Variant report

Variant	rs534678781
Chromosome Location	chr16:75497698-75497699
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	SIN3AK20	chr16:75497506-75499210	MCF-7	breast:	n/a	n/a
2	POLR2A	chr16:75497554-75498953	HUVEC	blood vessel:	n/a	n/a
3	TFAP2C	chr16:75497549-75498877	Hela-S3	cervix:	n/a	chr16:75497853-75497868
4	YY1	chr16:75497680-75498916	HepG2	liver:	n/a	chr16:75497721-75497732 chr16:75498315-75498329 chr16:75498269-75498283
5	MXI1	chr16:75497444-75499164	SK-N-SH	brain:	n/a	n/a
6	POLR2A	chr16:75497233-75498857	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr16:75497686-75498882	A549	lung:	n/a	n/a
8	POLR2A	chr16:75497193-75498959	K562	blood:	n/a	n/a
9	POLR2A	chr16:75496990-75498909	HepG2	liver:	n/a	n/a
10	ELF1	chr16:75497525-75498877	GM12878	blood:	n/a	n/a
11	POLR2A	chr16:75497307-75497850	H1-hESC	embryonic stem cell:	n/a	n/a
12	TAF1	chr16:75497236-75498916	HepG2	liver:	n/a	n/a
13	POLR2A	chr16:75497484-75498886	PFSK-1	brain:	n/a	n/a
14	TCF7L2	chr16:75497682-75498871	HCT-116	colon:	n/a	chr16:75497736-75497752 chr16:75497741-75497748 chr16:75497738-75497748 chr16:75497736-75497752 chr16:75497739-75497748 chr16:75497737-75497751
15	MXI1	chr16:75497509-75499113	IMR90	lung:	n/a	n/a
16	SMARCB1	chr16:75497676-75498967	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr16:75497554-75497949	HCT-116	colon:	n/a	n/a
18	POLR2A	chr16:75497085-75497708	GM12878	blood:	n/a	n/a
19	SMC3	chr16:75497550-75499270	SK-N-SH	brain:	n/a	n/a
20	RAD21	chr16:75497436-75499119	SK-N-SH	brain:	n/a	chr16:75497507-75497519 chr16:75498125-75498139
21	MYBL2	chr16:75497464-75499160	HepG2	liver:	n/a	n/a
22	POLR2A	chr16:75497220-75497924	Hela-S3	cervix:	n/a	n/a
23	RFX5	chr16:75497694-75497877	Hela-S3	cervix:	n/a	n/a
24	RAD21	chr16:75497614-75498017	IMR90	lung:	n/a	n/a
25	TCF7L2	chr16:75497577-75497942	Hela-S3	cervix:	n/a	chr16:75497736-75497752 chr16:75497741-75497748 chr16:75497738-75497748 chr16:75497736-75497752 chr16:75497739-75497748 chr16:75497737-75497751
26	HCFC1	chr16:75497507-75499209	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr16:75497228-75497755	HepG2	liver:	n/a	n/a
28	TEAD4	chr16:75497622-75497935	H1-hESC	embryonic stem cell:	n/a	n/a
29	HEY1	chr16:75497122-75498873	HepG2	liver:	n/a	chr16:75497902-75497917 chr16:75498319-75498334
30	POLR2A	chr16:75497024-75498978	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr16:75497152-75498894	MCF-7	breast:	n/a	n/a
32	CTCF	chr16:75497640-75497790	RPTEC	kidney:	n/a	n/a
33	POLR2A	chr16:75497666-75498802	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr16:75497198-75498821	GM12878	blood:	n/a	n/a
35	CTCF	chr16:75497660-75497810	AG04449	skin:	n/a	chr16:75497786-75497804
36	POLR2A	chr16:75497656-75498889	ECC-1	luminal epithelium:	n/a	n/a
37	POLR2A	chr16:75497187-75498025	HepG2	liver:	n/a	n/a
38	POLR2A	chr16:75497688-75498884	MCF-7	breast:	n/a	n/a
39	POLR2A	chr16:75497615-75498033	Hela-S3	cervix:	n/a	n/a
40	TAF1	chr16:75497263-75498892	H1-hESC	embryonic stem cell:	n/a	n/a
41	MYBL2	chr16:75497167-75499127	HepG2	liver:	n/a	n/a
42	POLR2A	chr16:75497261-75498924	MCF-7	breast:	n/a	n/a
43	SIN3AK20	chr16:75497638-75497961	HepG2	liver:	n/a	n/a
44	POLR2A	chr16:75497204-75497829	HepG2	liver:	n/a	n/a
45	MYC	chr16:75497681-75497748	HepG2	liver:	n/a	n/a
46	NRF1	chr16:75497517-75499114	SK-N-SH	brain:	n/a	chr16:75497885-75497896 chr16:75498341-75498350 chr16:75498341-75498355 chr16:75497887-75497896 chr16:75498341-75498352 chr16:75497885-75497899 chr16:75498338-75498352
47	TFAP2A	chr16:75497634-75498727	Hela-S3	cervix:	n/a	chr16:75497912-75497923 chr16:75497857-75497867 chr16:75497914-75497922 chr16:75497913-75497921 chr16:75497913-75497921 chr16:75497912-75497923 chr16:75497912-75497923 chr16:75497913-75497921 chr16:75497853-75497868 chr16:75498117-75498125 chr16:75497857-75497867 chr16:75498117-75498125 chr16:75497914-75497922 chr16:75497857-75497867 chr16:75497912-75497923 chr16:75498117-75498125 chr16:75497914-75497922 chr16:75497857-75497867
48	CTCF	chr16:75497680-75497830	SK-N-SH_RA	brain:	n/a	chr16:75497786-75497804
49	GABPA	chr16:75497692-75498212	H1-hESC	embryonic stem cell:	n/a	chr16:75497885-75497896 chr16:75497887-75497896 chr16:75497885-75497899
50	HA-E2F1	chr16:75497530-75499140	MCF-7	breast:	n/a	chr16:75497861-75497871 chr16:75498692-75498704 chr16:75498342-75498351 chr16:75497886-75497895

