Variant report

Variant	rs549955140
Chromosome Location	chr12:50335861-50335862
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:50323141..50325275-chr12:50334464..50336385,2	MCF-7	breast:
2	chr12:50335624..50338438-chr12:50341957..50344338,2	K562	blood:
3	chr12:50330026..50331634-chr12:50334635..50337169,2	MCF-7	breast:
4	chr12:50334465..50337544-chr12:50338372..50341772,4	K562	blood:

Variant related genes	Relation type
ENSG00000257771	Chromatin interaction

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	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer 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	170 gene(s)	inside rSNPs	diseases
2	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
3	nsv522972	chr12:50196394-50410831	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv530671	chr12:50233858-50708991	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
5	nsv832407	chr12:50243268-50412236	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv558835	chr12:50275137-50433234	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
7	nsv899072	chr12:50326176-50379667	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
8	nsv899073	chr12:50335628-50360461	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50323400-50338800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr12:50327200-50338600	Weak transcription	Fetal Thymus	thymus
3	chr12:50331000-50338800	Weak transcription	Fetal Brain Female	brain
4	chr12:50332400-50336800	Weak transcription	Gastric	stomach
5	chr12:50332600-50336200	Weak transcription	NHEK	skin
6	chr12:50332600-50336800	Weak transcription	HMEC	breast
7	chr12:50332800-50336800	Weak transcription	Pancreas	Pancrea
8	chr12:50333400-50336400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:50333800-50336400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr12:50333800-50336400	Weak transcription	Fetal Lung	lung
11	chr12:50333800-50338600	Weak transcription	Right Atrium	heart
12	chr12:50334000-50336200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr12:50334000-50336800	Weak transcription	Stomach Mucosa	stomach
14	chr12:50334000-50339200	Weak transcription	Lung	lung
15	chr12:50335400-50336000	Enhancers	Fetal Brain Male	brain
16	chr12:50335400-50336400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr12:50335400-50336400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
18	chr12:50335400-50337600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr12:50335600-50339200	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr12:50335800-50336000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr12:50335800-50336400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
22	chr12:50335800-50336400	Enhancers	Hela-S3	cervix
23	chr12:50335800-50336800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr12:50335800-50337800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr12:50335800-50337800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr12:50335800-50338200	Enhancers	Esophagus	oesophagus
27	chr12:50335800-50338200	Enhancers	Spleen	Spleen
28	chr12:50335800-50338800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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