Variant report

Variant	rs527354347
Chromosome Location	chr16:81579847-81579848
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:81481928..81485099-chr16:81576354..81580756,4	K562	blood:
2	chr16:81578943..81580979-chr16:81604433..81607387,2	K562	blood:
3	chr16:81578640..81580177-chr16:81596522..81598545,2	MCF-7	breast:
4	chr16:81576372..81580731-chr16:81581610..81586279,4	MCF-7	breast:
5	chr16:81478553..81481266-chr16:81577586..81580261,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000153815	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532569	chr16:80980356-81700149	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv1058519	chr16:81177767-81735333	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	nsv948448	chr16:81198147-81906766	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases
4	nsv1057791	chr16:81515036-81644651	Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
5	nsv542993	chr16:81515036-81644651	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1062659	chr16:81547280-81668786	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
7	esv2754804	chr16:81579729-81606569	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81556000-81590000	Weak transcription	Dnd41	blood
2	chr16:81560600-81584800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr16:81565200-81588200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr16:81566600-81584600	Weak transcription	Fetal Brain Female	brain
5	chr16:81568000-81582000	Genic enhancers	A549	lung
6	chr16:81570800-81594200	Weak transcription	Hela-S3	cervix
7	chr16:81573200-81580200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr16:81573600-81594800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr16:81573800-81586400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr16:81575000-81587600	Enhancers	Lung	lung
11	chr16:81576000-81580000	Enhancers	Liver	Liver
12	chr16:81576200-81580000	Enhancers	Esophagus	oesophagus
13	chr16:81576400-81580200	Enhancers	Primary T cells fromperipheralblood	blood
14	chr16:81576400-81583000	Enhancers	Primary hematopoietic stem cells	blood
15	chr16:81576600-81580000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr16:81576600-81580000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
17	chr16:81576800-81582200	Enhancers	Brain Cingulate Gyrus	brain
18	chr16:81576800-81583000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr16:81577000-81583600	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr16:81577400-81583600	Weak transcription	K562	blood
21	chr16:81577400-81591600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr16:81577600-81581600	Enhancers	Fetal Thymus	thymus
23	chr16:81577600-81593200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr16:81577800-81580800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr16:81577800-81582400	Weak transcription	Fetal Kidney	kidney
26	chr16:81578000-81580000	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr16:81578000-81580400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr16:81578000-81581800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr16:81578200-81580200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr16:81578200-81580800	Enhancers	Brain Anterior Caudate	brain
31	chr16:81578200-81581200	Weak transcription	Fetal Muscle Leg	muscle
32	chr16:81578200-81581800	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr16:81578200-81584000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr16:81578400-81580000	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr16:81578400-81580600	Weak transcription	Left Ventricle	heart
36	chr16:81578400-81581000	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr16:81578400-81581200	Weak transcription	Fetal Heart	heart
38	chr16:81578400-81581400	Enhancers	Primary neutrophils fromperipheralblood	blood
39	chr16:81578400-81583600	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr16:81578600-81580400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr16:81578600-81580800	Genic enhancers	HepG2	liver
42	chr16:81578600-81581000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr16:81578600-81583400	Weak transcription	Fetal Brain Male	brain
44	chr16:81578600-81583800	Weak transcription	HUVEC	blood vessel
45	chr16:81578800-81580000	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr16:81578800-81580000	Weak transcription	Fetal Muscle Trunk	muscle
47	chr16:81578800-81580000	Weak transcription	Right Ventricle	heart
48	chr16:81578800-81580600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr16:81578800-81580600	Strong transcription	Fetal Stomach	stomach
50	chr16:81578800-81580600	Weak transcription	Pancreas	Pancrea

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