Variant report

Variant	rs566930196
Chromosome Location	chr16:30759721-30759722
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:343)
CpG islands
(count:122)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:343 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr16:30759069-30760006	ECC-1	luminal epithelium:	n/a	chr16:30759488-30759497 chr16:30759487-30759498 chr16:30759897-30759907
2	POLR2A	chr16:30759231-30759964	NB4	blood:	n/a	n/a
3	MYC	chr16:30759240-30759806	NB4	blood:	n/a	chr16:30759488-30759497 chr16:30759487-30759498
4	MAX	chr16:30759232-30759971	H1-hESC	embryonic stem cell:	n/a	chr16:30759488-30759497 chr16:30759487-30759498 chr16:30759897-30759907
5	PML	chr16:30759169-30759970	K562	blood:	n/a	n/a
6	POLR2A	chr16:30759244-30760113	HepG2	liver:	n/a	n/a
7	TCF12	chr16:30759602-30759887	GM12878	blood:	n/a	n/a
8	ELF1	chr16:30758936-30760014	HCT-116	colon:	n/a	chr16:30759504-30759516 chr16:30759458-30759469 chr16:30759459-30759468
9	POLR2A	chr16:30758671-30759951	HepG2	liver:	n/a	n/a
10	ELF1	chr16:30759073-30759866	MCF-7	breast:	n/a	chr16:30759504-30759516 chr16:30759458-30759469 chr16:30759459-30759468
11	RUNX3	chr16:30759178-30759866	GM12878	blood:	n/a	n/a
12	BRCA1	chr16:30759409-30759778	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr16:30759208-30759948	K562	blood:	n/a	n/a
14	USF1	chr16:30759205-30759881	ECC-1	luminal epithelium:	n/a	n/a
15	CREB1	chr16:30759303-30760367	K562	blood:	n/a	n/a
16	POLR2A	chr16:30758916-30760307	K562	blood:	n/a	n/a
17	MAX	chr16:30759247-30759811	K562	blood:	n/a	chr16:30759488-30759497 chr16:30759487-30759498
18	SIN3AK20	chr16:30759612-30759891	HepG2	liver:	n/a	n/a
19	SIN3AK20	chr16:30759115-30759895	SK-N-SH	brain:	n/a	n/a
20	REST	chr16:30759228-30759917	HepG2	liver:	n/a	chr16:30759503-30759516
21	ELF1	chr16:30758717-30759895	HepG2	liver:	n/a	chr16:30759504-30759516 chr16:30759458-30759469 chr16:30759459-30759468
22	POLR2A	chr16:30759216-30759972	HepG2	liver:	n/a	n/a
23	POLR2A	chr16:30759206-30760320	H1-neurons	neurons:	n/a	n/a
24	ARID3A	chr16:30759462-30759790	HepG2	liver:	n/a	n/a
25	MAX	chr16:30759303-30759790	HUVEC	blood vessel:	n/a	chr16:30759488-30759497 chr16:30759487-30759498
26	POLR2A	chr16:30759225-30759949	GM12878	blood:	n/a	n/a
27	HMGN3	chr16:30759378-30759827	K562	blood:	n/a	n/a
28	MYC	chr16:30759184-30759831	K562	blood:	n/a	chr16:30759488-30759497 chr16:30759487-30759498
29	POLR2A	chr16:30759206-30759961	K562	blood:	n/a	n/a
30	CREB1	chr16:30759340-30760362	H1-hESC	embryonic stem cell:	n/a	n/a
31	USF1	chr16:30759178-30759794	A549	lung:	n/a	n/a
32	POLR2A	chr16:30759217-30759980	Raji	blood:	n/a	n/a
33	TEAD4	chr16:30759098-30759729	HepG2	liver:	n/a	n/a
34	POLR2A	chr16:30759053-30760149	GM12878	blood:	n/a	n/a
35	USF1	chr16:30759257-30759722	GM12878	blood:	n/a	n/a
36	TAF1	chr16:30759188-30760008	K562	blood:	n/a	n/a
37	TAF1	chr16:30759136-30759915	GM12891	blood:	n/a	n/a
38	GABPA	chr16:30759101-30759825	K562	blood:	n/a	n/a
39	ELF1	chr16:30758878-30759773	A549	lung:	n/a	chr16:30759504-30759516 chr16:30759458-30759469 chr16:30759459-30759468
40	POLR2A	chr16:30759067-30759939	A549	lung:	n/a	n/a
41	HEY1	chr16:30759119-30759954	HepG2	liver:	n/a	n/a
42	USF1	chr16:30759161-30759766	A549	lung:	n/a	n/a
43	POLR2A	chr16:30758664-30759958	GM12892	blood:	n/a	n/a
44	NRF1	chr16:30759437-30759807	GM12878	blood:	n/a	n/a
45	USF1	chr16:30759070-30759958	HCT-116	colon:	n/a	n/a
46	TBP	chr16:30759235-30759911	HepG2	liver:	n/a	n/a
47	POLR2A	chr16:30759157-30759939	K562	blood:	n/a	n/a
