Variant report

Variant	rs577468425
Chromosome Location	chr16:30381794-30381795
allele	G/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	MAX	chr16:30381651-30381904	K562	blood:	n/a	chr16:30381735-30381745
2	ZBTB7A	chr16:30381199-30381931	K562	blood:	n/a	n/a
3	SPI1	chr16:30381766-30382216	GM12891	blood:	n/a	chr16:30382130-30382143
4	POLR2A	chr16:30381702-30382849	PBDE	blood:	n/a	n/a
5	CCNT2	chr16:30381549-30381951	K562	blood:	n/a	n/a
6	YY1	chr16:30381231-30381922	GM12878	blood:	n/a	chr16:30381545-30381559
7	HMGN3	chr16:30381478-30381946	K562	blood:	n/a	n/a
8	NRF1	chr16:30381623-30382019	H1-hESC	embryonic stem cell:	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
9	MAFK	chr16:30381740-30382564	IMR90	lung:	n/a	n/a
10	MAX	chr16:30381418-30382609	HepG2	liver:	n/a	chr16:30381934-30381944 chr16:30381735-30381745
11	CREB1	chr16:30381691-30382668	ECC-1	luminal epithelium:	n/a	n/a
12	YY1	chr16:30381304-30381892	K562	blood:	n/a	chr16:30381545-30381559
13	MXI1	chr16:30379257-30383440	SK-N-SH	brain:	n/a	n/a
14	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
15	SP4	chr16:30381673-30382396	H1-hESC	embryonic stem cell:	n/a	chr16:30382347-30382363 chr16:30381931-30381947 chr16:30381728-30381744
16	POLR2A	chr16:30381476-30381928	Hela-S3	cervix:	n/a	n/a
17	CREB1	chr16:30381657-30382628	H1-hESC	embryonic stem cell:	n/a	n/a
18	GABPA	chr16:30381691-30382257	K562	blood:	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
19	SIN3A	chr16:30380707-30382715	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr16:30381432-30381931	GM18951	blood:	n/a	n/a
21	POLR2A	chr16:30381777-30381809	GM12878	blood:	n/a	n/a
22	TAF1	chr16:30381687-30381925	K562	blood:	n/a	n/a
23	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
24	SRF	chr16:30381457-30382924	HCT-116	colon:	n/a	chr16:30381934-30381944
25	SRF	chr16:30381757-30382591	HepG2	liver:	n/a	chr16:30381934-30381944
26	POLR2A	chr16:30381458-30382025	H1-neurons	neurons:	n/a	n/a
27	PAX5	chr16:30381621-30382807	GM12878	blood:	n/a	n/a
28	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
29	POLR2A	chr16:30381229-30381897	A549	lung:	n/a	n/a
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	POLR2A	chr16:30381670-30381962	Hela-S3	cervix:	n/a	n/a
32	NRF1	chr16:30381659-30382220	Hela-S3	cervix:	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
33	ELF1	chr16:30381447-30382039	K562	blood:	n/a	chr16:30381973-30381984
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	CREB1	chr16:30381792-30382679	ECC-1	luminal epithelium:	n/a	n/a
36	POLR2A	chr16:30381536-30382006	GM12878	blood:	n/a	n/a
37	POLR2A	chr16:30381410-30381930	K562	blood:	n/a	n/a
38	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
39	POLR2A	chr16:30381645-30381972	MCF10A-Er-Src	breast:	n/a	n/a
40	POLR2A	chr16:30381315-30382024	MCF-7	breast:	n/a	n/a
41	TAF1	chr16:30381661-30381955	Hela-S3	cervix:	n/a	n/a
42	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
43	CTCF	chr16:30381722-30381838	Kidney_OC	kidney:	n/a	n/a
44	E2F6	chr16:30381715-30382085	H1-hESC	embryonic stem cell:	n/a	chr16:30381859-30381870 chr16:30381772-30381781 chr16:30381824-30381833
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	POLR2A	chr16:30381330-30382060	HUVEC	blood vessel:	n/a	n/a
47	MYC	chr16:30381719-30382585	MCF10A-Er-Src	breast:	n/a	chr16:30381934-30381944 chr16:30381735-30381745
48	POLR2A	chr16:30381390-30382095	Hela-S3	cervix:	n/a	n/a
49	POLR2A	chr16:30381473-30381976	Gliobla	brain:	n/a	n/a
50	SIN3AK20	chr16:30380886-30382001	PANC-1	pancreas:	n/a	n/a

