Variant report

Variant	rs9926855
Chromosome Location	chr16:30760731-30760732
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:30758872-30761046	HepG2	liver:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:30758359..30761183-chr16:30932981..30935164,3	MCF-7	breast:
2	chr16:30670863..30673913-chr16:30759873..30762559,3	MCF-7	breast:
3	chr16:30707181..30712037-chr16:30757231..30762842,12	MCF-7	breast:
4	chr16:30708929..30712034-chr16:30758251..30761730,4	K562	blood:
5	chr16:30667897..30670733-chr16:30759554..30761748,2	K562	blood:
6	chr16:30669453..30671146-chr16:30759344..30760999,2	MCF-7	breast:
7	chr16:30709802..30712559-chr16:30757474..30761628,7	MCF-7	breast:
8	chr16:30759480..30761817-chr16:30958726..30961352,2	MCF-7	breast:
9	chr16:30749452..30756439-chr16:30756844..30761929,14	K562	blood:
10	chr16:30759018..30761215-chr16:30796843..30799156,2	MCF-7	breast:
11	chr16:30759065..30761528-chr16:30906450..30908466,3	MCF-7	breast:
12	chr16:30669439..30671139-chr16:30758137..30761003,2	K562	blood:
13	chr16:30708001..30712248-chr16:30758568..30761366,5	K562	blood:

No data

Variant related genes	Relation type
PHKG2	TF binding region
ENSG00000102870	Chromatin interaction
ENSG00000260852	Chromatin interaction
ENSG00000261487	Chromatin interaction
ENSG00000156860	Chromatin interaction
ENSG00000261840	Chromatin interaction
ENSG00000099364	Chromatin interaction
ENSG00000150281	Chromatin interaction
ENSG00000260899	Chromatin interaction
ENSG00000175938	Chromatin interaction
ENSG00000080603	Chromatin interaction
ENSG00000262721	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12596394	0.83[AFR][1000 genomes]
rs12598056	0.81[AFR][1000 genomes]
rs12931844	0.81[AFR][1000 genomes]
rs1550477	0.91[AFR][1000 genomes]
rs2053426	0.81[AFR][1000 genomes]
rs2099754	0.81[AFR][1000 genomes]
rs2099755	0.81[AFR][1000 genomes]
rs4617878	0.85[AFR][1000 genomes]
rs4889504	0.91[AFR][1000 genomes]
rs4889507	0.80[AFR][1000 genomes]
rs7188077	0.91[AFR][1000 genomes]
rs7193412	0.91[AFR][1000 genomes]
rs8056105	0.88[AFR][1000 genomes]
rs893926	0.83[AFR][1000 genomes]
rs893927	0.85[AFR][1000 genomes]
rs9921630	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv469724	chr16:30632445-30840263	Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
4	nsv482704	chr16:30632445-30840263	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
5	nsv833188	chr16:30632446-30840263	Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
6	nsv1064134	chr16:30640293-31087327	Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	238 gene(s)	inside rSNPs	diseases
7	nsv905728	chr16:30642867-30928970	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	171 gene(s)	inside rSNPs	diseases
8	nsv905729	chr16:30642867-31247924	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases
9	esv1825223	chr16:30669091-30971810	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
10	nsv431451	chr16:30682399-31340999	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
11	esv3391943	chr16:30758851-30761899	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	17 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	chr16:30758800-30760800	Active TSS	Rectal Smooth Muscle	rectum
2	chr16:30759000-30761000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr16:30759000-30761000	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr16:30759000-30761000	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr16:30759000-30761200	Active TSS	H9 Cell Line	embryonic stem cell
6	chr16:30759000-30761200	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr16:30759200-30760800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr16:30759200-30760800	Active TSS	Brain Germinal Matrix	brain
9	chr16:30759200-30760800	Active TSS	Fetal Kidney	kidney
10	chr16:30759200-30761000	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr16:30759200-30761000	Active TSS	Stomach Smooth Muscle	stomach
12	chr16:30759200-30761200	Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr16:30759200-30761200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr16:30759200-30761400	Active TSS	H1 Cell Line	embryonic stem cell
15	chr16:30759400-30760800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr16:30759400-30760800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
17	chr16:30759400-30760800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr16:30759400-30760800	Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr16:30759400-30760800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr16:30759400-30760800	Active TSS	Brain Anterior Caudate	brain
21	chr16:30759400-30760800	Active TSS	Colonic Mucosa	Colon
22	chr16:30759400-30760800	Active TSS	Fetal Lung	lung
23	chr16:30759400-30760800	Active TSS	GM12878-XiMat	blood
24	chr16:30759400-30760800	Active TSS	Hela-S3	cervix
25	chr16:30759400-30760800	Active TSS	HepG2	liver
26	chr16:30759400-30760800	Active TSS	HSMM	muscle
27	chr16:30759400-30760800	Active TSS	NH-A	brain
28	chr16:30759400-30761000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr16:30759400-30761000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr16:30759400-30761000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr16:30759400-30761000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr16:30759400-30761000	Active TSS	Brain Cingulate Gyrus	brain
33	chr16:30759400-30761000	Active TSS	NHLF	lung
34	chr16:30759400-30761200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr16:30759400-30761200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr16:30759400-30761200	Active TSS	Primary hematopoietic stem cells	blood
37	chr16:30759400-30761200	Active TSS	Rectal Mucosa Donor 31	rectum
38	chr16:30759400-30761200	Active TSS	HMEC	breast
39	chr16:30759600-30760800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr16:30759600-30761600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr16:30760000-30760800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr16:30760000-30761000	Enhancers	Fetal Brain Male	brain
43	chr16:30760000-30761200	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr16:30760000-30772400	Weak transcription	Stomach Mucosa	stomach
45	chr16:30760200-30761000	Weak transcription	Primary T cells from cord blood	blood
46	chr16:30760200-30761000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr16:30760200-30763800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr16:30760200-30764600	Weak transcription	Aorta	Aorta
49	chr16:30760200-30772200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr16:30760400-30760800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood

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