48	POLR2A	chr16:30759120-30759916	HUVEC	blood vessel:	n/a	n/a
49	TAF1	chr16:30759195-30759874	K562	blood:	n/a	n/a
50	YY1	chr16:30759262-30759852	A549	lung:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:30759703-30759753	BJ	skin:	n/a
2	chr16:30759703-30759753	Jurkat	blood:	n/a
3	chr16:30759703-30759753	HNPCEpiC	eye:	n/a
4	chr16:30759703-30759753	HEEpiC	esophagus:	n/a
5	chr16:30759675-30759725	A549	lung:	n/a
6	chr16:30759675-30759725	H1-hESC	embryonic stem cell:	embryo
7	chr16:30759703-30759753	ProgFib	skin:	n/a
8	chr16:30759703-30759753	HPAEpiC	pulmonary alveolar:	n/a
9	chr16:30759675-30759725	SK-N-SH_RA	brain:	n/a
10	chr16:30759675-30759725	GM12891	blood:	n/a
11	chr16:30759675-30759725	MCF10A-Er-Src	breast:	n/a
12	chr16:30759703-30759753	PANC-1	pancreas:	n/a
13	chr16:30759703-30759753	SKMC	muscle:	n/a
14	chr16:30759675-30759725	RPTEC	kidney:	n/a
15	chr16:30759675-30759725	HIPEpiC	eye:	n/a
16	chr16:30759703-30759753	BE2_C	brain:	n/a
17	chr16:30759675-30759725	HAEpiC	amniotic membrane:	n/a
18	chr16:30759675-30759725	Hepatocyte	liver:	n/a
19	chr16:30759703-30759753	HAEpiC	amniotic membrane:	n/a
20	chr16:30759703-30759753	HUVEC	blood vessel:	n/a
21	chr16:30759703-30759753	A549	lung:	n/a
22	chr16:30759675-30759725	U87	brain:	n/a
23	chr16:30759675-30759725	HNPCEpiC	eye:	n/a
24	chr16:30759675-30759725	NHBE	bronchial:	n/a
25	chr16:30759703-30759753	HIPEpiC	eye:	n/a
26	chr16:30759703-30759753	HCM	heart:	n/a
27	chr16:30759675-30759725	HCF	heart:	n/a
28	chr16:30759675-30759725	AoSMC	blood vessel:	n/a
29	chr16:30759703-30759753	Hela-S3	cervix:	n/a
30	chr16:30759703-30759753	MCF-7	breast:	n/a
31	chr16:30759703-30759753	HRPEpiC	eye:	n/a
32	chr16:30759675-30759725	HMEC	breast:	n/a
33	chr16:30759675-30759725	CMK	blood:	n/a
34	chr16:30759675-30759725	AG10803	skin:	n/a
35	chr16:30759675-30759725	AG09309	skin:	n/a
36	chr16:30759675-30759725	GM06990	blood:	n/a
37	chr16:30759703-30759753	SK-N-SH_RA	brain:	n/a
38	chr16:30759703-30759753	MCF10A-Er-Src	breast:	n/a
39	chr16:30759675-30759725	MCF-7	breast:	n/a
40	chr16:30759703-30759753	Caco-2	colon:	n/a
41	chr16:30759703-30759753	NB4	blood:	n/a
42	chr16:30759675-30759725	PFSK-1	brain:	n/a
43	chr16:30759703-30759753	HEK293	kidney:	embryo
44	chr16:30759675-30759725	LNCaP	prostate:	n/a
45	chr16:30759675-30759725	GM12892	blood:	n/a
46	chr16:30759703-30759753	HepG2	liver:	n/a
47	chr16:30759675-30759725	K562	blood:	n/a
48	chr16:30759703-30759753	HCT-116	colon:	n/a
49	chr16:30759675-30759725	HL-60	blood:	n/a
50	chr16:30759675-30759725	GM12878	blood:	n/a

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:30758359..30761183-chr16:30932981..30935164,3	MCF-7	breast:
2	chr16:30757885..30759765-chr16:30885602..30888334,3	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	chr16:30757799..30759751-chr16:30933800..30935636,3	K562	blood:
13	chr16:30759065..30761528-chr16:30906450..30908466,3	MCF-7	breast:
14	chr16:30669439..30671139-chr16:30758137..30761003,2	K562	blood:
15	chr16:30708001..30712248-chr16:30758568..30761366,5	K562	blood:
16	chr16:30757630..30759751-chr16:30932681..30935536,3	K562	blood:
17	chr16:30758787..30760683-chr16:30905572..30907460,2	MCF-7	breast:

No data

Variant related genes	Relation type
PHKG2	TF binding region
PHKG2	CpG island
ENSG00000262721	Chromatin interaction
ENSG00000142856	Chromatin interaction
ENSG00000261840	Chromatin interaction
ENSG00000099364	Chromatin interaction
ENSG00000150281	Chromatin interaction
ENSG00000156860	Chromatin interaction
ENSG00000265991	Chromatin interaction
ENSG00000080603	Chromatin interaction
