Variant report

Variant	rs375548347
Chromosome Location	chr16:47007071-47007072
allele	C/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	POLR2A	chr16:47006529-47007954	HepG2	liver:	n/a	n/a
2	HDAC2	chr16:47006707-47007298	MCF-7	breast:	n/a	n/a
3	POLR2A	chr16:47006279-47008925	GM12878	blood:	n/a	n/a
4	MAX	chr16:47006177-47008159	K562	blood:	n/a	chr16:47006377-47006384 chr16:47006376-47006385
5	FOXA1	chr16:47006873-47008093	HepG2	liver:	n/a	n/a
6	SIN3AK20	chr16:47007034-47007250	HepG2	liver:	n/a	n/a
7	POLR2A	chr16:47006360-47008038	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr16:47006406-47008908	Raji	blood:	n/a	n/a
9	POLR2A	chr16:47006774-47008042	MCF-7	breast:	n/a	n/a
10	JUND	chr16:47006728-47007814	H1-hESC	embryonic stem cell:	n/a	n/a
11	TAF1	chr16:47006696-47008031	HepG2	liver:	n/a	n/a
12	POLR2A	chr16:47006263-47008909	GM18505	blood:	n/a	n/a
13	TAF1	chr16:47006608-47007071	GM12878	blood:	n/a	n/a
14	POLR2A	chr16:47006349-47008106	H1-neurons	neurons:	n/a	n/a
15	MAX	chr16:47006133-47008675	HepG2	liver:	n/a	chr16:47006377-47006384 chr16:47006376-47006385 chr16:47008457-47008468 chr16:47008377-47008387
16	MAZ	chr16:47006661-47008190	IMR90	lung:	n/a	n/a
17	POLR2A	chr16:47006729-47007110	HCT-116	colon:	n/a	n/a
18	MAX	chr16:47006955-47008660	A549	lung:	n/a	chr16:47008457-47008468 chr16:47008377-47008387
19	POLR2A	chr16:47006578-47008985	MCF10A-Er-Src	breast:	n/a	n/a
20	RCOR1	chr16:47006576-47007160	HepG2	liver:	n/a	n/a
21	POLR2A	chr16:47006765-47008750	K562	blood:	n/a	n/a
22	YY1	chr16:47006719-47008034	K562	blood:	n/a	chr16:47007261-47007270 chr16:47007668-47007682 chr16:47007552-47007566 chr16:47007261-47007272 chr16:47007253-47007267 chr16:47007597-47007606 chr16:47007259-47007273 chr16:47006982-47006991 chr16:47007264-47007273 chr16:47007352-47007366 chr16:47007739-47007750 chr16:47007355-47007369 chr16:47007908-47007922 chr16:47007298-47007312 chr16:47007265-47007279
23	SMARCB1	chr16:47006657-47008095	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr16:47006400-47007144	GM12892	blood:	n/a	n/a
25	TAF1	chr16:47006442-47008108	H1-hESC	embryonic stem cell:	n/a	n/a
26	PML	chr16:47006247-47008765	GM12878	blood:	n/a	n/a
27	POLR2A	chr16:47006560-47008696	K562	blood:	n/a	n/a
28	POLR2A	chr16:47006105-47008953	GM12878	blood:	n/a	n/a
29	POLR2A	chr16:47006739-47008051	K562	blood:	n/a	n/a
30	POLR2A	chr16:47006129-47008902	HepG2	liver:	n/a	n/a
31	CREB1	chr16:47006574-47008131	HepG2	liver:	n/a	n/a
32	HMGN3	chr16:47006746-47007969	K562	blood:	n/a	n/a
33	POLR2A	chr16:47006029-47008800	GM12892	blood:	n/a	n/a
34	SIN3A	chr16:47006356-47007952	H1-hESC	embryonic stem cell:	n/a	chr16:47007739-47007752
35	POLR2A	chr16:47006207-47007201	GM12891	blood:	n/a	n/a
36	POLR2A	chr16:47006034-47007207	GM12878	blood:	n/a	n/a
37	POLR2A	chr16:47006680-47008065	K562	blood:	n/a	n/a
38	TCF12	chr16:47006488-47008181	A549	lung:	n/a	n/a
39	MAX	chr16:47006290-47008595	K562	blood:	n/a	chr16:47006377-47006384 chr16:47006376-47006385 chr16:47008457-47008468 chr16:47008377-47008387
40	POLR2A	chr16:47006431-47008620	GM12878	blood:	n/a	n/a
41	ZBTB7A	chr16:47006798-47007336	K562	blood:	n/a	n/a
42	TAF1	chr16:47006580-47007143	H1-hESC	embryonic stem cell:	n/a	n/a
43	YY1	chr16:47007056-47007262	K562	blood:	n/a	n/a
44	POLR2A	chr16:47006352-47007223	GM12891	blood:	n/a	n/a
45	POLR2A	chr16:47006399-47007224	H1-neurons	neurons:	n/a	n/a
46	POLR2A	chr16:47006923-47007097	Gliobla	brain:	n/a	n/a
47	ESR1	chr16:47006915-47007224	T-47D	breast:	n/a	n/a
48	ZNF263	chr16:47006255-47008040	HEK293-T-REx	kidney:	n/a	chr16:47007130-47007139 chr16:47006854-47006863
49	POLR2A	chr16:47006167-47008946	MCF10A-Er-Src	breast:	n/a	n/a
50	POLR2A	chr16:47006158-47007195	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:46864940..46866562-chr16:47005297..47007739,2	K562	blood:
2	chr16:47005880..47007672-chr16:48188502..48190685,2	K562	blood:
3	chr16:47005665..47009288-chr16:47176479..47179650,5	K562	blood:
4	chr16:47005815..47008447-chr16:47177298..47179122,2	K562	blood:

Variant related genes	Relation type
DNAJA2	TF binding region
ENSG00000261173	TF binding region
ENSG00000155330	Chromatin interaction
ENSG00000140798	Chromatin interaction
ENSG00000260281	Chromatin interaction
ENSG00000171208	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1059456	chr16:46463770-47307580	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
2	nsv1066115	chr16:46463770-47318415	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
3	nsv1059147	chr16:46500740-47010960	Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv542909	chr16:46500740-47010960	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
5	esv3439120	chr16:47006276-47008824	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:47004400-47008600	Active TSS	GM12878-XiMat	blood
2	chr16:47005600-47007600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
3	chr16:47005600-47008000	Active TSS	A549	lung
4	chr16:47005600-47008200	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr16:47005800-47008200	Active TSS	H1 Cell Line	embryonic stem cell
6	chr16:47005800-47008400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr16:47006000-47007400	Active TSS	Right Atrium	heart
8	chr16:47006000-47008000	Active TSS	iPS-18 Cell Line	embryonic stem cell
9	chr16:47006000-47008000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr16:47006000-47008200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr16:47006000-47008200	Active TSS	Fetal Intestine Small	intestine
12	chr16:47006000-47008200	Active TSS	Fetal Thymus	thymus
13	chr16:47006000-47008200	Active TSS	HSMMtube	muscle
14	chr16:47006000-47008400	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr16:47006000-47008400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr16:47006000-47008400	Active TSS	H9 Cell Line	embryonic stem cell
17	chr16:47006000-47008400	Flanking Active TSS	Primary B cells from cord blood	blood
18	chr16:47006000-47008400	Active TSS	Right Ventricle	heart
19	chr16:47006200-47007800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr16:47006200-47007800	Active TSS	Stomach Mucosa	stomach
21	chr16:47006200-47008000	Active TSS	Gastric	stomach
22	chr16:47006200-47008000	Active TSS	Lung	lung
23	chr16:47006200-47008200	Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr16:47006200-47008200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr16:47006200-47008200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr16:47006200-47008200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
27	chr16:47006200-47008200	Active TSS	Ovary	ovary
28	chr16:47006200-47008400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr16:47006200-47008400	Active TSS	Fetal Muscle Trunk	muscle
30	chr16:47006200-47008600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr16:47006400-47007800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr16:47006400-47007800	Active TSS	HMEC	breast
33	chr16:47006400-47008000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr16:47006400-47008000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr16:47006400-47008000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
36	chr16:47006400-47008000	Active TSS	Muscle Satellite Cultured Cells	--
37	chr16:47006400-47008000	Active TSS	NHDF-Ad	bronchial
38	chr16:47006400-47008200	Active TSS	HUES48 Cell Line	embryonic stem cell
39	chr16:47006400-47008200	Active TSS	iPS-20b Cell Line	embryonic stem cell
40	chr16:47006400-47008200	Active TSS	Primary T helper naive cells from peripheral blood	blood
41	chr16:47006400-47008200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr16:47006400-47008200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr16:47006400-47008200	Active TSS	Esophagus	oesophagus
44	chr16:47006400-47008200	Active TSS	Fetal Intestine Large	intestine
45	chr16:47006400-47008200	Active TSS	Fetal Kidney	kidney
46	chr16:47006400-47008200	Active TSS	Sigmoid Colon	Sigmoid Colon
47	chr16:47006400-47008200	Active TSS	Small Intestine	intestine
48	chr16:47006400-47008200	Active TSS	HSMM	muscle
49	chr16:47006400-47008200	Active TSS	NHLF	lung
50	chr16:47006400-47008400	Active TSS	Pancreatic Islets	Pancreatic Islet

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