Variant report

Variant	rs550684055
Chromosome Location	chr1:227981856-227981857
allele	-/A
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:227976724..227980772-chr1:227980865..227984605,4	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534002	chr1:227315186-228047108	Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	nsv1007479	chr1:227695868-227984466	Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv1010605	chr1:227770415-228332690	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
4	esv32853	chr1:227880116-228806209	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
5	nsv427952	chr1:227881664-228308629	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
6	nsv826908	chr1:227895386-228691100	Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
7	nsv873249	chr1:227920061-228121548	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv468238	chr1:227935762-228045748	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv549272	chr1:227935762-228045748	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
10	nsv1005852	chr1:227957099-228148363	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
11	nsv535319	chr1:227957099-228148363	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
12	esv3375606	chr1:227981854-227984702	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227977000-227982000	Weak transcription	Right Ventricle	heart
2	chr1:227977000-227982400	Weak transcription	Brain Angular Gyrus	brain
3	chr1:227977000-227985000	Weak transcription	Gastric	stomach
4	chr1:227977200-227982000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr1:227977400-227982000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr1:227977400-227982200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:227977400-227982400	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr1:227977600-227982000	Weak transcription	HMEC	breast
9	chr1:227980000-227982000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:227980000-227982200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr1:227980000-227983600	Enhancers	Fetal Muscle Leg	muscle
12	chr1:227980000-227983800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
13	chr1:227980200-227982400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr1:227980400-227982800	Enhancers	H1 Cell Line	embryonic stem cell
15	chr1:227980400-227983000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr1:227980600-227982600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:227980600-227982800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr1:227980600-227982800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr1:227980800-227982000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr1:227980800-227982000	Enhancers	NH-A	brain
21	chr1:227980800-227982000	Enhancers	NHDF-Ad	bronchial
22	chr1:227980800-227982000	Enhancers	NHLF	lung
23	chr1:227980800-227982800	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr1:227981000-227982800	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr1:227981000-227982800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr1:227981000-227982800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr1:227981000-227982800	Enhancers	Ovary	ovary
28	chr1:227981200-227982000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr1:227981200-227982000	Enhancers	Muscle Satellite Cultured Cells	--
30	chr1:227981200-227982200	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr1:227981200-227982600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr1:227981200-227982600	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr1:227981200-227982800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr1:227981200-227982800	Enhancers	HSMMtube	muscle
35	chr1:227981400-227982200	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr1:227981400-227982600	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr1:227981400-227982800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr1:227981400-227982800	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr1:227981400-227982800	Enhancers	Colonic Mucosa	Colon
40	chr1:227981400-227982800	Enhancers	Esophagus	oesophagus
41	chr1:227981400-227982800	Enhancers	Fetal Lung	lung
42	chr1:227981400-227982800	Bivalent Enhancer	Fetal Stomach	stomach
43	chr1:227981400-227982800	Enhancers	Placenta Amnion	Placenta Amnion
44	chr1:227981400-227982800	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr1:227981600-227982000	Enhancers	Colon Smooth Muscle	Colon
46	chr1:227981600-227982200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr1:227981600-227982800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr1:227981600-227982800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr1:227981600-227982800	Flanking Active TSS	Stomach Smooth Muscle	stomach
50	chr1:227981800-227982200	Weak transcription	Right Atrium	heart

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