Variant report

Variant	rs11234817
Chromosome Location	chr11:86521155-86521156
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:86519601..86524011-chr11:86524298..86526997,5	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10219261	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11234737	1.00[AMR][1000 genomes]
rs11234819	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11234820	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11234821	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11501851	1.00[AMR][1000 genomes]
rs11501852	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12272313	0.92[AFR][1000 genomes]
rs12280121	1.00[AMR][1000 genomes]
rs12280127	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12281724	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12283379	0.85[AFR][1000 genomes]
rs12291065	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs484481	1.00[AMR][1000 genomes]
rs4944623	1.00[AMR][1000 genomes]
rs643157	1.00[AMR][1000 genomes]
rs675455	1.00[AMR][1000 genomes]
rs9804580	1.00[AMR][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:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86512000-86527000	Weak transcription	Spleen	Spleen
2	chr11:86512800-86522800	Weak transcription	Pancreas	Pancrea
3	chr11:86513600-86525600	Weak transcription	Colonic Mucosa	Colon
4	chr11:86513800-86522200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr11:86513800-86522600	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr11:86514000-86523200	Weak transcription	Psoas Muscle	Psoas
7	chr11:86514000-86525400	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr11:86514000-86530000	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr11:86514200-86525600	Weak transcription	Fetal Lung	lung
10	chr11:86514600-86521400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr11:86515600-86521600	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:86515800-86525200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr11:86516200-86523400	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr11:86516600-86522800	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr11:86516600-86525400	Weak transcription	Fetal Heart	heart
16	chr11:86516600-86527200	Weak transcription	Adipose Nuclei	Adipose
17	chr11:86516800-86521600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr11:86516800-86527200	Weak transcription	Left Ventricle	heart
19	chr11:86517200-86521200	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr11:86517200-86523000	Weak transcription	Right Atrium	heart
21	chr11:86517200-86525400	Weak transcription	Fetal Muscle Leg	muscle
22	chr11:86517200-86529800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr11:86517600-86521400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr11:86517600-86522800	Weak transcription	Stomach Mucosa	stomach
25	chr11:86517800-86521400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr11:86517800-86521400	Strong transcription	HMEC	breast
27	chr11:86517800-86521600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr11:86517800-86522200	Strong transcription	HSMM	muscle
29	chr11:86518800-86522600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr11:86519200-86525400	Weak transcription	Aorta	Aorta
31	chr11:86519400-86523400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr11:86519800-86521200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr11:86519800-86521600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr11:86519800-86521800	Genic enhancers	A549	lung
35	chr11:86519800-86522400	Weak transcription	NHLF	lung
36	chr11:86519800-86522600	Weak transcription	Fetal Stomach	stomach
37	chr11:86519800-86522800	Weak transcription	Fetal Intestine Small	intestine
38	chr11:86519800-86523200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr11:86519800-86523200	Weak transcription	Lung	lung
40	chr11:86519800-86523400	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr11:86519800-86524400	Enhancers	Rectal Smooth Muscle	rectum
42	chr11:86519800-86525800	Weak transcription	Fetal Muscle Trunk	muscle
43	chr11:86520000-86522000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr11:86520000-86522000	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr11:86520000-86522200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr11:86520000-86522200	Weak transcription	Stomach Smooth Muscle	stomach
47	chr11:86520000-86522200	Weak transcription	NHEK	skin
48	chr11:86520000-86522600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr11:86520000-86522600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr11:86520000-86526800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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