr11:86446000-86458000	Enhancers	HMEC	breast
7	chr11:86446200-86448600	Enhancers	Fetal Brain Male	brain
8	chr11:86446200-86452000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr11:86446200-86452000	Enhancers	NH-A	brain
10	chr11:86446200-86452000	Enhancers	Osteobl	bone
11	chr11:86446200-86453200	Enhancers	Fetal Lung	lung
12	chr11:86446400-86448200	Enhancers	Fetal Brain Female	brain
13	chr11:86446400-86448400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr11:86446400-86449000	Enhancers	HSMMtube	muscle
15	chr11:86446400-86455200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr11:86446600-86452600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr11:86446600-86453400	Enhancers	Fetal Stomach	stomach
18	chr11:86446800-86450800	Weak transcription	Esophagus	oesophagus
19	chr11:86446800-86455400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr11:86447000-86450000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr11:86447200-86448400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr11:86447200-86448400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr11:86447200-86449000	Weak transcription	NHEK	skin
24	chr11:86447200-86450800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:86447200-86451000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr11:86447400-86448400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr11:86447400-86448400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr11:86447400-86449000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr11:86447400-86450200	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr11:86447400-86451000	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr11:86447400-86455200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr11:86447600-86451000	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr11:86447600-86451600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr11:86447600-86454200	Enhancers	NHDF-Ad	bronchial
35	chr11:86447800-86448200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr11:86447800-86448200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr11:86447800-86448200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr11:86447800-86448200	Enhancers	Fetal Muscle Trunk	muscle
39	chr11:86447800-86448800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr11:86447800-86448800	Enhancers	Lung	lung
41	chr11:86447800-86449200	Enhancers	Psoas Muscle	Psoas
42	chr11:86447800-86449200	Enhancers	Stomach Smooth Muscle	stomach
43	chr11:86447800-86453400	Enhancers	Fetal Muscle Leg	muscle
44	chr11:86447800-86453800	Enhancers	Ovary	ovary
45	chr11:86448000-86448200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr11:86448000-86448600	Enhancers	Fetal Thymus	thymus
47	chr11:86448000-86449200	Enhancers	Right Atrium	heart
48	chr11:86448000-86449400	Enhancers	Colon Smooth Muscle	Colon
49	chr11:86448000-86449600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr11:86448000-86449800	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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