Variant report

Variant	rs9888820
Chromosome Location	chr16:30561561-30561562
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:30554415..30557647-chr16:30560769..30563401,3	K562	blood:
2	chr16:30553150..30558345-chr16:30559380..30563401,5	K562	blood:
3	chr16:30455921..30458379-chr16:30559284..30562384,3	MCF-7	breast:
4	chr16:30560063..30566215-chr16:30567475..30571582,8	MCF-7	breast:
5	chr16:30554170..30556650-chr16:30561095..30563472,2	MCF-7	breast:
6	chr16:30540585..30543471-chr16:30559364..30562219,2	K562	blood:

Variant related genes	Relation type
ENSG00000179918	Chromatin interaction
ENSG00000260869	Chromatin interaction
ENSG00000169951	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs8056929	0.84[EUR][1000 genomes]

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	nsv532531	chr16:30370550-30581820	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	113 gene(s)	inside rSNPs	diseases
2	nsv1062456	chr16:30442166-31253997	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
3	nsv542898	chr16:30442166-31253997	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
4	esv3390311	chr16:30544451-30567432	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	n/a
5	esv3432040	chr16:30545881-30569546	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30547400-30564000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr16:30547400-30564200	Weak transcription	Small Intestine	intestine
3	chr16:30547600-30562400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr16:30547600-30562600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr16:30547600-30562600	Weak transcription	Placenta	Placenta
6	chr16:30547600-30564000	Weak transcription	Fetal Muscle Trunk	muscle
7	chr16:30547600-30564200	Weak transcription	Esophagus	oesophagus
8	chr16:30547600-30564400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr16:30547600-30564400	Weak transcription	Lung	lung
10	chr16:30547600-30564400	Weak transcription	Stomach Smooth Muscle	stomach
11	chr16:30547600-30564400	Weak transcription	Spleen	Spleen
12	chr16:30548000-30564600	Weak transcription	Primary B cells from cord blood	blood
13	chr16:30548200-30562600	Weak transcription	GM12878-XiMat	blood
14	chr16:30548600-30564200	Weak transcription	Primary B cells from peripheral blood	blood
15	chr16:30551200-30564200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr16:30551400-30562400	Weak transcription	Primary T cells from cord blood	blood
17	chr16:30551400-30562400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr16:30551400-30562400	Weak transcription	Fetal Thymus	thymus
19	chr16:30551400-30562600	Weak transcription	Dnd41	blood
20	chr16:30553000-30564200	Weak transcription	Right Atrium	heart
21	chr16:30553200-30564000	Weak transcription	Adipose Nuclei	Adipose
22	chr16:30553200-30565200	Weak transcription	Fetal Lung	lung
23	chr16:30553400-30568400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr16:30553600-30564800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr16:30553600-30565600	Weak transcription	Pancreas	Pancrea
26	chr16:30553600-30567400	Weak transcription	Hela-S3	cervix
27	chr16:30553800-30564400	Weak transcription	Ovary	ovary
28	chr16:30554000-30565200	Weak transcription	Colon Smooth Muscle	Colon
29	chr16:30554400-30564000	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr16:30555000-30568600	Weak transcription	Fetal Kidney	kidney
31	chr16:30555200-30562600	Weak transcription	Fetal Stomach	stomach
32	chr16:30556600-30565600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr16:30556800-30564200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr16:30556800-30568600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr16:30557800-30564200	Weak transcription	Primary hematopoietic stem cells	blood
36	chr16:30558000-30563200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr16:30558200-30564000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr16:30558400-30564200	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr16:30558800-30563200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr16:30558800-30564400	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr16:30559200-30562200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr16:30559400-30561800	Enhancers	Fetal Intestine Small	intestine
43	chr16:30559600-30561600	Enhancers	Fetal Heart	heart
44	chr16:30559600-30561800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr16:30560400-30564000	Weak transcription	Gastric	stomach
46	chr16:30560400-30564200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr16:30560400-30564600	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr16:30560400-30565200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr16:30560400-30565400	Weak transcription	Stomach Mucosa	stomach
50	chr16:30560400-30565800	Weak transcription	H9 Cell Line	embryonic stem cell

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