Variant report

Variant	rs544569398
Chromosome Location	chr16:30759134-30759135
allele	A/G
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	MAX	chr16:30759069-30760006	ECC-1	luminal epithelium:	n/a	chr16:30759488-30759497 chr16:30759487-30759498 chr16:30759897-30759907
2	REST	chr16:30759061-30759703	A549	lung:	n/a	chr16:30759503-30759516
3	ELF1	chr16:30758936-30760014	HCT-116	colon:	n/a	chr16:30759504-30759516 chr16:30759458-30759469 chr16:30759459-30759468
4	POLR2A	chr16:30758671-30759951	HepG2	liver:	n/a	n/a
5	ELF1	chr16:30759073-30759866	MCF-7	breast:	n/a	chr16:30759504-30759516 chr16:30759458-30759469 chr16:30759459-30759468
6	POLR2A	chr16:30758916-30760307	K562	blood:	n/a	n/a
7	SIN3AK20	chr16:30759115-30759895	SK-N-SH	brain:	n/a	n/a
8	ELF1	chr16:30758717-30759895	HepG2	liver:	n/a	chr16:30759504-30759516 chr16:30759458-30759469 chr16:30759459-30759468
9	TEAD4	chr16:30759098-30759729	HepG2	liver:	n/a	n/a
10	POLR2A	chr16:30759053-30760149	GM12878	blood:	n/a	n/a
11	GABPA	chr16:30759101-30759825	K562	blood:	n/a	n/a
12	ELF1	chr16:30758878-30759773	A549	lung:	n/a	chr16:30759504-30759516 chr16:30759458-30759469 chr16:30759459-30759468
13	POLR2A	chr16:30759067-30759939	A549	lung:	n/a	n/a
14	HEY1	chr16:30759119-30759954	HepG2	liver:	n/a	n/a
15	TEAD4	chr16:30759115-30759683	K562	blood:	n/a	n/a
16	MBD4	chr16:30759124-30759581	HepG2	liver:	n/a	n/a
17	POLR2A	chr16:30758664-30759958	GM12892	blood:	n/a	n/a
18	USF1	chr16:30759070-30759958	HCT-116	colon:	n/a	n/a
19	POLR2A	chr16:30759120-30759916	HUVEC	blood vessel:	n/a	n/a
20	USF1	chr16:30759044-30759762	SK-N-SH	brain:	n/a	n/a
21	FOXM1	chr16:30759028-30759705	GM12878	blood:	n/a	n/a
22	POU2F2	chr16:30759022-30759628	GM12891	blood:	n/a	n/a
23	POLR2A	chr16:30758682-30760462	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr16:30758673-30759913	GM12892	blood:	n/a	n/a
25	NFATC1	chr16:30758891-30759782	GM12878	blood:	n/a	n/a
26	ELF1	chr16:30759000-30759761	A549	lung:	n/a	chr16:30759504-30759516 chr16:30759458-30759469 chr16:30759459-30759468
27	POLR2A	chr16:30758860-30760292	H1-hESC	embryonic stem cell:	n/a	n/a
28	ELF1	chr16:30758929-30759831	SK-N-SH	brain:	n/a	chr16:30759504-30759516 chr16:30759458-30759469 chr16:30759459-30759468
29	POLR2A	chr16:30758745-30759956	GM12891	blood:	n/a	n/a
30	TAF1	chr16:30759061-30759986	HepG2	liver:	n/a	n/a
31	HEY1	chr16:30758850-30759942	K562	blood:	n/a	n/a
32	POLR2A	chr16:30758666-30759935	K562	blood:	n/a	n/a
33	MAX	chr16:30759085-30759988	HCT-116	colon:	n/a	chr16:30759488-30759497 chr16:30759487-30759498 chr16:30759897-30759907
34	HCFC1	chr16:30757963-30760324	Hela-S3	cervix:	n/a	n/a
35	TCF12	chr16:30759041-30760013	ECC-1	luminal epithelium:	n/a	chr16:30759415-30759425 chr16:30759472-30759480
36	USF1	chr16:30758978-30759854	HCT-116	colon:	n/a	n/a
37	POLR2A	chr16:30758672-30760027	PFSK-1	brain:	n/a	n/a
38	POLR2A	chr16:30758695-30759969	HCT-116	colon:	n/a	n/a
39	POLR2A	chr16:30758706-30759859	A549	lung:	n/a	n/a
40	POLR2A	chr16:30758784-30759962	GM12891	blood:	n/a	n/a
41	POLR2A	chr16:30758666-30759954	SK-N-SH	brain:	n/a	n/a
42	POLR2A	chr16:30759108-30759956	HepG2	liver:	n/a	n/a
43	MAX	chr16:30759126-30759953	A549	lung:	n/a	chr16:30759488-30759497 chr16:30759487-30759498 chr16:30759897-30759907
44	FOSL2	chr16:30759123-30759940	HepG2	liver:	n/a	n/a
45	ELF1	chr16:30758971-30759909	HepG2	liver:	n/a	chr16:30759504-30759516 chr16:30759458-30759469 chr16:30759459-30759468
46	YY1	chr16:30758997-30759971	HepG2	liver:	n/a	n/a
47	POLR2A	chr16:30758968-30760348	Hela-S3	cervix:	n/a	n/a
48	POLR2A	chr16:30759063-30759877	PBDE	blood:	n/a	n/a
49	NFATC1	chr16:30758825-30759863	GM12878	blood:	n/a	n/a
50	POLR2A	chr16:30758979-30759965	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:30758359..30761183-chr16:30932981..30935164,3	MCF-7	breast:
2	chr16:30757885..30759765-chr16:30885602..30888334,3	MCF-7	breast:
3	chr16:30757305..30759426-chr16:30951863..30953472,2	MCF-7	breast:
4	chr16:30707181..30712037-chr16:30757231..30762842,12	MCF-7	breast:
5	chr16:30708929..30712034-chr16:30758251..30761730,4	K562	blood:
6	chr16:30756860..30759445-chr16:30904243..30907032,3	K562	blood:
7	chr16:30709802..30712559-chr16:30757474..30761628,7	MCF-7	breast:
8	chr16:30749452..30756439-chr16:30756844..30761929,14	K562	blood:
9	chr16:30723735..30725867-chr16:30757899..30759500,2	MCF-7	breast:
