Variant report

Variant	rs373786586
Chromosome Location	chr16:80575025-80575026
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	SMC3	chr16:80574337-80575125	Hela-S3	cervix:	n/a	chr16:80574587-80574601 chr16:80575095-80575102 chr16:80575076-80575086
2	POLR2A	chr16:80574316-80575027	U87	brain:	n/a	n/a
3	E2F6	chr16:80574367-80575094	K562	blood:	n/a	chr16:80574957-80574966 chr16:80574845-80574854 chr16:80574706-80574717
4	ELF1	chr16:80574473-80575128	SK-N-SH	brain:	n/a	n/a
5	HCFC1	chr16:80574413-80575028	K562	blood:	n/a	n/a
6	FOXA2	chr16:80574699-80575039	HepG2	liver:	n/a	n/a
7	SIN3AK20	chr16:80574633-80575105	SK-N-SH	brain:	n/a	n/a
8	POLR2A	chr16:80574481-80575091	HUVEC	blood vessel:	n/a	n/a
9	FOXA1	chr16:80574655-80575103	T-47D	breast:	n/a	n/a
10	RCOR1	chr16:80574392-80575026	Hela-S3	cervix:	n/a	n/a
11	HDAC2	chr16:80574290-80575288	MCF-7	breast:	n/a	chr16:80574838-80574847
12	POLR2A	chr16:80574323-80575142	Hela-S3	cervix:	n/a	n/a
13	MAX	chr16:80574230-80575172	HepG2	liver:	n/a	n/a
14	ELF1	chr16:80574332-80575104	K562	blood:	n/a	n/a
15	POLR2A	chr16:80574402-80575034	HL-60	blood:	n/a	n/a
16	MYBL2	chr16:80574535-80575072	HepG2	liver:	n/a	n/a
17	POLR2A	chr16:80574165-80575113	GM12892	blood:	n/a	n/a
18	POLR2A	chr16:80574338-80575136	MCF-7	breast:	n/a	n/a
19	SIN3AK20	chr16:80574716-80575108	K562	blood:	n/a	n/a
20	SIN3A	chr16:80574520-80575068	GM12878	blood:	n/a	n/a
21	GABPA	chr16:80574300-80575106	HL-60	blood:	n/a	chr16:80574841-80574855 chr16:80574844-80574853 chr16:80574844-80574855 chr16:80574844-80574858
22	POLR2A	chr16:80574230-80575036	GM12892	blood:	n/a	n/a
23	SIN3A	chr16:80574392-80575304	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr16:80574407-80575164	H1-neurons	neurons:	n/a	n/a
25	MAX	chr16:80574372-80575031	K562	blood:	n/a	n/a
26	FOXP2	chr16:80574672-80575060	PFSK-1	brain:	n/a	n/a
27	ATF3	chr16:80574509-80575067	A549	lung:	n/a	n/a
28	ELF1	chr16:80574258-80575301	MCF-7	breast:	n/a	n/a
29	POLR2A	chr16:80574304-80575104	GM19193	blood:	n/a	n/a
30	REST	chr16:80574308-80575425	H1-neurons	neurons:	n/a	chr16:80574809-80574822 chr16:80575088-80575101
31	E2F6	chr16:80574148-80575095	A549	lung:	n/a	chr16:80574957-80574966 chr16:80574845-80574854 chr16:80574706-80574717
32	GABPA	chr16:80574171-80575128	A549	lung:	n/a	chr16:80574841-80574855 chr16:80574844-80574853 chr16:80574844-80574855 chr16:80574844-80574858
33	GABPA	chr16:80574584-80575028	K562	blood:	n/a	chr16:80574841-80574855 chr16:80574844-80574853 chr16:80574844-80574855 chr16:80574844-80574858
34	SIN3AK20	chr16:80574739-80575048	HepG2	liver:	n/a	n/a
35	GABPA	chr16:80574361-80575093	K562	blood:	n/a	chr16:80574841-80574855 chr16:80574844-80574853 chr16:80574844-80574855 chr16:80574844-80574858
36	MAX	chr16:80574356-80575057	SK-N-SH	brain:	n/a	n/a
37	CHD1	chr16:80574104-80575329	IMR90	lung:	n/a	n/a
38	RCOR1	chr16:80574465-80575090	K562	blood:	n/a	n/a
39	POLR2A	chr16:80574365-80575116	HUVEC	blood vessel:	n/a	n/a
40	ELF1	chr16:80574326-80575065	A549	lung:	n/a	n/a
41	NRF1	chr16:80574331-80575044	SK-N-SH	brain:	n/a	chr16:80574841-80574855 chr16:80574844-80574853 chr16:80574844-80574855 chr16:80574843-80574854 chr16:80574844-80574858
42	BHLHE40	chr16:80574377-80575027	K562	blood:	n/a	n/a
43	GABPA	chr16:80574443-80575030	SK-N-SH	brain:	n/a	chr16:80574841-80574855 chr16:80574844-80574853 chr16:80574844-80574855 chr16:80574844-80574858
44	SIN3AK20	chr16:80574747-80575058	PANC-1	pancreas:	n/a	n/a
45	FOXA1	chr16:80574613-80575129	HepG2	liver:	n/a	n/a
46	ELK1	chr16:80574500-80575057	Hela-S3	cervix:	n/a	chr16:80574536-80574545 chr16:80574536-80574545
