Variant report

Variant	rs2927299
Chromosome Location	chr16:81503403-81503404
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:81502365..81504791-chr16:81811321..81813304,2	K562	blood:

Variant related genes	Relation type
ENSG00000197943	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1563654	0.81[JPT][hapmap]
rs1966957	0.81[JPT][hapmap]
rs898962	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.91[TSI][hapmap];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9926618	0.88[CEU][hapmap];0.88[CHD][hapmap];0.86[GIH][hapmap];0.92[JPT][hapmap];0.91[TSI][hapmap];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	esv34108	chr16:81469090-81510471	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
5	nsv907010	chr16:81488893-81534790	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
6	esv3401957	chr16:81502651-81507149	Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region	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	chr16:81482000-81507000	Weak transcription	Fetal Heart	heart
2	chr16:81485600-81516800	Weak transcription	Hela-S3	cervix
3	chr16:81486600-81525200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr16:81487000-81504400	Weak transcription	Fetal Brain Male	brain
5	chr16:81487000-81507200	Weak transcription	Colon Smooth Muscle	Colon
6	chr16:81490600-81509800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr16:81492200-81504400	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr16:81492200-81504400	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr16:81492200-81512200	Genic enhancers	A549	lung
10	chr16:81492600-81506200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr16:81492800-81504600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr16:81493000-81504400	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr16:81496800-81506200	Weak transcription	NHLF	lung
14	chr16:81496800-81514400	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr16:81497600-81504000	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr16:81497600-81514600	Weak transcription	HSMM	muscle
17	chr16:81497800-81503600	Enhancers	Pancreas	Pancrea
18	chr16:81498000-81506600	Weak transcription	Ovary	ovary
19	chr16:81498800-81504400	Enhancers	Brain Angular Gyrus	brain
20	chr16:81498800-81504400	Enhancers	Duodenum Mucosa	Duodenum
21	chr16:81499000-81503600	Enhancers	Primary T cells fromperipheralblood	blood
22	chr16:81499000-81504600	Enhancers	Spleen	Spleen
23	chr16:81499200-81504400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr16:81499200-81504600	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr16:81499600-81504000	Genic enhancers	HepG2	liver
26	chr16:81499800-81504000	Enhancers	Brain Anterior Caudate	brain
27	chr16:81499800-81504000	Enhancers	Small Intestine	intestine
28	chr16:81500000-81505000	Enhancers	Fetal Thymus	thymus
29	chr16:81500400-81506200	Weak transcription	NHDF-Ad	bronchial
30	chr16:81500400-81506800	Weak transcription	Osteobl	bone
31	chr16:81500600-81504400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr16:81500600-81504400	Enhancers	Primary hematopoietic stem cells	blood
33	chr16:81500600-81504400	Weak transcription	Fetal Lung	lung
34	chr16:81500600-81504600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr16:81500600-81504600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr16:81500600-81504600	Weak transcription	HMEC	breast
37	chr16:81500800-81504600	Weak transcription	Fetal Brain Female	brain
38	chr16:81500800-81506600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr16:81500800-81506600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr16:81501000-81503600	Enhancers	Primary B cells from peripheral blood	blood
41	chr16:81501000-81504600	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr16:81501000-81504600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr16:81501000-81506000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr16:81501000-81506400	Weak transcription	Right Ventricle	heart
45	chr16:81501000-81506600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr16:81501400-81506600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr16:81501600-81504200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr16:81501800-81504400	Enhancers	Fetal Muscle Trunk	muscle
49	chr16:81501800-81504600	Enhancers	Liver	Liver
50	chr16:81501800-81504600	Enhancers	Brain Hippocampus Middle	brain

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