Variant report

Variant	rs540396353
Chromosome Location	chr16:30760059-30760060
allele	C/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	POLR2A	chr16:30759244-30760113	HepG2	liver:	n/a	n/a
2	MAX	chr16:30759959-30760187	K562	blood:	n/a	chr16:30760000-30760010 chr16:30760060-30760069
3	YY1	chr16:30760010-30760160	K562	blood:	n/a	chr16:30760041-30760055
4	CREB1	chr16:30759303-30760367	K562	blood:	n/a	n/a
5	POLR2A	chr16:30758916-30760307	K562	blood:	n/a	n/a
6	POLR2A	chr16:30759993-30760309	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr16:30759206-30760320	H1-neurons	neurons:	n/a	n/a
8	YY1	chr16:30759998-30760227	K562	blood:	n/a	chr16:30760041-30760055
9	CREB1	chr16:30759340-30760362	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr16:30759053-30760149	GM12878	blood:	n/a	n/a
11	POLR2A	chr16:30759998-30760245	ECC-1	luminal epithelium:	n/a	n/a
12	TAF1	chr16:30760035-30760332	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr16:30760008-30760275	A549	lung:	n/a	n/a
14	POLR2A	chr16:30758682-30760462	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr16:30759985-30760310	GM12878	blood:	n/a	n/a
16	POLR2A	chr16:30758860-30760292	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr16:30760006-30760294	SK-N-SH	brain:	n/a	n/a
18	POLR2A	chr16:30759231-30760223	GM15510	blood:	n/a	n/a
19	HCFC1	chr16:30757963-30760324	Hela-S3	cervix:	n/a	n/a
20	ZEB1	chr16:30760056-30760315	GM12878	blood:	n/a	n/a
21	MAZ	chr16:30759379-30760291	Hela-S3	cervix:	n/a	chr16:30759488-30759497 chr16:30759487-30759498 chr16:30760000-30760010 chr16:30759897-30759907 chr16:30760060-30760069
22	MAZ	chr16:30759276-30760236	K562	blood:	n/a	chr16:30759488-30759497 chr16:30759487-30759498 chr16:30760000-30760010 chr16:30759897-30759907 chr16:30760060-30760069
23	CREB1	chr16:30760028-30760269	A549	lung:	n/a	n/a
24	POLR2A	chr16:30758968-30760348	Hela-S3	cervix:	n/a	n/a
25	ZBTB7A	chr16:30759512-30760165	K562	blood:	n/a	chr16:30759889-30759896
26	POLR2A	chr16:30760000-30760216	H1-hESC	embryonic stem cell:	n/a	n/a
27	CREB1	chr16:30759990-30760355	H1-hESC	embryonic stem cell:	n/a	n/a
28	EGR1	chr16:30760027-30760272	K562	blood:	n/a	n/a
29	POLR2A	chr16:30758964-30760197	PFSK-1	brain:	n/a	n/a
30	POLR2A	chr16:30759164-30760128	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr16:30758439-30760365	U87	brain:	n/a	n/a
32	MAX	chr16:30759990-30760278	K562	blood:	n/a	chr16:30760000-30760010 chr16:30760060-30760069
33	POLR2A	chr16:30758694-30760143	GM12892	blood:	n/a	n/a
34	POLR2A	chr16:30758857-30760134	HUVEC	blood vessel:	n/a	n/a
35	POLR2A	chr16:30758730-30760237	Hela-S3	cervix:	n/a	n/a
36	MAZ	chr16:30759303-30760209	HepG2	liver:	n/a	chr16:30759488-30759497 chr16:30759487-30759498 chr16:30760000-30760010 chr16:30759897-30759907 chr16:30760060-30760069
37	MXI1	chr16:30759229-30760222	HepG2	liver:	n/a	n/a
38	SIN3AK20	chr16:30759022-30760464	MCF-7	breast:	n/a	n/a
39	POLR2A	chr16:30758715-30760531	K562	blood:	n/a	n/a
40	POLR2A	chr16:30759984-30760227	H1-hESC	embryonic stem cell:	n/a	n/a
41	EGR1	chr16:30760005-30760206	K562	blood:	n/a	n/a
42	REST	chr16:30759075-30760254	H1-neurons	neurons:	n/a	chr16:30759503-30759516 chr16:30760030-30760048
43	ELF1	chr16:30760007-30760330	GM12878	blood:	n/a	n/a
44	POLR2A	chr16:30759220-30760297	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr16:30758872-30761046	HepG2	liver:	n/a	n/a
46	POLR2A	chr16:30758744-30760168	MCF-7	breast:	n/a	n/a
47	POLR2A	chr16:30759119-30760331	H1-neurons	neurons:	n/a	n/a
48	POLR2A	chr16:30758650-30760133	SK-N-MC	brain:	n/a	n/a
49	POLR2A	chr16:30758959-30760264	ProgFib	skin:	n/a	n/a
50	POLR2A	chr16:30759148-30760175	MCF-7	breast:	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
ENSG00000260852	Chromatin interaction