47	MAX	chr16:80574301-80575044	Hela-S3	cervix:	n/a	n/a
48	POLR2A	chr16:80574370-80575068	A549	lung:	n/a	n/a
49	GABPA	chr16:80574319-80575117	SK-N-SH	brain:	n/a	chr16:80574841-80574855 chr16:80574844-80574853 chr16:80574844-80574855 chr16:80574844-80574858
50	SIN3AK20	chr16:80574611-80575068	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:80575018-80575068	HepG2	liver:	n/a
2	chr16:80575018-80575068	ProgFib	skin:	n/a
3	chr16:80575018-80575068	T-47D	breast:	n/a
4	chr16:80575018-80575068	HCPEpiC	choroid plexus:	n/a
5	chr16:80575018-80575068	GM12878	blood:	n/a
6	chr16:80575018-80575068	GM12892	blood:	n/a
7	chr16:80575018-80575068	BJ	skin:	n/a
8	chr16:80575018-80575068	SK-N-MC	brain:	n/a
9	chr16:80575018-80575068	GM06990	blood:	n/a
10	chr16:80575018-80575068	NHBE	bronchial:	n/a
11	chr16:80575018-80575068	IMR90	lung:	fetal
12	chr16:80575018-80575068	HRE	kidney:	n/a
13	chr16:80575018-80575068	SK-N-SH	brain:	n/a
14	chr16:80575018-80575068	AoSMC	blood vessel:	n/a
15	chr16:80575018-80575068	HIPEpiC	eye:	n/a
16	chr16:80575018-80575068	SKMC	muscle:	n/a
17	chr16:80575018-80575068	HL-60	blood:	n/a
18	chr16:80575018-80575068	PrEC	prostate:	n/a
19	chr16:80575018-80575068	Hela-S3	cervix:	n/a
20	chr16:80575018-80575068	HAEpiC	amniotic membrane:	n/a
21	chr16:80575018-80575068	PANC-1	pancreas:	n/a
22	chr16:80575018-80575068	H1-hESC	embryonic stem cell:	embryo
23	chr16:80575018-80575068	AG09309	skin:	n/a
24	chr16:80575018-80575068	RPTEC	kidney:	n/a
25	chr16:80575018-80575068	SAEC	small airway:	n/a
26	chr16:80575018-80575068	GM19239	blood:	n/a
27	chr16:80575018-80575068	SK-N-SH_RA	brain:	n/a
28	chr16:80575018-80575068	Jurkat	blood:	n/a
29	chr16:80575018-80575068	NHDF-neo	bronchial:	n/a
30	chr16:80575018-80575068	MCF10A-Er-Src	breast:	n/a
31	chr16:80575018-80575068	NH-A	brain:	n/a
32	chr16:80575018-80575068	HNPCEpiC	eye:	n/a
33	chr16:80575018-80575068	HRPEpiC	eye:	n/a
34	chr16:80575018-80575068	HUVEC	blood vessel:	n/a
35	chr16:80575018-80575068	Caco-2	colon:	n/a
36	chr16:80575018-80575068	AG10803	skin:	n/a
37	chr16:80575018-80575068	ovcar-3	ovarian:	n/a
38	chr16:80575018-80575068	HEK293	kidney:	embryo
39	chr16:80575018-80575068	HPAEpiC	pulmonary alveolar:	n/a
40	chr16:80575018-80575068	HMEC	breast:	n/a
41	chr16:80575018-80575068	LNCaP	prostate:	n/a
42	chr16:80575018-80575068	CMK	blood:	n/a
43	chr16:80575018-80575068	ECC-1	luminal epithelium:	n/a
44	chr16:80575018-80575068	A549	lung:	n/a
45	chr16:80575018-80575068	HCF	heart:	n/a
46	chr16:80575018-80575068	AG04449	skin:	fetal
47	chr16:80575018-80575068	U87	brain:	n/a
48	chr16:80575018-80575068	HRCEpiC	kidney:	n/a
49	chr16:80575018-80575068	HCT-116	colon:	n/a
50	chr16:80575018-80575068	NB4	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:80573239..80577400-chr16:80578381..80583465,6	MCF-7	breast:
2	chr16:80573192..80575392-chr16:80605742..80608359,2	MCF-7	breast:
3	chr16:80573487..80575142-chr16:80836688..80838672,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259867	TF binding region
DYNLRB2	TF binding region
ENSG00000259867	CpG island
DYNLRB2	CpG island
ENSG00000166446	Chromatin interaction
ENSG00000168589	Chromatin interaction
ENSG00000260737	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	nsv907001	chr16:80405292-80620611	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv833300	chr16:80475066-80601036	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv1060621	chr16:80532848-80980616	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	nsv542989	chr16:80532848-80980616	Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	esv3431284	chr16:80574770-80575066	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr16:80573800-80575400	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr16:80574000-80575200	Active TSS	Brain Hippocampus Middle	brain
