Variant report

Variant	rs549088339
Chromosome Location	chr16:48572942-48572943
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:48570296..48572124-chr16:48572247..48574636,2	MCF-7	breast:
2	chr16:48572635..48573281-chr16:48656885..48657503,2	MCF-7	breast:
3	chr16:48559845..48562587-chr16:48571698..48574105,2	K562	blood:
4	chr16:48572005..48574156-chr16:48576994..48578777,2	K562	blood:

Variant related genes	Relation type
ENSG00000260086	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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	nsv1061316	chr16:48264175-48594219	Weak transcription Strong transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv428658	chr16:48438656-48587750	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv1064323	chr16:48531171-48573066	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv1060196	chr16:48531171-48578101	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	esv33450	chr16:48572307-48575919	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:48561000-48574400	Weak transcription	Fetal Intestine Large	intestine
2	chr16:48561000-48575200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr16:48565600-48573000	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr16:48566400-48583000	Weak transcription	Fetal Brain Male	brain
5	chr16:48568600-48573000	Enhancers	Left Ventricle	heart
6	chr16:48569000-48573200	Enhancers	Brain Cingulate Gyrus	brain
7	chr16:48569200-48573000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr16:48569200-48574000	Enhancers	Brain Substantia Nigra	brain
9	chr16:48569400-48573000	Enhancers	Colonic Mucosa	Colon
10	chr16:48569400-48573000	Enhancers	Fetal Thymus	thymus
11	chr16:48569400-48573600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr16:48569400-48578000	Strong transcription	Fetal Brain Female	brain
13	chr16:48569600-48573600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
14	chr16:48569600-48573600	Enhancers	Fetal Heart	heart
15	chr16:48569800-48573200	Enhancers	Liver	Liver
16	chr16:48569800-48573200	Enhancers	Stomach Mucosa	stomach
17	chr16:48569800-48580600	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr16:48570000-48575200	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr16:48570400-48575000	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr16:48570400-48575000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr16:48570400-48576600	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr16:48570400-48578800	Strong transcription	Brain Germinal Matrix	brain
23	chr16:48570600-48574800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr16:48570800-48573200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr16:48570800-48573400	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr16:48571000-48573800	Genic enhancers	Spleen	Spleen
27	chr16:48571000-48575000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr16:48571000-48575800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr16:48571000-48580600	Weak transcription	NHDF-Ad	bronchial
30	chr16:48571200-48574800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr16:48571200-48575000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr16:48571200-48575000	Strong transcription	Fetal Intestine Small	intestine
33	chr16:48571200-48576200	Weak transcription	Fetal Kidney	kidney
34	chr16:48571200-48576800	Weak transcription	Small Intestine	intestine
35	chr16:48571200-48586000	Weak transcription	NH-A	brain
36	chr16:48571200-48586800	Weak transcription	HUVEC	blood vessel
37	chr16:48571400-48576800	Weak transcription	Primary B cells from cord blood	blood
38	chr16:48571400-48576800	Weak transcription	Aorta	Aorta
39	chr16:48571600-48573000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr16:48571600-48573400	Weak transcription	Duodenum Mucosa	Duodenum
41	chr16:48571600-48573600	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr16:48571600-48574400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr16:48571600-48574400	Weak transcription	NHLF	lung
44	chr16:48571600-48574600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr16:48571600-48574600	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr16:48571600-48574600	Weak transcription	Osteobl	bone
47	chr16:48571600-48574800	Weak transcription	Primary B cells from peripheral blood	blood
48	chr16:48571600-48574800	Weak transcription	Dnd41	blood
49	chr16:48571600-48575800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr16:48571600-48576800	Weak transcription	Primary hematopoietic stem cells	blood

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