Variant report

Variant	rs74054242
Chromosome Location	chr11:8889494-8889495
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	chr11:8854026..8855722-chr11:8888927..8890740,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000166444	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1967655	1.00[AMR][1000 genomes]
rs55776498	1.00[AMR][1000 genomes]
rs56070502	1.00[AMR][1000 genomes]
rs61690977	1.00[AMR][1000 genomes]
rs74053310	1.00[AMR][1000 genomes]
rs74054241	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74054251	1.00[AMR][1000 genomes]
rs74055030	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758256	chr11:8784813-9009573	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv2759803	chr11:8784813-9009573	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv435923	chr11:8839325-9000602	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv832062	chr11:8849295-9009472	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	esv3413845	chr11:8887279-9285127	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	esv3402630	chr11:8887304-8893757	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	esv3325077	chr11:8887314-8893755	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	5 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	chr11:8863200-8890400	Weak transcription	Fetal Muscle Trunk	muscle
2	chr11:8878200-8891800	Weak transcription	Psoas Muscle	Psoas
3	chr11:8880200-8892000	Weak transcription	Gastric	stomach
4	chr11:8884200-8889600	Enhancers	NHDF-Ad	bronchial
5	chr11:8884400-8891800	Weak transcription	Left Ventricle	heart
6	chr11:8885600-8891400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr11:8885600-8891400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr11:8885800-8889600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr11:8885800-8889800	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr11:8885800-8889800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr11:8885800-8891400	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr11:8885800-8891400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr11:8885800-8891400	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr11:8885800-8891800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr11:8886000-8889600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr11:8886000-8889600	Weak transcription	Ovary	ovary
17	chr11:8886200-8889600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr11:8886200-8889600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr11:8886800-8889600	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr11:8887000-8890200	Enhancers	Fetal Lung	lung
21	chr11:8887200-8891400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr11:8887200-8891600	Weak transcription	Adipose Nuclei	Adipose
23	chr11:8887200-8891800	Weak transcription	Brain Substantia Nigra	brain
24	chr11:8887200-8892000	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr11:8887400-8891400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr11:8888000-8889600	Enhancers	Muscle Satellite Cultured Cells	--
27	chr11:8888000-8889800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr11:8888000-8890200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr11:8888000-8890400	Enhancers	NH-A	brain
30	chr11:8888000-8890600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr11:8888000-8890800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr11:8888000-8891600	Enhancers	Placenta	Placenta
33	chr11:8888000-8891600	Enhancers	Placenta Amnion	Placenta Amnion
34	chr11:8888200-8889600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr11:8888200-8889600	Enhancers	Osteobl	bone
36	chr11:8888200-8890000	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr11:8888200-8890200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr11:8888200-8890400	Enhancers	NHEK	skin
39	chr11:8888200-8891400	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr11:8888200-8891400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr11:8888200-8891600	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr11:8888400-8890600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr11:8888400-8891400	Enhancers	Fetal Stomach	stomach
44	chr11:8888400-8891800	Weak transcription	Brain Angular Gyrus	brain
45	chr11:8888600-8889800	Enhancers	Stomach Smooth Muscle	stomach
46	chr11:8888600-8891400	Enhancers	Fetal Muscle Leg	muscle
47	chr11:8888600-8891800	Weak transcription	Stomach Mucosa	stomach
48	chr11:8888800-8889600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr11:8888800-8889600	Enhancers	NHLF	lung
50	chr11:8888800-8889800	Weak transcription	A549	lung

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