3	chr16:80574000-80575200	Active TSS	K562	blood
4	chr16:80574000-80575400	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr16:80574000-80575400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr16:80574000-80575400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr16:80574000-80575400	Active TSS	Muscle Satellite Cultured Cells	--
8	chr16:80574000-80575400	Flanking Active TSS	Adipose Nuclei	Adipose
9	chr16:80574000-80575400	Active TSS	Right Atrium	heart
10	chr16:80574000-80575400	Active TSS	Stomach Smooth Muscle	stomach
11	chr16:80574000-80575600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr16:80574000-80575600	Active TSS	Brain Inferior Temporal Lobe	brain
13	chr16:80574000-80575600	Active TSS	HSMMtube	muscle
14	chr16:80574200-80575200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr16:80574200-80575200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
16	chr16:80574200-80575200	Active TSS	Skeletal Muscle Male	skeletal muscle
17	chr16:80574200-80575200	Flanking Bivalent TSS/Enh	HepG2	liver
18	chr16:80574200-80575400	Active TSS	H9 Cell Line	embryonic stem cell
19	chr16:80574200-80575400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr16:80574200-80575400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
21	chr16:80574200-80575400	Active TSS	Primary neutrophils fromperipheralblood	blood
22	chr16:80574200-80575400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
23	chr16:80574200-80575400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
24	chr16:80574200-80575400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr16:80574200-80575400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr16:80574200-80575400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr16:80574200-80575400	Active TSS	Colon Smooth Muscle	Colon
28	chr16:80574200-80575400	Active TSS	Fetal Brain Female	brain
29	chr16:80574200-80575400	Active TSS	Ovary	ovary
30	chr16:80574200-80575400	Active TSS	HSMM	muscle
31	chr16:80574200-80575400	Flanking Active TSS	HUVEC	blood vessel
32	chr16:80574200-80575400	Active TSS	NH-A	brain
33	chr16:80574200-80575400	Active TSS	NHDF-Ad	bronchial
34	chr16:80574200-80575400	Active TSS	NHLF	lung
35	chr16:80574200-80575600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr16:80574200-80575600	Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr16:80574200-80575800	Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr16:80574200-80575800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr16:80574200-80575800	Active TSS	Fetal Brain Male	brain
40	chr16:80574400-80575200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
41	chr16:80574400-80575200	Active TSS	HUES6 Cell Line	embryonic stem cell
42	chr16:80574400-80575200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr16:80574400-80575200	Flanking Active TSS	Primary hematopoietic stem cells	blood
44	chr16:80574400-80575200	Active TSS	Aorta	Aorta
45	chr16:80574400-80575200	Active TSS	Gastric	stomach
46	chr16:80574400-80575200	Active TSS	Small Intestine	intestine
47	chr16:80574400-80575200	Active TSS	Spleen	Spleen
48	chr16:80574400-80575400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr16:80574400-80575400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr16:80574400-80575400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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