Variant report

Variant	rs71391480
Chromosome Location	chr16:73093232-73093233
allele	-/AC
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	chr16:73092640-73093259	PFSK-1	brain:	n/a	n/a
2	POLR2A	chr16:73085684-73094561	H1-neurons	neurons:	n/a	n/a
3	GTF2F1	chr16:73092949-73093274	Hela-S3	cervix:	n/a	n/a
4	SMC3	chr16:73092880-73093348	Hela-S3	cervix:	n/a	n/a
5	SIN3AK20	chr16:73093121-73093354	A549	lung:	n/a	n/a
6	RCOR1	chr16:73092994-73093371	Hela-S3	cervix:	n/a	n/a
7	RFX5	chr16:73092899-73093363	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr16:73092920-73093504	HUVEC	blood vessel:	n/a	n/a
9	E2F4	chr16:73092856-73093429	MCF10A-Er-Src	breast:	n/a	chr16:73092996-73093005
10	POLR2A	chr16:73092148-73093326	Hela-S3	cervix:	n/a	n/a
11	YY1	chr16:73092749-73093353	SK-N-SH_RA	brain:	n/a	n/a
12	EP300	chr16:73092838-73093521	A549	lung:	n/a	chr16:73093395-73093409 chr16:73093368-73093382
13	ZKSCAN1	chr16:73093137-73093346	Hela-S3	cervix:	n/a	n/a
14	MYC	chr16:73092876-73093417	MCF10A-Er-Src	breast:	n/a	chr16:73092997-73093007
15	ZNF263	chr16:73092842-73093362	HEK293-T-REx	kidney:	n/a	n/a
16	TAF1	chr16:73092610-73093358	H1-neurons	neurons:	n/a	n/a
17	POLR2A	chr16:73092729-73093276	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr16:73093204-73093312	A549	lung:	n/a	n/a
19	MAX	chr16:73092806-73093329	Hela-S3	cervix:	n/a	chr16:73092997-73093007
20	RAD21	chr16:73092879-73093250	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr16:73086786-73093402	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr16:73092912-73093348	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr16:73093207-73093337	A549	lung:	n/a	n/a
24	POLR2A	chr16:73093211-73093277	HepG2	liver:	n/a	n/a
25	MAX	chr16:73092787-73093251	ECC-1	luminal epithelium:	n/a	chr16:73092997-73093007
26	MAX	chr16:73092651-73093436	A549	lung:	n/a	chr16:73092997-73093007
27	NRF1	chr16:73092686-73093975	SK-N-SH	brain:	n/a	chr16:73092995-73093006 chr16:73092995-73093004 chr16:73092744-73092753 chr16:73092992-73093006
28	BRCA1	chr16:73092944-73093333	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr16:73092796-73093250	SK-N-SH	brain:	n/a	n/a
30	MAFK	chr16:73092906-73093337	Hela-S3	cervix:	n/a	n/a
31	POU2F2	chr16:73093149-73093367	GM12891	blood:	n/a	n/a
32	TCF7L2	chr16:73091484-73093360	HCT-116	colon:	n/a	n/a
33	RAD21	chr16:73092832-73093425	SK-N-SH_RA	brain:	n/a	n/a
34	RAD21	chr16:73092888-73093383	SK-N-SH_RA	brain:	n/a	n/a
35	WRNIP1	chr16:73093214-73093331	GM12878	blood:	n/a	n/a
36	TAF1	chr16:73092628-73093448	H1-neurons	neurons:	n/a	n/a
37	CHD1	chr16:73084743-73093728	IMR90	lung:	n/a	chr16:73092049-73092059 chr16:73091379-73091389 chr16:73092358-73092368 chr16:73091670-73091680 chr16:73087450-73087460 chr16:73087960-73087970
38	HDAC2	chr16:73092780-73093421	MCF-7	breast:	n/a	chr16:73093369-73093383 chr16:73093374-73093388 chr16:73092920-73092934 chr16:73093365-73093379 chr16:73092924-73092938 chr16:73092918-73092932 chr16:73092919-73092933 chr16:73093366-73093380 chr16:73093370-73093384
39	POLR2A	chr16:73086460-73093544	H1-neurons	neurons:	n/a	n/a
40	MAX	chr16:73092651-73093583	A549	lung:	n/a	chr16:73092997-73093007
41	POLR2A	chr16:73093053-73095808	MCF10A-Er-Src	breast:	n/a	n/a
42	RAD21	chr16:73092176-73093928	IMR90	lung:	n/a	n/a
43	SP1	chr16:73092826-73093432	A549	lung:	n/a	chr16:73093099-73093110 chr16:73093081-73093092
44	TCF7L2	chr16:73092931-73093396	Hela-S3	cervix:	n/a	n/a
45	MYC	chr16:73092855-73093509	MCF10A-Er-Src	breast:	n/a	chr16:73092997-73093007
46	HA-E2F1	chr16:73092967-73093395	MCF-7	breast:	n/a	chr16:73092996-73093005
47	MAZ	chr16:73092975-73093312	Hela-S3	cervix:	n/a	n/a
48	POLR2A	chr16:73092844-73093298	MCF-7	breast:	n/a	n/a
49	SP1	chr16:73092749-73093394	A549	lung:	n/a	chr16:73093099-73093110 chr16:73093081-73093092
50	KAP1	chr16:73093038-73093331	U2OS	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:73090588..73093412-chr16:74330617..74333727,3	MCF-7	breast:
2	chr16:73018202..73027072-chr16:73088249..73094904,11	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272250	TF binding region
ENSG00000271009	TF binding region
ZFHX3	TF binding region
ENSG00000261404	Chromatin interaction
ENSG00000221799	Chromatin interaction
