Variant report

Variant	rs530361640
Chromosome Location	chr16:72319264-72319265
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:72316333..72319342-chr16:72319918..72322341,3	K562	blood:
2	chr16:72319110..72320804-chr16:72323205..72325965,2	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948468	chr16:71727571-72651914	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
2	nsv1060983	chr16:72074832-72791629	Genic enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
3	nsv1060804	chr16:72078486-72791629	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
4	nsv1059599	chr16:72219769-72342170	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv1066473	chr16:72229094-72373598	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv906897	chr16:72283147-72326375	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv534039	chr16:72287171-72851170	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
8	esv21113	chr16:72318729-72320874	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
9	esv1823053	chr16:72318825-72320505	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
10	esv16621	chr16:72318979-72319969	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:72302600-72332000	Weak transcription	Primary B cells from cord blood	blood
2	chr16:72313400-72323000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr16:72315600-72353600	Weak transcription	Dnd41	blood
4	chr16:72315800-72320600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr16:72316000-72319600	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr16:72316000-72323400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr16:72316600-72334800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr16:72317400-72331800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr16:72318000-72319600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr16:72318200-72319800	Enhancers	H1 Cell Line	embryonic stem cell
11	chr16:72318200-72320000	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr16:72318200-72320000	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr16:72318200-72320000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr16:72318200-72320200	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr16:72318200-72324200	Enhancers	HMEC	breast
16	chr16:72318400-72319400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr16:72318400-72319600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr16:72318400-72320000	Enhancers	H9 Cell Line	embryonic stem cell
19	chr16:72318400-72320000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr16:72318600-72320000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
21	chr16:72318600-72324800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr16:72318600-72329200	Weak transcription	HepG2	liver
23	chr16:72318800-72319400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr16:72318800-72319600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr16:72318800-72320000	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr16:72318800-72320600	Weak transcription	Thymus	Thymus
27	chr16:72318800-72323600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr16:72319000-72319800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr16:72319000-72319800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr16:72319000-72320000	Weak transcription	NHEK	skin
31	chr16:72319000-72320200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr16:72319000-72320600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr16:72319200-72319600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr16:72319200-72320000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr16:72319200-72321000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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