Variant report

Variant	rs545333504
Chromosome Location	chr16:48419938-48419939
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	chr16:48419758-48420126	GM12891	blood:	n/a	n/a
2	POLR2A	chr16:48418893-48419992	GM12891	blood:	n/a	n/a
3	USF2	chr16:48419496-48420150	Hela-S3	cervix:	n/a	chr16:48419664-48419680 chr16:48419620-48419636
4	TBP	chr16:48418960-48420009	K562	blood:	n/a	n/a
5	POLR2A	chr16:48418344-48420060	GM19193	blood:	n/a	n/a
6	TAF1	chr16:48418296-48420023	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr16:48419847-48420060	GM12878	blood:	n/a	n/a
8	MYC	chr16:48418348-48419999	K562	blood:	n/a	chr16:48419566-48419577 chr16:48419568-48419575 chr16:48419659-48419669 chr16:48419567-48419576 chr16:48419567-48419576
9	UBTF	chr16:48417697-48420053	K562	blood:	n/a	n/a
10	E2F6	chr16:48419315-48420124	H1-hESC	embryonic stem cell:	n/a	chr16:48419361-48419371 chr16:48419711-48419721 chr16:48419419-48419427 chr16:48419408-48419417 chr16:48419418-48419429 chr16:48419377-48419386 chr16:48419418-48419428 chr16:48419419-48419427 chr16:48419429-48419438 chr16:48419334-48419343
11	CHD2	chr16:48419447-48419985	H1-hESC	embryonic stem cell:	n/a	chr16:48419623-48419633
12	RCOR1	chr16:48419193-48419978	Hela-S3	cervix:	n/a	n/a
13	MAX	chr16:48419287-48420132	SK-N-SH	brain:	n/a	chr16:48419566-48419577 chr16:48419568-48419575 chr16:48419659-48419669 chr16:48419567-48419576 chr16:48419567-48419576
14	RELA	chr16:48419080-48420188	GM18951	blood:	n/a	chr16:48419975-48419984 chr16:48419975-48419984
15	POLR2A	chr16:48418929-48420046	HepG2	liver:	n/a	n/a
16	MAX	chr16:48419023-48420098	GM12878	blood:	n/a	chr16:48419566-48419577 chr16:48419568-48419575 chr16:48419659-48419669 chr16:48419567-48419576 chr16:48419567-48419576
17	SMC3	chr16:48419249-48420051	Hela-S3	cervix:	n/a	n/a
18	RFX5	chr16:48419803-48419945	H1-hESC	embryonic stem cell:	n/a	chr16:48419880-48419895
19	POLR2A	chr16:48418988-48420136	GM12878	blood:	n/a	n/a
20	ZBTB7A	chr16:48419347-48419972	K562	blood:	n/a	n/a
21	RELA	chr16:48419304-48420109	GM15510	blood:	n/a	chr16:48419975-48419984 chr16:48419975-48419984
22	MAX	chr16:48417642-48420083	Hela-S3	cervix:	n/a	chr16:48419566-48419577 chr16:48419568-48419575 chr16:48419659-48419669 chr16:48419567-48419576 chr16:48419567-48419576
23	CHD1	chr16:48418974-48419965	GM12878	blood:	n/a	chr16:48419623-48419633 chr16:48418977-48418984
24	POLR2A	chr16:48418898-48419981	GM12891	blood:	n/a	n/a
25	MYC	chr16:48417510-48420136	MCF10A-Er-Src	breast:	n/a	chr16:48419566-48419577 chr16:48419568-48419575 chr16:48419659-48419669 chr16:48419567-48419576 chr16:48419567-48419576
26	POLR2A	chr16:48418477-48419975	GM12878	blood:	n/a	n/a
27	POLR2A	chr16:48418335-48420020	ECC-1	luminal epithelium:	n/a	n/a
28	ARID3A	chr16:48419894-48420137	HepG2	liver:	n/a	n/a
29	MXI1	chr16:48419349-48419978	H1-hESC	embryonic stem cell:	n/a	n/a
30	MYC	chr16:48419318-48420075	H1-hESC	embryonic stem cell:	n/a	chr16:48419566-48419577 chr16:48419568-48419575 chr16:48419659-48419669 chr16:48419567-48419576 chr16:48419567-48419576
31	TBP	chr16:48419445-48419969	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr16:48417818-48420233	Hela-S3	cervix:	n/a	n/a
33	BHLHE40	chr16:48417811-48420020	K562	blood:	n/a	chr16:48419664-48419680 chr16:48419620-48419636 chr16:48418657-48418673
34	POLR2A	chr16:48418327-48419985	HUVEC	blood vessel:	n/a	n/a
35	PML	chr16:48418897-48420027	GM12878	blood:	n/a	n/a
36	POLR2A	chr16:48418323-48420007	K562	blood:	n/a	n/a
37	POLR2A	chr16:48418793-48420145	GM12892	blood:	n/a	n/a
38	E2F4	chr16:48418928-48420047	MCF10A-Er-Src	breast:	n/a	chr16:48419361-48419371 chr16:48419711-48419721 chr16:48419419-48419427 chr16:48419311-48419318 chr16:48419408-48419417 chr16:48419311-48419318 chr16:48419418-48419429 chr16:48418977-48418984 chr16:48419377-48419386 chr16:48419311-48419319 chr16:48419418-48419428 chr16:48419419-48419427 chr16:48419429-48419438 chr16:48419311-48419318 chr16:48419311-48419319 chr16:48419334-48419343
39	MXI1	chr16:48417724-48420377	IMR90	lung:	n/a	n/a
40	MXI1	chr16:48416915-48420285	SK-N-SH	brain:	n/a	n/a
41	MXI1	chr16:48419850-48419959	K562	blood:	n/a	n/a