ENSG00000103035	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv906898	chr16:73017684-73128146	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv827730	chr16:73066699-73115642	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv827732	chr16:73069343-73116594	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv827733	chr16:73075114-73103721	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	esv1815924	chr16:73085286-73105415	Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	esv3338026	chr16:73089651-73094249	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv827734	chr16:73090810-73096182	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	esv3340230	chr16:73090976-73094024	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	esv3330340	chr16:73091301-73093599	Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
10	esv3403469	chr16:73091451-73093349	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
11	esv1837302	chr16:73091679-73102456	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
12	esv1612457	chr16:73093231-73093233	Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
13	esv2336202	chr16:73093232-73093234	Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:73087800-73099200	Active TSS	Aorta	Aorta
2	chr16:73088200-73095200	Active TSS	Right Atrium	heart
3	chr16:73089200-73093400	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr16:73089600-73093400	Active TSS	Brain Germinal Matrix	brain
5	chr16:73089800-73093400	Active TSS	Left Ventricle	heart
6	chr16:73089800-73093600	Active TSS	Fetal Muscle Trunk	muscle
7	chr16:73089800-73093600	Active TSS	Right Ventricle	heart
8	chr16:73089800-73094200	Active TSS	Psoas Muscle	Psoas
9	chr16:73089800-73094800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr16:73090000-73094200	Active TSS	NHLF	lung
11	chr16:73090000-73095200	Active TSS	HSMM	muscle
12	chr16:73090200-73093600	Active TSS	Rectal Smooth Muscle	rectum
13	chr16:73090200-73094000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr16:73090400-73093400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr16:73090400-73093400	Active TSS	Muscle Satellite Cultured Cells	--
16	chr16:73090400-73093600	Active TSS	Ovary	ovary
17	chr16:73090800-73093400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr16:73090800-73093400	Active TSS	Duodenum Mucosa	Duodenum
19	chr16:73090800-73093400	Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr16:73090800-73093600	Active TSS	Colonic Mucosa	Colon
21	chr16:73090800-73093800	Active TSS	A549	lung
22	chr16:73090800-73094000	Active TSS	Stomach Smooth Muscle	stomach
23	chr16:73090800-73094200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr16:73090800-73094200	Active TSS	Skeletal Muscle Male	skeletal muscle
25	chr16:73090800-73094200	Active TSS	HSMMtube	muscle
26	chr16:73091000-73093400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr16:73091000-73093400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr16:73091000-73093400	Active TSS	Fetal Intestine Small	intestine
29	chr16:73091000-73093400	Active TSS	Fetal Stomach	stomach
30	chr16:73091000-73094000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr16:73091000-73094200	Active TSS	Skeletal Muscle Female	skeletal muscle
32	chr16:73091200-73093400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr16:73091200-73093400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr16:73091200-73093400	Active TSS	Colon Smooth Muscle	Colon
35	chr16:73091200-73093400	Active TSS	Pancreas	Pancrea
36	chr16:73091200-73093600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr16:73091200-73093600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr16:73091200-73093600	Active TSS	Osteobl	bone
39	chr16:73091400-73093400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr16:73091400-73093400	Active TSS	H9 Cell Line	embryonic stem cell
41	chr16:73091400-73093400	Active TSS	Esophagus	oesophagus
42	chr16:73091400-73093600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr16:73091400-73093600	Active TSS	HMEC	breast
44	chr16:73091800-73093400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr16:73092600-73093600	Active TSS	Brain Substantia Nigra	brain
46	chr16:73092800-73093400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
47	chr16:73092800-73093400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
48	chr16:73092800-73093400	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
49	chr16:73092800-73093400	Flanking Active TSS	Primary hematopoietic stem cells	blood
50	chr16:73092800-73093400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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