Variant report

Variant	rs73532587
Chromosome Location	chr16:30382291-30382292
allele	A/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	chr16:30381702-30382849	PBDE	blood:	n/a	n/a
2	MAFK	chr16:30381740-30382564	IMR90	lung:	n/a	n/a
3	MAX	chr16:30381418-30382609	HepG2	liver:	n/a	chr16:30381934-30381944 chr16:30381735-30381745
4	TAF1	chr16:30382150-30382821	ECC-1	luminal epithelium:	n/a	n/a
5	CREB1	chr16:30381691-30382668	ECC-1	luminal epithelium:	n/a	n/a
6	MXI1	chr16:30379257-30383440	SK-N-SH	brain:	n/a	n/a
7	GABPA	chr16:30381438-30382685	HepG2	liver:	n/a	chr16:30381825-30381834 chr16:30381773-30381782 chr16:30381823-30381837 chr16:30381771-30381782 chr16:30381820-30381834 chr16:30381934-30381943 chr16:30381768-30381782 chr16:30381771-30381785
8	CBX3	chr16:30381901-30382711	K562	blood:	n/a	n/a
9	RELA	chr16:30381979-30382684	GM19099	blood:	n/a	n/a
10	SP4	chr16:30381673-30382396	H1-hESC	embryonic stem cell:	n/a	chr16:30382347-30382363 chr16:30381931-30381947 chr16:30381728-30381744
11	SRF	chr16:30382155-30382472	K562	blood:	n/a	n/a
12	STAT3	chr16:30381940-30382389	MCF10A-Er-Src	breast:	n/a	n/a
13	CREB1	chr16:30381657-30382628	H1-hESC	embryonic stem cell:	n/a	n/a
14	TEAD4	chr16:30382015-30382535	HepG2	liver:	n/a	n/a
15	SIN3A	chr16:30380707-30382715	H1-hESC	embryonic stem cell:	n/a	n/a
16	IRF3	chr16:30381738-30382628	GM12878	blood:	n/a	chr16:30381933-30381947 chr16:30382154-30382168 chr16:30382385-30382394 chr16:30382563-30382577 chr16:30382349-30382363 chr16:30382443-30382452
17	SRF	chr16:30381457-30382924	HCT-116	colon:	n/a	chr16:30381934-30381944
18	POLR2A	chr16:30382094-30382946	H1-neurons	neurons:	n/a	n/a
19	SRF	chr16:30381757-30382591	HepG2	liver:	n/a	chr16:30381934-30381944
20	YY1	chr16:30382223-30382740	HepG2	liver:	n/a	chr16:30382603-30382614 chr16:30382315-30382331 chr16:30382478-30382492
21	MAFK	chr16:30381907-30382584	K562	blood:	n/a	n/a
22	PAX5	chr16:30381621-30382807	GM12878	blood:	n/a	n/a
23	NRF1	chr16:30381587-30382583	GM12878	blood:	n/a	chr16:30381823-30381834 chr16:30381825-30381834 chr16:30381773-30381782 chr16:30381801-30381812 chr16:30381823-30381837 chr16:30381771-30381782 chr16:30381820-30381834 chr16:30381934-30381943 chr16:30381768-30381782 chr16:30381771-30381785
24	PRDM1	chr16:30381805-30382358	Hela-S3	cervix:	n/a	n/a
25	SRF	chr16:30382066-30382534	K562	blood:	n/a	n/a
26	IRF3	chr16:30381795-30382612	Hela-S3	cervix:	n/a	chr16:30381933-30381947 chr16:30382154-30382168 chr16:30382385-30382394 chr16:30382563-30382577 chr16:30382349-30382363 chr16:30382443-30382452
27	USF1	chr16:30382037-30382592	A549	lung:	n/a	n/a
28	FOXM1	chr16:30381822-30382596	GM12878	blood:	n/a	n/a
29	HEY1	chr16:30382244-30382862	HepG2	liver:	n/a	chr16:30382602-30382617
30	GABPA	chr16:30381683-30382749	SK-N-SH	brain:	n/a	chr16:30381825-30381834 chr16:30381773-30381782 chr16:30381823-30381837 chr16:30381771-30381782 chr16:30381820-30381834 chr16:30381934-30381943 chr16:30381768-30381782 chr16:30381771-30381785
31	TBP	chr16:30381916-30382795	GM12878	blood:	n/a	n/a
32	SRF	chr16:30382164-30382648	GM12878	blood:	n/a	n/a
33	TBP	chr16:30381803-30382632	HepG2	liver:	n/a	n/a
34	NFYA	chr16:30381661-30382767	Hela-S3	cervix:	n/a	chr16:30382587-30382599 chr16:30382383-30382398 chr16:30382051-30382069 chr16:30382440-30382452 chr16:30382588-30382603 chr16:30382588-30382603 chr16:30382385-30382395 chr16:30382590-30382600 chr16:30382443-30382453 chr16:30382441-30382455 chr16:30382082-30382094 chr16:30382176-30382191 chr16:30382383-30382398 chr16:30382441-30382456 chr16:30382002-30382016 chr16:30382441-30382456 chr16:30382200-30382214 chr16:30382588-30382602