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	chr16:30374941..30377851-chr16:30378291..30382008,9	K562	blood:
4	chr16:30381703..30382505-chr16:30456763..30457379,2	K562	blood:
5	chr16:30381262..30384231-chr16:30661276..30663868,2	MCF-7	breast:
6	chr16:30381350..30382003-chr17:56708904..56709454,2	Hela-S3	cervix:
7	chr16:30376477..30383094-chr16:30415979..30420163,8	MCF-7	breast:
8	chr16:30381117..30384208-chr16:30417593..30420362,3	MCF-7	breast:
9	chr16:30381426..30383001-chr16:30455584..30457801,2	MCF-7	breast:
10	chr16:30379558..30384763-chr16:30404117..30407449,5	MCF-7	breast:
11	chr16:30368801..30385970-chr16:30403825..30413311,30	MCF-7	breast:
12	chr16:30101858..30103931-chr16:30381450..30384176,2	K562	blood:
13	chr16:30381512..30383944-chr16:30455828..30458052,2	K562	blood:
14	chr16:30196751..30201052-chr16:30379113..30382636,3	MCF-7	breast:
15	chr16:30376934..30383374-chr16:30417165..30421108,8	K562	blood:
16	chr16:30378594..30387256-chr16:30387352..30391288,21	MCF-7	breast:
17	chr16:30380806..30383330-chr16:30405774..30407377,2	K562	blood:
18	chr1:27718866..27719686-chr16:30381542..30382345,2	Hela-S3	cervix:

Variant related genes	Relation type
MYLPF	TF binding region
TBC1D10B	TF binding region
ENSG00000180035	Chromatin interaction
ENSG00000169221	Chromatin interaction
ENSG00000102879	Chromatin interaction
ENSG00000156858	Chromatin interaction
ENSG00000179918	Chromatin interaction
ENSG00000180209	Chromatin interaction
ENSG00000179965	Chromatin interaction
ENSG00000080603	Chromatin interaction
ENSG00000149922	Chromatin interaction
ENSG00000181773	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000261840	Chromatin interaction
ENSG00000180096	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

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	esv16720	chr16:30380994-30381833	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
19	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
20	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
21	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
22	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
23	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

No data

Chromatin state (count:126 , 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	chr16:30379600-30381800	Active TSS	Muscle Satellite Cultured Cells	--
6	chr16:30379600-30382400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr16:30379600-30382400	Active TSS	HMEC	breast
8	chr16:30379600-30382400	Active TSS	HSMM	muscle
9	chr16:30379600-30382600	Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr16:30379600-30382600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr16:30379600-30382600	Active TSS	HSMMtube	muscle
12	chr16:30379600-30382800	Active TSS	Psoas Muscle	Psoas
13	chr16:30379600-30382800	Active TSS	NHLF	lung
14	chr16:30379800-30382600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr16:30379800-30382600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr16:30379800-30383200	Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr16:30380000-30381800	Active TSS	Small Intestine	intestine
18	chr16:30380000-30382400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr16:30380200-30381800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr16:30380200-30382600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr16:30380200-30382600	Active TSS	Sigmoid Colon	Sigmoid Colon
22	chr16:30380200-30382800	Active TSS	Aorta	Aorta
23	chr16:30380200-30382800	Active TSS	Left Ventricle	heart
24	chr16:30380400-30381800	Active TSS	Rectal Smooth Muscle	rectum
25	chr16:30380400-30381800	Active TSS	NH-A	brain
26	chr16:30380400-30382400	Active TSS	Thymus	Thymus
27	chr16:30380400-30382400	Active TSS	NHEK	skin
28	chr16:30380400-30382600	Active TSS	Primary T helper naive cells from peripheral blood	blood
29	chr16:30380400-30382600	Active TSS	Brain Angular Gyrus	brain
30	chr16:30380400-30382600	Active TSS	Brain Cingulate Gyrus	brain
31	chr16:30380400-30382800	Active TSS	H9 Cell Line	embryonic stem cell
32	chr16:30380400-30382800	Active TSS	Fetal Brain Female	brain
33	chr16:30380400-30383000	Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr16:30380600-30381800	Transcr. at gene 5' and 3'	Right Atrium	heart
35	chr16:30380600-30382600	Active TSS	Primary T helper cells PMA-I stimulated	--
36	chr16:30380600-30382600	Active TSS	Brain Inferior Temporal Lobe	brain
37	chr16:30380600-30382800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr16:30380600-30382800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr16:30380600-30382800	Active TSS	Esophagus	oesophagus
40	chr16:30380600-30382800	Active TSS	Lung	lung
41	chr16:30380600-30383000	Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr16:30380600-30383000	Active TSS	Right Ventricle	heart
43	chr16:30380800-30382400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr16:30380800-30382600	Active TSS	Brain Germinal Matrix	brain
45	chr16:30380800-30382600	Active TSS	Skeletal Muscle Male	skeletal muscle
46	chr16:30380800-30382600	Active TSS	Hela-S3	cervix
47	chr16:30380800-30382800	Active TSS	Brain Anterior Caudate	brain
48	chr16:30380800-30382800	Active TSS	Gastric	stomach
49	chr16:30380800-30383000	Active TSS	iPS-20b Cell Line	embryonic stem cell
50	chr16:30381000-30381800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell

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