Variant report

Variant	rs545856509
Chromosome Location	chr16:30760238-30760239
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CREB1	chr16:30759303-30760367	K562	blood:	n/a	n/a
2	POLR2A	chr16:30758916-30760307	K562	blood:	n/a	n/a
3	POLR2A	chr16:30759993-30760309	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr16:30759206-30760320	H1-neurons	neurons:	n/a	n/a
5	CREB1	chr16:30759340-30760362	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr16:30759998-30760245	ECC-1	luminal epithelium:	n/a	n/a
7	TAF1	chr16:30760035-30760332	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr16:30760008-30760275	A549	lung:	n/a	n/a
9	POLR2A	chr16:30758682-30760462	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr16:30759985-30760310	GM12878	blood:	n/a	n/a
11	POLR2A	chr16:30758860-30760292	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr16:30760006-30760294	SK-N-SH	brain:	n/a	n/a
13	HCFC1	chr16:30757963-30760324	Hela-S3	cervix:	n/a	n/a
14	ZEB1	chr16:30760056-30760315	GM12878	blood:	n/a	n/a
15	MAZ	chr16:30759379-30760291	Hela-S3	cervix:	n/a	chr16:30759488-30759497 chr16:30759487-30759498 chr16:30760000-30760010 chr16:30759897-30759907 chr16:30760060-30760069
16	CREB1	chr16:30760028-30760269	A549	lung:	n/a	n/a
17	POLR2A	chr16:30758968-30760348	Hela-S3	cervix:	n/a	n/a
18	CREB1	chr16:30759990-30760355	H1-hESC	embryonic stem cell:	n/a	n/a
19	EGR1	chr16:30760027-30760272	K562	blood:	n/a	n/a
20	POLR2A	chr16:30758439-30760365	U87	brain:	n/a	n/a
21	MAX	chr16:30759990-30760278	K562	blood:	n/a	chr16:30760000-30760010 chr16:30760060-30760069
22	SIN3AK20	chr16:30759022-30760464	MCF-7	breast:	n/a	n/a
23	POLR2A	chr16:30758715-30760531	K562	blood:	n/a	n/a
24	REST	chr16:30759075-30760254	H1-neurons	neurons:	n/a	chr16:30759503-30759516 chr16:30760030-30760048
25	ELF1	chr16:30760007-30760330	GM12878	blood:	n/a	n/a
26	POLR2A	chr16:30759220-30760297	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr16:30758872-30761046	HepG2	liver:	n/a	n/a
28	POLR2A	chr16:30759119-30760331	H1-neurons	neurons:	n/a	n/a
29	POLR2A	chr16:30758959-30760264	ProgFib	skin:	n/a	n/a
30	POLR2A	chr16:30760187-30760286	HUVEC	blood vessel:	n/a	n/a
31	POLR2A	chr16:30759073-30760263	A549	lung:	n/a	n/a
32	MAZ	chr16:30759000-30760483	IMR90	lung:	n/a	chr16:30759488-30759497 chr16:30759487-30759498 chr16:30760000-30760010 chr16:30759897-30759907 chr16:30760060-30760069
33	POLR2A	chr16:30759173-30760291	Gliobla	brain:	n/a	n/a
34	POLR2A	chr16:30758436-30760371	U87	brain:	n/a	n/a
35	MXI1	chr16:30758621-30760346	IMR90	lung:	n/a	n/a
36	NRF1	chr16:30759266-30760272	SK-N-SH	brain:	n/a	chr16:30759857-30759871 chr16:30759854-30759868 chr16:30759857-30759868 chr16:30759859-30759868
37	STAT3	chr16:30760167-30760252	MCF10A-Er-Src	breast:	n/a	chr16:30760199-30760210
38	POLR2A	chr16:30759093-30760294	MCF-7	breast:	n/a	n/a
39	MXI1	chr16:30758011-30760422	SK-N-SH	brain:	n/a	n/a
40	SIN3A	chr16:30759217-30760280	H1-hESC	embryonic stem cell:	n/a	chr16:30759487-30759496
41	STAT3	chr16:30760118-30760288	MCF10A-Er-Src	breast:	n/a	chr16:30760199-30760210
42	UBTF	chr16:30760108-30760263	K562	blood:	n/a	n/a

