Variant report

Variant	rs241322
Chromosome Location	chr1:228917346-228917347
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	chr1:228913388..228915243-chr1:228916401..228917971,2	MCF-7	breast:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997801	chr1:228786702-228975127	Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv870365	chr1:228788356-229267904	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription 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	14 gene(s)	inside rSNPs	diseases
3	nsv998255	chr1:228791784-228919202	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv549299	chr1:228793246-229455876	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv468316	chr1:228854703-228919202	Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv549300	chr1:228854703-228919202	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
7	esv3434842	chr1:228916329-228919827	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv3388136	chr1:228916429-228919727	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228912600-228920800	Weak transcription	Fetal Thymus	thymus
2	chr1:228915400-228921200	Weak transcription	Monocytes-CD14+_RO01746	blood
3	chr1:228915600-228919200	Weak transcription	Primary monocytes fromperipheralblood	blood
4	chr1:228916400-228917800	Enhancers	Fetal Lung	lung
5	chr1:228916400-228918400	Enhancers	HepG2	liver
6	chr1:228916400-228919600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr1:228916600-228917600	Enhancers	Brain Substantia Nigra	brain
8	chr1:228916600-228917800	Enhancers	Placenta	Placenta
9	chr1:228916600-228917800	Enhancers	Fetal Stomach	stomach
10	chr1:228916600-228920600	Enhancers	Placenta Amnion	Placenta Amnion
11	chr1:228916800-228917400	Enhancers	Brain Hippocampus Middle	brain
12	chr1:228916800-228917600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr1:228916800-228917800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr1:228916800-228918000	Enhancers	Brain Cingulate Gyrus	brain
15	chr1:228916800-228919200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:228916800-228921000	Enhancers	Fetal Intestine Small	intestine
17	chr1:228917000-228917400	Flanking Active TSS	Brain Anterior Caudate	brain
18	chr1:228917000-228917400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
19	chr1:228917000-228917400	Active TSS	Fetal Brain Male	brain
20	chr1:228917000-228917400	Weak transcription	Right Atrium	heart
21	chr1:228917000-228917400	Weak transcription	Right Ventricle	heart
22	chr1:228917000-228917600	Enhancers	Brain Angular Gyrus	brain
23	chr1:228917000-228917600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr1:228917000-228917800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr1:228917000-228917800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr1:228917000-228917800	Enhancers	Adipose Nuclei	Adipose
27	chr1:228917000-228917800	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr1:228917000-228918000	Bivalent Enhancer	Fetal Heart	heart
29	chr1:228917000-228918000	Enhancers	Ovary	ovary
30	chr1:228917000-228918800	Enhancers	NHDF-Ad	bronchial
31	chr1:228917000-228919200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr1:228917000-228919200	Enhancers	Psoas Muscle	Psoas
33	chr1:228917000-228921000	Enhancers	Fetal Intestine Large	intestine
34	chr1:228917200-228917600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr1:228917200-228917600	Enhancers	Fetal Brain Female	brain
36	chr1:228917200-228917800	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr1:228917200-228920200	Enhancers	Stomach Mucosa	stomach

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