42	TCF7L2	chr16:48418542-48420060	HCT-116	colon:	n/a	n/a
43	POLR2A	chr16:48418829-48420111	GM12878	blood:	n/a	n/a
44	RCOR1	chr16:48419445-48420064	K562	blood:	n/a	n/a
45	RELA	chr16:48419417-48420198	GM19099	blood:	n/a	chr16:48419975-48419984 chr16:48419975-48419984
46	MAZ	chr16:48418386-48420013	K562	blood:	n/a	chr16:48419566-48419577 chr16:48419568-48419575 chr16:48419659-48419669 chr16:48419567-48419576 chr16:48419567-48419576
47	ZBTB7A	chr16:48419323-48420055	ECC-1	luminal epithelium:	n/a	n/a
48	POLR2A	chr16:48417322-48420227	H1-hESC	embryonic stem cell:	n/a	n/a
49	NRF1	chr16:48419088-48420228	SK-N-SH	brain:	n/a	chr16:48419428-48419439 chr16:48419532-48419546 chr16:48419428-48419442 chr16:48419408-48419417 chr16:48419330-48419339 chr16:48419427-48419438 chr16:48419387-48419396 chr16:48419425-48419439 chr16:48419818-48419827 chr16:48419428-48419437
50	MXI1	chr16:48419234-48420096	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:48417371..48420713-chr16:48642499..48645364,3	K562	blood:
2	chr1:212208566..212209259-chr16:48419035..48419960,2	Hela-S3	cervix:
3	chr12:57039442..57040047-chr16:48419364..48420064,2	Hela-S3	cervix:
4	chr16:48419382..48420884-chr16:48422551..48425300,2	MCF-7	breast:
5	chr16:48398121..48402229-chr16:48414201..48420573,11	MCF-7	breast:
6	chr16:48397931..48401931-chr16:48416758..48423536,12	MCF-7	breast:
7	chr16:48417608..48421302-chr16:48425063..48429266,6	K562	blood:
8	chr16:48380431..48382791-chr16:48417861..48420626,2	K562	blood:
9	chr16:48417956..48420702-chr16:48642244..48644303,3	K562	blood:
10	chr16:48419410..48421944-chr16:48545496..48547470,2	MCF-7	breast:
11	chr16:48419370..48419971-chr19:17515260..17516132,2	Hela-S3	cervix:
12	chr16:48418015..48420544-chr16:48643775..48645908,3	MCF-7	breast:
13	chr11:6502371..6503037-chr16:48419377..48420020,2	NB4	blood:
14	chr16:48388635..48393801-chr16:48416034..48420195,7	K562	blood:
15	chr16:48396253..48404408-chr16:48411826..48421166,27	K562	blood:
16	chr16:48417747..48421302-chr16:48425164..48430136,6	K562	blood:
17	chr16:48388703..48393705-chr16:48416034..48420195,6	K562	blood:

Variant related genes	Relation type
SIAH1	TF binding region
ENSG00000132286	Chromatin interaction
ENSG00000196470	Chromatin interaction
ENSG00000102910	Chromatin interaction
ENSG00000265264	Chromatin interaction
ENSG00000143476	Chromatin interaction
ENSG00000132254	Chromatin interaction
ENSG00000143493	Chromatin interaction
ENSG00000130303	Chromatin interaction
ENSG00000102921	Chromatin interaction
ENSG00000110955	Chromatin interaction

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	nsv1061316	chr16:48264175-48594219	Weak transcription Strong transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	esv1821072	chr16:48268318-48504364	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv833219	chr16:48290595-48459301	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv1061708	chr16:48304343-48482594	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	nsv542917	chr16:48304343-48482594	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	esv2758424	chr16:48329437-48479754	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	esv2758645	chr16:48329437-48479754	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	esv1837150	chr16:48375777-48470715	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
9	esv1836876	chr16:48395527-48459558	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
10	esv1842331	chr16:48395527-48459558	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
11	nsv960007	chr16:48413351-48426696	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	diseases
12	nsv572540	chr16:48415611-48423780	Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
13	nsv1056931	chr16:48417388-48482594	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
14	nsv542918	chr16:48417388-48482594	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
15	esv3521659	chr16:48417776-48420599	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
16	esv3521660	chr16:48417776-48420599	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
