Variant report

Variant	rs116127924
Chromosome Location	chr16:70472569-70472570
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:70469678..70473680-chr16:70486697..70489592,5	K562	blood:
2	chr16:70470847..70473025-chr16:70556099..70558287,2	K562	blood:
3	chr16:70472362..70474949-chr16:70478691..70481186,3	K562	blood:
4	chr16:70455763..70457596-chr16:70471554..70474518,2	K562	blood:
5	chr16:70425305..70429574-chr16:70469861..70473545,6	K562	blood:
6	chr16:70472361..70474333-chr16:70486789..70489619,2	MCF-7	breast:
7	chr16:70470745..70475630-chr16:70476191..70481668,5	MCF-7	breast:
8	chr16:70471134..70474092-chr16:70555921..70560516,5	K562	blood:
9	chr16:70455430..70458238-chr16:70472208..70474351,2	MCF-7	breast:
10	chr16:70379526..70383319-chr16:70470652..70474068,4	K562	blood:
11	chr16:70470174..70475385-chr16:70486021..70489021,8	K562	blood:
12	chr16:70427347..70429652-chr16:70469861..70473258,4	K562	blood:
13	chr16:70471110..70472642-chr16:70476908..70478527,2	K562	blood:
14	chr16:70470349..70472713-chr17:58712894..58714465,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000189091	Chromatin interaction
ENSG00000240043	Chromatin interaction
ENSG00000200153	Chromatin interaction
ENSG00000103051	Chromatin interaction
ENSG00000157350	Chromatin interaction
ENSG00000261777	Chromatin interaction
ENSG00000157353	Chromatin interaction
ENSG00000168872	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	nsv482577	chr16:70329048-70516069	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
2	nsv833272	chr16:70369769-70569723	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
3	esv1815154	chr16:70467819-70515355	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	esv3446155	chr16:70471476-70474424	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv3415918	chr16:70471751-70474174	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:70470600-70472600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
2	chr16:70470600-70472600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
3	chr16:70470800-70472600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
4	chr16:70470800-70472600	Flanking Active TSS	Primary B cells from cord blood	blood
5	chr16:70470800-70472600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr16:70470800-70472600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
7	chr16:70470800-70472600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr16:70470800-70472600	Flanking Active TSS	Brain Germinal Matrix	brain
9	chr16:70470800-70472600	Flanking Active TSS	Fetal Muscle Trunk	muscle
10	chr16:70470800-70472600	Flanking Active TSS	Stomach Smooth Muscle	stomach
11	chr16:70470800-70472600	Flanking Active TSS	Dnd41	blood
12	chr16:70471000-70472600	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr16:70471000-70472600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
14	chr16:70471000-70472600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr16:70471000-70472600	Flanking Active TSS	Adipose Nuclei	Adipose
16	chr16:70471000-70472600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
17	chr16:70471000-70472600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr16:70471000-70473800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr16:70471000-70473800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr16:70471000-70473800	Active TSS	Fetal Kidney	kidney
21	chr16:70471200-70472600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
22	chr16:70471200-70472600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
23	chr16:70471200-70472600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr16:70471200-70472600	Flanking Active TSS	Fetal Thymus	thymus
25	chr16:70471400-70472600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr16:70471400-70472600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
27	chr16:70471400-70472600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
28	chr16:70471400-70472800	Flanking Active TSS	Primary hematopoietic stem cells	blood
29	chr16:70471400-70473400	Active TSS	GM12878-XiMat	blood
30	chr16:70471400-70473800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr16:70471600-70472600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr16:70471600-70472600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
33	chr16:70471600-70472600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
34	chr16:70471600-70472600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
35	chr16:70471600-70472600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
36	chr16:70471600-70472600	Flanking Active TSS	Liver	Liver
37	chr16:70471600-70472600	Flanking Active TSS	Placenta	Placenta
38	chr16:70471600-70473400	Active TSS	Fetal Lung	lung
39	chr16:70471600-70473400	Active TSS	K562	blood
40	chr16:70471600-70473800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr16:70471600-70473800	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr16:70471800-70473400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr16:70471800-70473400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr16:70471800-70473600	Active TSS	Duodenum Smooth Muscle	Duodenum
45	chr16:70471800-70473600	Active TSS	Fetal Intestine Small	intestine
46	chr16:70471800-70473800	Active TSS	iPS-20b Cell Line	embryonic stem cell
47	chr16:70471800-70473800	Active TSS	Ovary	ovary
48	chr16:70471800-70473800	Active TSS	NHDF-Ad	bronchial
49	chr16:70472000-70472600	Flanking Active TSS	Placenta Amnion	Placenta Amnion
50	chr16:70472000-70473400	Active TSS	Fetal Stomach	stomach

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