35	FOXA1	chr16:30382088-30382581	T-47D	breast:	n/a	n/a
36	CREB1	chr16:30381792-30382679	ECC-1	luminal epithelium:	n/a	n/a
37	SMC3	chr16:30382131-30382526	HepG2	liver:	n/a	chr16:30382478-30382488
38	ELK1	chr16:30382228-30382506	K562	blood:	n/a	n/a
39	USF1	chr16:30382245-30382527	SK-N-SH_RA	brain:	n/a	n/a
40	POLR2A	chr16:30382207-30382684	HCT-116	colon:	n/a	n/a
41	SP1	chr16:30381571-30382796	A549	lung:	n/a	chr16:30382351-30382360 chr16:30382589-30382610 chr16:30382563-30382575 chr16:30382565-30382574 chr16:30382177-30382198 chr16:30382346-30382360 chr16:30381935-30381944 chr16:30381934-30381944 chr16:30381933-30381945 chr16:30382003-30382024 chr16:30382563-30382575 chr16:30382350-30382359 chr16:30382349-30382361 chr16:30382560-30382574 chr16:30382564-30382573 chr16:30382130-30382144 chr16:30381934-30381944 chr16:30382349-30382361 chr16:30381933-30381945 chr16:30382201-30382222 chr16:30381735-30381749 chr16:30382052-30382073 chr16:30381729-30381743 chr16:30381934-30381943
42	YY1	chr16:30382163-30382671	SK-N-SH_RA	brain:	n/a	chr16:30382603-30382614 chr16:30382315-30382331 chr16:30382478-30382492
43	SP2	chr16:30381645-30382799	HepG2	liver:	n/a	chr16:30382005-30382015 chr16:30382265-30382288 chr16:30382427-30382450 chr16:30382179-30382189 chr16:30382150-30382165 chr16:30382203-30382213 chr16:30382563-30382572 chr16:30382444-30382454
44	FOXA2	chr16:30382072-30382423	HepG2	liver:	n/a	n/a
45	GABPA	chr16:30381697-30382775	MCF-7	breast:	n/a	chr16:30381825-30381834 chr16:30381773-30381782 chr16:30381823-30381837 chr16:30381771-30381782 chr16:30381820-30381834 chr16:30381934-30381943 chr16:30381768-30381782 chr16:30381771-30381785
46	MYC	chr16:30381719-30382585	MCF10A-Er-Src	breast:	n/a	chr16:30381934-30381944 chr16:30381735-30381745
47	MAFK	chr16:30381902-30382567	HepG2	liver:	n/a	n/a
48	POLR2A	chr16:30382236-30382984	GM12892	blood:	n/a	n/a
49	CREB1	chr16:30381548-30382813	GM12878	blood:	n/a	n/a
50	NFYA	chr16:30381720-30382757	GM12878	blood:	n/a	chr16:30382587-30382599 chr16:30382383-30382398 chr16:30382051-30382069 chr16:30382440-30382452 chr16:30382588-30382603 chr16:30382588-30382603 chr16:30382385-30382395 chr16:30382590-30382600 chr16:30382443-30382453 chr16:30382441-30382455 chr16:30382082-30382094 chr16:30382176-30382191 chr16:30382383-30382398 chr16:30382441-30382456 chr16:30382002-30382016 chr16:30382441-30382456 chr16:30382200-30382214 chr16:30382588-30382602

No.	Distal block	Cell Line	Cell type
1	chr16:30381749..30384813-chr16:30709284..30711839,3	MCF-7	breast:
2	chr16:30380765..30382933-chr16:30403703..30406768,3	K562	blood:
3	chr16:30381703..30382505-chr16:30456763..30457379,2	K562	blood:
4	chr16:30381262..30384231-chr16:30661276..30663868,2	MCF-7	breast:
5	chr16:30376477..30383094-chr16:30415979..30420163,8	MCF-7	breast:
6	chr16:30381117..30384208-chr16:30417593..30420362,3	MCF-7	breast:
7	chr16:30381426..30383001-chr16:30455584..30457801,2	MCF-7	breast:
8	chr16:30379558..30384763-chr16:30404117..30407449,5	MCF-7	breast:
9	chr16:30368801..30385970-chr16:30403825..30413311,30	MCF-7	breast:
10	chr16:30101858..30103931-chr16:30381450..30384176,2	K562	blood:
11	chr16:30381512..30383944-chr16:30455828..30458052,2	K562	blood:
12	chr16:30196751..30201052-chr16:30379113..30382636,3	MCF-7	breast:
13	chr16:30376934..30383374-chr16:30417165..30421108,8	K562	blood:
14	chr16:30378594..30387256-chr16:30387352..30391288,21	MCF-7	breast:
15	chr16:30380806..30383330-chr16:30405774..30407377,2	K562	blood:
16	chr1:27718866..27719686-chr16:30381542..30382345,2	Hela-S3	cervix:

Variant related genes	Relation type
TBC1D10B	TF binding region
MYLPF	TF binding region
ENSG00000261840	Chromatin interaction
ENSG00000080603	Chromatin interaction
ENSG00000149922	Chromatin interaction
ENSG00000156858	Chromatin interaction
ENSG00000180209	Chromatin interaction
ENSG00000179965	Chromatin interaction
ENSG00000102879	Chromatin interaction
ENSG00000180096	Chromatin interaction
ENSG00000181773	Chromatin interaction
ENSG00000180035	Chromatin interaction
ENSG00000179918	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs13330462	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13335932	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28404428	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4072354	1.00[ASN][1000 genomes]
rs4341758	1.00[ASN][1000 genomes]
rs9926426	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9926923	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9928218	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065915	chr16:29967090-30486120	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	229 gene(s)	inside rSNPs	diseases
2	nsv542897	chr16:29967090-30486120	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	229 gene(s)	inside rSNPs	diseases
3	esv2758420	chr16:30073955-30383280	Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	140 gene(s)	inside rSNPs	diseases
4	esv2758642	chr16:30073955-30383280	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	140 gene(s)	inside rSNPs	diseases
5	nsv1056897	chr16:30363683-30457504	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	88 gene(s)	inside rSNPs	diseases
6	nsv905724	chr16:30368591-30438930	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
7	nsv532531	chr16:30370550-30581820	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	113 gene(s)	inside rSNPs	diseases
8	nsv827612	chr16:30371538-30429862	Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
9	esv1794891	chr16:30376269-30382642	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
10	esv1795117	chr16:30376269-30382642	Flanking Active TSS Genic enhancers Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
11	esv1803705	chr16:30376269-30382642	Genic enhancers Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
12	esv1791873	chr16:30376959-30382642	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
13	esv1801199	chr16:30376959-30382642	Genic enhancers Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
14	nsv905725	chr16:30376959-30420851	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
15	esv1794103	chr16:30380486-30382642	Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
16	esv1795874	chr16:30380970-30382642	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
17	esv1796627	chr16:30380970-30382642	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
18	esv1838493	chr16:30381050-30382642	Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
19	esv1802604	chr16:30381072-30382642	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
20	esv1793548	chr16:30381174-30382642	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
21	esv1799757	chr16:30381174-30382642	Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
22	esv1834391	chr16:30381174-30382642	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