17	esv3327230	chr16:48418276-48420824	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
18	esv1836854	chr16:48418505-48440630	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	diseases
19	esv1840262	chr16:48418505-48440630	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	diseases
20	esv1795074	chr16:48418505-48459558	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
21	esv1800739	chr16:48418505-48560315	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
22	esv1798711	chr16:48418681-48440630	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	24 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	chr16:48416800-48420200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr16:48416800-48420200	Active TSS	HSMMtube	muscle
3	chr16:48416800-48420400	Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr16:48417000-48420000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr16:48417000-48420000	Active TSS	NHDF-Ad	bronchial
6	chr16:48417200-48420000	Active TSS	Aorta	Aorta
7	chr16:48417200-48420000	Active TSS	Fetal Intestine Large	intestine
8	chr16:48417200-48420000	Active TSS	Ovary	ovary
9	chr16:48417200-48420200	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr16:48417200-48420200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr16:48417200-48420200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr16:48417200-48420200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr16:48417200-48420200	Active TSS	Psoas Muscle	Psoas
14	chr16:48417400-48420000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr16:48417400-48420000	Active TSS	Brain Angular Gyrus	brain
16	chr16:48417400-48420000	Active TSS	HSMM	muscle
17	chr16:48417400-48420200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
18	chr16:48417400-48420200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr16:48417400-48420200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr16:48417400-48420200	Active TSS	Fetal Brain Female	brain
21	chr16:48417400-48420200	Active TSS	Fetal Intestine Small	intestine
22	chr16:48417600-48420000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr16:48417600-48420000	Active TSS	Brain Hippocampus Middle	brain
24	chr16:48417600-48420000	Active TSS	Pancreatic Islets	Pancreatic Islet
25	chr16:48417600-48420000	Active TSS	Left Ventricle	heart
26	chr16:48417600-48420200	Active TSS	H9 Cell Line	embryonic stem cell
27	chr16:48417600-48420200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr16:48417600-48420200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr16:48417600-48420200	Active TSS	Fetal Thymus	thymus
30	chr16:48417800-48420000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr16:48417800-48420000	Active TSS	iPS-18 Cell Line	embryonic stem cell
32	chr16:48417800-48420000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr16:48417800-48420000	Active TSS	Lung	lung
34	chr16:48417800-48420000	Active TSS	Sigmoid Colon	Sigmoid Colon
35	chr16:48417800-48420200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr16:48417800-48420200	Active TSS	HUES64 Cell Line	embryonic stem cell
37	chr16:48417800-48420200	Active TSS	Placenta Amnion	Placenta Amnion
38	chr16:48417800-48420400	Active TSS	iPS-20b Cell Line	embryonic stem cell
39	chr16:48418000-48420000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr16:48418000-48420000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr16:48418000-48420000	Active TSS	Gastric	stomach
42	chr16:48418000-48420000	Active TSS	Spleen	Spleen
43	chr16:48418000-48420200	Active TSS	iPS-15b Cell Line	embryonic stem cell
44	chr16:48418000-48420200	Active TSS	Colon Smooth Muscle	Colon
45	chr16:48418200-48420000	Active TSS	Duodenum Mucosa	Duodenum
46	chr16:48418200-48420200	Active TSS	Rectal Mucosa Donor 29	rectum
47	chr16:48418200-48420200	Active TSS	Rectal Mucosa Donor 31	rectum
48	chr16:48418200-48420200	Active TSS	Rectal Smooth Muscle	rectum
49	chr16:48418400-48420000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
50	chr16:48418600-48420000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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