No.	Distal block	Cell Line	Cell type
1	chr16:75497125..75499382-chr16:75564750..75566395,2	MCF-7	breast:
2	chr16:75495533..75500726-chr16:75509549..75515784,9	MCF-7	breast:
3	chr16:75465991..75469604-chr16:75494524..75499996,12	MCF-7	breast:
4	chr16:75497166..75499836-chr16:75598619..75601609,5	MCF-7	breast:
5	chr16:75496396..75498894-chr16:75652662..75656672,3	MCF-7	breast:
6	chr16:75492503..75494041-chr16:75496484..75498203,2	K562	blood:
7	chr16:75475154..75477431-chr16:75495274..75497923,2	MCF-7	breast:
8	chr16:75492483..75495341-chr16:75495841..75499470,4	K562	blood:
9	chr16:75495991..75500241-chr16:75679416..75683319,6	MCF-7	breast:
10	chr16:75496436..75498553-chr16:75596400..75601675,4	MCF-7	breast:
11	chr16:75496858..75499850-chr16:75589381..75591063,2	K562	blood:
12	chr16:75496672..75499382-chr16:75549463..75551344,4	MCF-7	breast:
13	chr16:75496580..75498737-chr16:75588829..75590831,2	MCF-7	breast:
14	chr16:75497002..75498653-chr16:75549372..75551463,2	K562	blood:
15	chr16:75464062..75469543-chr16:75495268..75500189,14	MCF-7	breast:
16	chr16:75496764..75498931-chr16:75589140..75591199,3	MCF-7	breast:
17	chr16:75181464..75183944-chr16:75497097..75499788,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261476	TF binding region
ENSG00000166848	Chromatin interaction
ENSG00000065427	Chromatin interaction
ENSG00000184517	Chromatin interaction
ENSG00000203472	Chromatin interaction
ENSG00000065457	Chromatin interaction
ENSG00000261476	Chromatin interaction
ENSG00000135702	Chromatin interaction
ENSG00000034713	Chromatin interaction
ENSG00000262583	Chromatin interaction
ENSG00000205084	Chromatin interaction
ENSG00000153774	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 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	esv3437619	chr16:75496876-75499424	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS 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	n/a
11	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
12	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75496000-75499000	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr16:75496600-75497800	Flanking Active TSS	Primary T cells from cord blood	blood
3	chr16:75496600-75497800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr16:75496600-75497800	Flanking Active TSS	Dnd41	blood
5	chr16:75496600-75498000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr16:75496600-75498800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr16:75496600-75498800	Active TSS	GM12878-XiMat	blood
8	chr16:75496600-75499000	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr16:75496800-75498000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
10	chr16:75496800-75498000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr16:75496800-75498800	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr16:75497000-75497800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
13	chr16:75497000-75497800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr16:75497000-75497800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr16:75497000-75497800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr16:75497000-75497800	Flanking Active TSS	Liver	Liver
17	chr16:75497000-75497800	Flanking Active TSS	Fetal Muscle Leg	muscle
18	chr16:75497000-75498000	Active TSS	Brain Germinal Matrix	brain
19	chr16:75497000-75498200	Flanking Active TSS	Primary hematopoietic stem cells	blood
20	chr16:75497000-75498200	Active TSS	Right Atrium	heart
21	chr16:75497000-75498400	Active TSS	Fetal Intestine Large	intestine
22	chr16:75497000-75498800	Active TSS	H1 Cell Line	embryonic stem cell
23	chr16:75497000-75498800	Active TSS	iPS-18 Cell Line	embryonic stem cell
24	chr16:75497000-75498800	Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr16:75497000-75498800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr16:75497000-75498800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr16:75497000-75498800	Active TSS	Colonic Mucosa	Colon
28	chr16:75497000-75498800	Active TSS	Fetal Intestine Small	intestine
29	chr16:75497000-75498800	Active TSS	NHLF	lung
30	chr16:75497000-75499000	Active TSS	ES-I3 Cell Line	embryonic stem cell
31	chr16:75497000-75499000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr16:75497000-75499000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr16:75497000-75499000	Active TSS	Stomach Smooth Muscle	stomach
34	chr16:75497000-75499200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr16:75497200-75497800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
36	chr16:75497200-75497800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
37	chr16:75497200-75497800	Flanking Active TSS	Adipose Nuclei	Adipose
38	chr16:75497200-75497800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
39	chr16:75497200-75497800	Flanking Active TSS	Fetal Muscle Trunk	muscle
40	chr16:75497200-75498000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
41	chr16:75497200-75498000	Active TSS	HepG2	liver
42	chr16:75497200-75498200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr16:75497200-75498600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr16:75497200-75498600	Active TSS	iPS-15b Cell Line	embryonic stem cell
45	chr16:75497200-75498600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr16:75497200-75498600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr16:75497200-75498600	Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr16:75497200-75498600	Active TSS	NHDF-Ad	bronchial
49	chr16:75497200-75498800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr16:75497200-75498800	Active TSS	H9 Cell Line	embryonic stem cell

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