ENSG00000079739	Chromatin interaction
ENSG00000260852	Chromatin interaction
ENSG00000102870	Chromatin interaction
ENSG00000175938	Chromatin interaction
ENSG00000261487	Chromatin interaction
ENSG00000099385	Chromatin interaction
ENSG00000260899	Chromatin interaction
ENSG00000260083	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	chr16:30759000-30760000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
7	chr16:30759000-30760200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
8	chr16:30759000-30760200	Active TSS	Cortex derived primary cultured neurospheres	brain
9	chr16:30759000-30760200	Active TSS	Aorta	Aorta
10	chr16:30759000-30760400	Active TSS	Fetal Heart	heart
11	chr16:30759000-30760400	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr16:30759000-30760400	Active TSS	Left Ventricle	heart
13	chr16:30759000-30760600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr16:30759000-30760600	Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr16:30759000-30761000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr16:30759000-30761000	Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr16:30759000-30761000	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr16:30759000-30761200	Active TSS	H9 Cell Line	embryonic stem cell
19	chr16:30759000-30761200	Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr16:30759200-30760000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
21	chr16:30759200-30760000	Transcr. at gene 5' and 3'	Right Atrium	heart
22	chr16:30759200-30760400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr16:30759200-30760400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr16:30759200-30760400	Active TSS	Primary B cells from peripheral blood	blood
25	chr16:30759200-30760400	Active TSS	Brain Angular Gyrus	brain
26	chr16:30759200-30760400	Active TSS	Duodenum Smooth Muscle	Duodenum
27	chr16:30759200-30760400	Active TSS	Gastric	stomach
28	chr16:30759200-30760400	Active TSS	Lung	lung
29	chr16:30759200-30760400	Active TSS	Sigmoid Colon	Sigmoid Colon
30	chr16:30759200-30760400	Active TSS	Small Intestine	intestine
31	chr16:30759200-30760400	Active TSS	Thymus	Thymus
32	chr16:30759200-30760600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr16:30759200-30760600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr16:30759200-30760600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr16:30759200-30760600	Active TSS	Fetal Intestine Large	intestine
36	chr16:30759200-30760600	Active TSS	Fetal Stomach	stomach
37	chr16:30759200-30760600	Active TSS	Ovary	ovary
38	chr16:30759200-30760600	Active TSS	Psoas Muscle	Psoas
39	chr16:30759200-30760600	Active TSS	A549	lung
40	chr16:30759200-30760800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr16:30759200-30760800	Active TSS	Brain Germinal Matrix	brain
42	chr16:30759200-30760800	Active TSS	Fetal Kidney	kidney
43	chr16:30759200-30761000	Active TSS	iPS-20b Cell Line	embryonic stem cell
44	chr16:30759200-30761000	Active TSS	Stomach Smooth Muscle	stomach
45	chr16:30759200-30761200	Active TSS	HUES48 Cell Line	embryonic stem cell
46	chr16:30759200-30761200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr16:30759200-30761400	Active TSS	H1 Cell Line	embryonic stem cell
48	chr16:30759400-30759800	Active TSS	Primary B cells from cord blood	blood
49	chr16:30759400-30760000	Active TSS	Primary T cells fromperipheralblood	blood
50	chr16:30759400-30760000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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