23	esv15257	chr16:30382003-30382733	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30378800-30382800	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr16:30379000-30383000	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr16:30379400-30382800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr16:30379400-30382800	Active TSS	Ovary	ovary
5	chr16:30379600-30382400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr16:30379600-30382400	Active TSS	HMEC	breast
7	chr16:30379600-30382400	Active TSS	HSMM	muscle
8	chr16:30379600-30382600	Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr16:30379600-30382600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr16:30379600-30382600	Active TSS	HSMMtube	muscle
11	chr16:30379600-30382800	Active TSS	Psoas Muscle	Psoas
12	chr16:30379600-30382800	Active TSS	NHLF	lung
13	chr16:30379800-30382600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr16:30379800-30382600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr16:30379800-30383200	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr16:30380000-30382400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr16:30380200-30382600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr16:30380200-30382600	Active TSS	Sigmoid Colon	Sigmoid Colon
19	chr16:30380200-30382800	Active TSS	Aorta	Aorta
20	chr16:30380200-30382800	Active TSS	Left Ventricle	heart
21	chr16:30380400-30382400	Active TSS	Thymus	Thymus
22	chr16:30380400-30382400	Active TSS	NHEK	skin
23	chr16:30380400-30382600	Active TSS	Primary T helper naive cells from peripheral blood	blood
24	chr16:30380400-30382600	Active TSS	Brain Angular Gyrus	brain
25	chr16:30380400-30382600	Active TSS	Brain Cingulate Gyrus	brain
26	chr16:30380400-30382800	Active TSS	H9 Cell Line	embryonic stem cell
27	chr16:30380400-30382800	Active TSS	Fetal Brain Female	brain
28	chr16:30380400-30383000	Active TSS	iPS-15b Cell Line	embryonic stem cell
29	chr16:30380600-30382600	Active TSS	Primary T helper cells PMA-I stimulated	--
30	chr16:30380600-30382600	Active TSS	Brain Inferior Temporal Lobe	brain
31	chr16:30380600-30382800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr16:30380600-30382800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr16:30380600-30382800	Active TSS	Esophagus	oesophagus
34	chr16:30380600-30382800	Active TSS	Lung	lung
35	chr16:30380600-30383000	Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr16:30380600-30383000	Active TSS	Right Ventricle	heart
37	chr16:30380800-30382400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr16:30380800-30382600	Active TSS	Brain Germinal Matrix	brain
39	chr16:30380800-30382600	Active TSS	Skeletal Muscle Male	skeletal muscle
40	chr16:30380800-30382600	Active TSS	Hela-S3	cervix
41	chr16:30380800-30382800	Active TSS	Brain Anterior Caudate	brain
42	chr16:30380800-30382800	Active TSS	Gastric	stomach
43	chr16:30380800-30383000	Active TSS	iPS-20b Cell Line	embryonic stem cell
44	chr16:30381000-30382400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr16:30381000-30382400	Weak transcription	Fetal Brain Male	brain
46	chr16:30381000-30382400	Active TSS	HUVEC	blood vessel
47	chr16:30381000-30382400	Active TSS	Osteobl	bone
48	chr16:30381000-30382600	Active TSS	H1 Cell Line	embryonic stem cell
49	chr16:30381000-30382600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr16:30381000-30382600	Active TSS	Primary hematopoietic stem cells short term culture	blood

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