ENSG00000262721	Chromatin interaction
ENSG00000156860	Chromatin interaction
ENSG00000260899	Chromatin interaction
ENSG00000102870	Chromatin interaction
ENSG00000099364	Chromatin interaction
ENSG00000261487	Chromatin interaction
ENSG00000175938	Chromatin interaction
ENSG00000079739	Chromatin interaction
ENSG00000150281	Chromatin interaction
ENSG00000099385	Chromatin interaction
ENSG00000261840	Chromatin interaction
ENSG00000080603	Chromatin interaction
ENSG00000142856	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	chr16:30759000-30760200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
7	chr16:30759000-30760200	Active TSS	Cortex derived primary cultured neurospheres	brain
8	chr16:30759000-30760200	Active TSS	Aorta	Aorta
9	chr16:30759000-30760400	Active TSS	Fetal Heart	heart
10	chr16:30759000-30760400	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr16:30759000-30760400	Active TSS	Left Ventricle	heart
12	chr16:30759000-30760600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr16:30759000-30760600	Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr16:30759000-30761000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr16:30759000-30761000	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr16:30759000-30761000	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr16:30759000-30761200	Active TSS	H9 Cell Line	embryonic stem cell
18	chr16:30759000-30761200	Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr16:30759200-30760400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr16:30759200-30760400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr16:30759200-30760400	Active TSS	Primary B cells from peripheral blood	blood
22	chr16:30759200-30760400	Active TSS	Brain Angular Gyrus	brain
23	chr16:30759200-30760400	Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr16:30759200-30760400	Active TSS	Gastric	stomach
25	chr16:30759200-30760400	Active TSS	Lung	lung
26	chr16:30759200-30760400	Active TSS	Sigmoid Colon	Sigmoid Colon
27	chr16:30759200-30760400	Active TSS	Small Intestine	intestine
28	chr16:30759200-30760400	Active TSS	Thymus	Thymus
29	chr16:30759200-30760600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr16:30759200-30760600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr16:30759200-30760600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr16:30759200-30760600	Active TSS	Fetal Intestine Large	intestine
33	chr16:30759200-30760600	Active TSS	Fetal Stomach	stomach
34	chr16:30759200-30760600	Active TSS	Ovary	ovary
35	chr16:30759200-30760600	Active TSS	Psoas Muscle	Psoas
36	chr16:30759200-30760600	Active TSS	A549	lung
37	chr16:30759200-30760800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr16:30759200-30760800	Active TSS	Brain Germinal Matrix	brain
39	chr16:30759200-30760800	Active TSS	Fetal Kidney	kidney
40	chr16:30759200-30761000	Active TSS	iPS-20b Cell Line	embryonic stem cell
41	chr16:30759200-30761000	Active TSS	Stomach Smooth Muscle	stomach
42	chr16:30759200-30761200	Active TSS	HUES48 Cell Line	embryonic stem cell
43	chr16:30759200-30761200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr16:30759200-30761400	Active TSS	H1 Cell Line	embryonic stem cell
45	chr16:30759400-30760200	Active TSS	Primary T cells from cord blood	blood
46	chr16:30759400-30760200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
47	chr16:30759400-30760200	Active TSS	Primary T helper naive cells from peripheral blood	blood
48	chr16:30759400-30760200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
49	chr16:30759400-30760200	Active TSS	Primary T killer memory cells from peripheral blood	blood
50	chr16:30759400-30760200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links