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	chr1:64059379..64059995-chr16:30759447..30760265,2	Hela-S3	cervix:
11	chr16:30759018..30761215-chr16:30796843..30799156,2	MCF-7	breast:
12	chr16:30759065..30761528-chr16:30906450..30908466,3	MCF-7	breast:
13	chr16:30669439..30671139-chr16:30758137..30761003,2	K562	blood:
14	chr16:30708001..30712248-chr16:30758568..30761366,5	K562	blood:
15	chr16:30758787..30760683-chr16:30905572..30907460,2	MCF-7	breast:

Variant related genes	Relation type
PHKG2	TF binding region
ENSG00000099385	Chromatin interaction
ENSG00000261487	Chromatin interaction
ENSG00000262721	Chromatin interaction
ENSG00000260899	Chromatin interaction
ENSG00000099364	Chromatin interaction
ENSG00000142856	Chromatin interaction
ENSG00000079739	Chromatin interaction
ENSG00000102870	Chromatin interaction
ENSG00000175938	Chromatin interaction
ENSG00000261840	Chromatin interaction
ENSG00000080603	Chromatin interaction
ENSG00000150281	Chromatin interaction
ENSG00000260852	Chromatin interaction
ENSG00000156860	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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	chr16:30758800-30760400	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr16:30758800-30760600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr16:30758800-30760600	Active TSS	Brain Substantia Nigra	brain
4	chr16:30758800-30760600	Active TSS	Fetal Brain Female	brain
5	chr16:30758800-30760800	Active TSS	Rectal Smooth Muscle	rectum
6	chr16:30759000-30760400	Active TSS	Fetal Heart	heart
7	chr16:30759000-30760400	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr16:30759000-30760400	Active TSS	Left Ventricle	heart
9	chr16:30759000-30760600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr16:30759000-30760600	Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr16:30759000-30761000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr16:30759000-30761000	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr16:30759000-30761000	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr16:30759000-30761200	Active TSS	H9 Cell Line	embryonic stem cell
15	chr16:30759000-30761200	Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr16:30759200-30760400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr16:30759200-30760400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr16:30759200-30760400	Active TSS	Primary B cells from peripheral blood	blood
19	chr16:30759200-30760400	Active TSS	Brain Angular Gyrus	brain
20	chr16:30759200-30760400	Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr16:30759200-30760400	Active TSS	Gastric	stomach
22	chr16:30759200-30760400	Active TSS	Lung	lung
23	chr16:30759200-30760400	Active TSS	Sigmoid Colon	Sigmoid Colon
24	chr16:30759200-30760400	Active TSS	Small Intestine	intestine
25	chr16:30759200-30760400	Active TSS	Thymus	Thymus
26	chr16:30759200-30760600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr16:30759200-30760600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr16:30759200-30760600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr16:30759200-30760600	Active TSS	Fetal Intestine Large	intestine
30	chr16:30759200-30760600	Active TSS	Fetal Stomach	stomach
31	chr16:30759200-30760600	Active TSS	Ovary	ovary
32	chr16:30759200-30760600	Active TSS	Psoas Muscle	Psoas
33	chr16:30759200-30760600	Active TSS	A549	lung
34	chr16:30759200-30760800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr16:30759200-30760800	Active TSS	Brain Germinal Matrix	brain
36	chr16:30759200-30760800	Active TSS	Fetal Kidney	kidney
37	chr16:30759200-30761000	Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr16:30759200-30761000	Active TSS	Stomach Smooth Muscle	stomach
39	chr16:30759200-30761200	Active TSS	HUES48 Cell Line	embryonic stem cell
40	chr16:30759200-30761200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr16:30759200-30761400	Active TSS	H1 Cell Line	embryonic stem cell
42	chr16:30759400-30760400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr16:30759400-30760400	Active TSS	Primary monocytes fromperipheralblood	blood
44	chr16:30759400-30760400	Active TSS	Primary neutrophils fromperipheralblood	blood
45	chr16:30759400-30760400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
46	chr16:30759400-30760400	Active TSS	Primary T helper cells fromperipheralblood	blood
47	chr16:30759400-30760400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
48	chr16:30759400-30760400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr16:30759400-30760400	Active TSS	Liver	Liver
50	chr16:30759400-30760400	Active TSS	Brain Hippocampus Middle	brain

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