Variant report

Variant	rs544175056
Chromosome Location	chr16:75529610-75529611
allele	-/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	chr16:75529194-75529888	H1-hESC	embryonic stem cell:	n/a	chr16:75529431-75529441 chr16:75529229-75529239 chr16:75529701-75529717
2	MAX	chr16:75529190-75529934	H1-hESC	embryonic stem cell:	n/a	chr16:75529431-75529441 chr16:75529229-75529239 chr16:75529701-75529717
3	TBP	chr16:75528517-75529623	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr16:75528354-75529660	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr16:75529137-75529630	HCT-116	colon:	n/a	n/a
6	POLR2A	chr16:75528247-75529653	H1-hESC	embryonic stem cell:	n/a	n/a
7	TCF12	chr16:75529005-75529636	ECC-1	luminal epithelium:	n/a	chr16:75529437-75529447
8	SIN3A	chr16:75528386-75529728	H1-hESC	embryonic stem cell:	n/a	chr16:75529421-75529434
9	ZBTB7A	chr16:75529028-75529666	ECC-1	luminal epithelium:	n/a	n/a
10	TAF1	chr16:75528564-75529665	H1-hESC	embryonic stem cell:	n/a	n/a
11	SP1	chr16:75529194-75529644	H1-hESC	embryonic stem cell:	n/a	chr16:75529412-75529423 chr16:75529430-75529441 chr16:75529430-75529442 chr16:75529432-75529441 chr16:75529431-75529441 chr16:75529412-75529424 chr16:75529413-75529423 chr16:75529431-75529440 chr16:75529382-75529393 chr16:75529414-75529423 chr16:75529413-75529422 chr16:75529547-75529557 chr16:75529412-75529424 chr16:75529552-75529562

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:75529289..75531150-chr16:75543079..75544974,2	K562	blood:

Variant related genes	Relation type
CHST6	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916502	chr16:74845880-75732365	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
2	nsv931939	chr16:75261354-75765025	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
3	nsv1065995	chr16:75373756-75626027	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
4	nsv1063718	chr16:75395969-75608071	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
5	esv2758432	chr16:75419614-75576971	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
6	esv2758657	chr16:75419614-75576971	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
7	nsv525955	chr16:75473332-75628345	Strong transcription Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
8	nsv457521	chr16:75487758-75603925	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
9	nsv572979	chr16:75487758-75603925	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
10	esv3485939	chr16:75497453-75550284	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
11	esv3485940	chr16:75497453-75550284	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
12	nsv572980	chr16:75505046-75549885	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
13	esv3313995	chr16:75512166-75566404	Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
14	esv3313996	chr16:75512166-75566404	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
15	nsv532561	chr16:75519574-75636977	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
16	nsv572981	chr16:75521030-75581160	Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
17	nsv1059777	chr16:75522954-75572713	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
18	nsv516675	chr16:75528511-75572012	Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
19	nsv906914	chr16:75528511-75573884	Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
20	nsv906915	chr16:75528511-75574729	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
21	nsv906916	chr16:75528511-75579233	Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
22	nsv906917	chr16:75528511-75581160	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75526800-75531600	Weak transcription	Hela-S3	cervix
2	chr16:75528600-75529800	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr16:75528600-75529800	Enhancers	Spleen	Spleen
4	chr16:75529000-75529800	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr16:75529000-75529800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr16:75529200-75529800	Active TSS	GM12878-XiMat	blood
7	chr16:75529200-75530000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
8	chr16:75529200-75530000	Bivalent Enhancer	Placenta	Placenta
9	chr16:75529400-75529800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr16:75529400-75529800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr16:75529400-75529800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr16:75529400-75529800	Enhancers	iPS-20b Cell Line	embryonic stem cell
13	chr16:75529400-75529800	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
14	chr16:75529400-75529800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr16:75529400-75529800	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr16:75529400-75529800	Enhancers	Brain Angular Gyrus	brain
17	chr16:75529400-75529800	Flanking Active TSS	Brain Anterior Caudate	brain
18	chr16:75529400-75529800	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr16:75529400-75529800	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
20	chr16:75529400-75529800	Enhancers	Duodenum Mucosa	Duodenum
21	chr16:75529400-75529800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
22	chr16:75529400-75531200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr16:75529400-75532200	Weak transcription	Aorta	Aorta
24	chr16:75529400-75532200	Weak transcription	Pancreas	Pancrea
25	chr16:75529400-75532200	Weak transcription	HMEC	breast
26	chr16:75529400-75532200	Weak transcription	HSMM	muscle
27	chr16:75529400-75533600	Weak transcription	Left Ventricle	heart
28	chr16:75529400-75535200	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr16:75529400-75535600	Weak transcription	Brain Substantia Nigra	brain
30	chr16:75529400-75550000	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr16:75529600-75529800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
32	chr16:75529600-75529800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
33	chr16:75529600-75529800	Flanking Active TSS	H9 Cell Line	embryonic stem cell
34	chr16:75529600-75529800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
35	chr16:75529600-75529800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
36	chr16:75529600-75529800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr16:75529600-75529800	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr16:75529600-75529800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
39	chr16:75529600-75529800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr16:75529600-75529800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr16:75529600-75529800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr16:75529600-75529800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr16:75529600-75529800	Enhancers	Brain Cingulate Gyrus	brain
44	chr16:75529600-75529800	Enhancers	Fetal Muscle Leg	muscle
45	chr16:75529600-75529800	Flanking Bivalent TSS/Enh	HepG2	liver
46	chr16:75529600-75531200	Weak transcription	Brain Hippocampus Middle	brain
47	chr16:75529600-75531400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr16:75529600-75531600	Weak transcription	Fetal Heart	heart
49	chr16:75529600-75531800	Weak transcription	Stomach Smooth Muscle	stomach
50	chr16:75529600-75533400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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