10	chr16:30759018..30761215-chr16:30796843..30799156,2	MCF-7	breast:
11	chr16:30671281..30672965-chr16:30757112..30759562,2	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:

Variant related genes	Relation type
PHKG2	TF binding region
ENSG00000150281	Chromatin interaction
ENSG00000260852	Chromatin interaction
ENSG00000099385	Chromatin interaction
ENSG00000211591	Chromatin interaction
ENSG00000080603	Chromatin interaction
ENSG00000099364	Chromatin interaction
ENSG00000156860	Chromatin interaction
ENSG00000102870	Chromatin interaction
ENSG00000265991	Chromatin interaction
ENSG00000261840	Chromatin interaction
ENSG00000260083	Chromatin interaction
ENSG00000260899	Chromatin interaction
ENSG00000262721	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	chr16:30753400-30759200	Weak transcription	Gastric	stomach
2	chr16:30755600-30759200	Weak transcription	Ovary	ovary
3	chr16:30758600-30759400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr16:30758800-30759200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr16:30758800-30759200	Enhancers	Pancreas	Pancrea
6	chr16:30758800-30759200	Enhancers	Spleen	Spleen
7	chr16:30758800-30759200	Flanking Active TSS	A549	lung
8	chr16:30758800-30759200	Enhancers	HSMM	muscle
9	chr16:30758800-30759200	Enhancers	HSMMtube	muscle
10	chr16:30758800-30759200	Enhancers	HUVEC	blood vessel
11	chr16:30758800-30759400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr16:30758800-30759400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr16:30758800-30759400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr16:30758800-30759400	Flanking Active TSS	Primary B cells from cord blood	blood
15	chr16:30758800-30759400	Flanking Active TSS	Primary T cells from cord blood	blood
16	chr16:30758800-30759400	Flanking Active TSS	Primary hematopoietic stem cells	blood
17	chr16:30758800-30759400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
18	chr16:30758800-30759400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
19	chr16:30758800-30759400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
20	chr16:30758800-30759400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
21	chr16:30758800-30759400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
22	chr16:30758800-30759400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr16:30758800-30759400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr16:30758800-30759400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr16:30758800-30759400	Flanking Active TSS	Colonic Mucosa	Colon
26	chr16:30758800-30759400	Flanking Active TSS	Colon Smooth Muscle	Colon
27	chr16:30758800-30759400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
28	chr16:30758800-30759400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
29	chr16:30758800-30759400	Flanking Active TSS	GM12878-XiMat	blood
30	chr16:30758800-30759400	Flanking Active TSS	Hela-S3	cervix
31	chr16:30758800-30759400	Flanking Active TSS	HepG2	liver
32	chr16:30758800-30759400	Flanking Active TSS	K562	blood
33	chr16:30758800-30759400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
34	chr16:30758800-30759400	Flanking Active TSS	NHDF-Ad	bronchial
35	chr16:30758800-30759400	Flanking Active TSS	NHEK	skin
36	chr16:30758800-30759600	Flanking Active TSS	Dnd41	blood
37	chr16:30758800-30760400	Active TSS	ES-I3 Cell Line	embryonic stem cell
38	chr16:30758800-30760600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr16:30758800-30760600	Active TSS	Brain Substantia Nigra	brain
40	chr16:30758800-30760600	Active TSS	Fetal Brain Female	brain
41	chr16:30758800-30760800	Active TSS	Rectal Smooth Muscle	rectum
42	chr16:30759000-30759200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
43	chr16:30759000-30759200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr16:30759000-30759200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr16:30759000-30759200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr16:30759000-30759200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr16:30759000-30759200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
48	chr16:30759000-30759200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
49	chr16:30759000-30759200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr16:30759000-30759200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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