Variant report

Variant	rs73532601
Chromosome Location	chr16:30406588-30406589
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:449)
CpG islands
(count:0)
Chromatin interactive
region (count:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:449 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NANOG	chr16:30406474-30406918	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr16:30406313-30406931	K562	blood:	n/a	n/a
3	TAF1	chr16:30405653-30407431	H1-hESC	embryonic stem cell:	n/a	n/a
4	MBD4	chr16:30406387-30406854	HepG2	liver:	n/a	n/a
5	MYC	chr16:30406546-30406743	GM12878	blood:	n/a	n/a
6	TCF12	chr16:30406518-30406804	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr16:30405722-30406902	SK-N-SH	brain:	n/a	n/a
8	SP2	chr16:30406375-30406896	H1-hESC	embryonic stem cell:	n/a	n/a
9	CTBP2	chr16:30406532-30407299	H1-hESC	embryonic stem cell:	n/a	n/a
10	MXI1	chr16:30406527-30407290	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr16:30406498-30406855	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr16:30406413-30407147	NB4	blood:	n/a	n/a
13	RAD21	chr16:30406462-30407418	ECC-1	luminal epithelium:	n/a	chr16:30407025-30407037 chr16:30407025-30407035 chr16:30407023-30407036 chr16:30407020-30407039
14	SIX5	chr16:30406444-30406843	A549	lung:	n/a	n/a
15	ZBTB33	chr16:30406363-30406992	HCT-116	colon:	n/a	n/a
16	GTF2F1	chr16:30406380-30406825	H1-hESC	embryonic stem cell:	n/a	n/a
17	TRIM28	chr16:30406416-30406876	K562	blood:	n/a	n/a
18	E2F6	chr16:30406197-30406842	A549	lung:	n/a	n/a
19	BHLHE40	chr16:30406483-30406816	K562	blood:	n/a	n/a
20	CTCF	chr16:30406560-30406710	AG10803	skin:	n/a	n/a
21	GABPA	chr16:30406321-30406973	MCF-7	breast:	n/a	n/a
22	MYC	chr16:30406480-30407287	HepG2	liver:	n/a	n/a
23	CTCF	chr16:30406500-30406650	NHDF-neo	bronchial:	n/a	n/a
24	SP1	chr16:30406372-30406867	H1-hESC	embryonic stem cell:	n/a	chr16:30406395-30406409
25	ELF1	chr16:30406294-30407131	HepG2	liver:	n/a	chr16:30406724-30406737
26	POLR2A	chr16:30406351-30407456	HCT-116	colon:	n/a	n/a
27	ELF1	chr16:30406281-30407011	HCT-116	colon:	n/a	chr16:30406724-30406737
28	GABPA	chr16:30406419-30407351	HepG2	liver:	n/a	n/a
29	TAF1	chr16:30406293-30407235	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTCF	chr16:30406309-30407498	A549	lung:	n/a	chr16:30407022-30407035 chr16:30407019-30407037 chr16:30406917-30406930
31	MXI1	chr16:30406388-30407374	HepG2	liver:	n/a	n/a
32	CHD2	chr16:30406395-30406769	H1-hESC	embryonic stem cell:	n/a	n/a
33	RCOR1	chr16:30406483-30406695	K562	blood:	n/a	n/a
34	STAT3	chr16:30406544-30406609	MCF10A-Er-Src	breast:	n/a	n/a
35	SP2	chr16:30406391-30406933	K562	blood:	n/a	n/a
36	CTCF	chr16:30406480-30406630	AG04450	lung:	n/a	n/a
37	BHLHE40	chr16:30406472-30407137	HepG2	liver:	n/a	n/a
38	MXI1	chr16:30406250-30407665	IMR90	lung:	n/a	n/a
39	MAZ	chr16:30406506-30407452	GM12878	blood:	n/a	n/a
40	EP300	chr16:30406483-30406851	T-47D	breast:	n/a	n/a
41	HEY1	chr16:30406346-30406632	HepG2	liver:	n/a	n/a
42	POLR2A	chr16:30406386-30406945	PANC-1	pancreas:	n/a	n/a
43	MYC	chr16:30406461-30407206	MCF10A-Er-Src	breast:	n/a	n/a
44	BCLAF1	chr16:30406455-30407236	GM12878	blood:	n/a	chr16:30407013-30407026
45	HDAC2	chr16:30406500-30406901	K562	blood:	n/a	n/a
46	CTCF	chr16:30406566-30407219	K562	blood:	n/a	chr16:30407022-30407035 chr16:30407019-30407037 chr16:30406917-30406930
47	GABPA	chr16:30406315-30407037	HL-60	blood:	n/a	n/a
48	EGR1	chr16:30406532-30406838	GM12878	blood:	n/a	chr16:30406739-30406753
49	POLR2A	chr16:30406450-30406747	GM12891	blood:	n/a	n/a
50	MYC	chr16:30406469-30407411	K562	blood:	n/a	n/a

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:30374634..30377122-chr16:30405649..30407903,2	K562	blood:
2	chr1:91966304..91966898-chr16:30406443..30407227,2	Hela-S3	cervix:
3	chr16:30405548..30408419-chr16:30620470..30622922,2	MCF-7	breast:
4	chr16:30077266..30078952-chr16:30405580..30407147,2	MCF-7	breast:
5	chr16:30404931..30406633-chr16:30670446..30672250,2	MCF-7	breast:
6	chr16:30405344..30408453-chr16:30439632..30442076,3	MCF-7	breast:
7	chr16:30386182..30395144-chr16:30402818..30414477,44	MCF-7	breast:
8	chr16:30385968..30392864-chr16:30403786..30414800,30	MCF-7	breast:
9	chr16:30387676..30396507-chr16:30404234..30411930,28	K562	blood:
10	chr16:30393486..30397071-chr16:30402673..30407150,6	MCF-7	breast:
11	chr16:30405223..30408007-chr16:30567849..30569998,3	MCF-7	breast:
12	chr16:30405261..30407569-chr16:30455597..30457105,2	MCF-7	breast:
13	chr16:30364578..30368660-chr16:30404559..30407754,8	MCF-7	breast:
14	chr16:30345604..30348863-chr16:30403977..30407853,5	MCF-7	breast:
15	chr16:30406017..30408531-chr16:30454989..30457376,2	MCF-7	breast:
16	chr16:30368801..30385970-chr16:30403825..30413311,30	MCF-7	breast:
17	chr16:30405726..30407812-chr16:30662378..30664163,2	K562	blood:
18	chr16:30380806..30383330-chr16:30405774..30407377,2	K562	blood:
19	chr16:30366042..30367681-chr16:30406512..30408947,2	MCF-7	breast:
20	chr16:30380765..30382933-chr16:30403703..30406768,3	K562	blood:
21	chr16:30379558..30384763-chr16:30404117..30407449,5	MCF-7	breast:
22	chr16:30384243..30394929-chr16:30405602..30409736,14	K562	blood:

No data

Variant related genes	Relation type
ZNF48	TF binding region
SEPT1	TF binding region
ENSG00000156853	Chromatin interaction
ENSG00000180096	Chromatin interaction
ENSG00000179918	Chromatin interaction
ENSG00000169217	Chromatin interaction
ENSG00000149925	Chromatin interaction
ENSG00000097046	Chromatin interaction
ENSG00000270466	Chromatin interaction
ENSG00000180209	Chromatin interaction
ENSG00000179958	Chromatin interaction
ENSG00000156860	Chromatin interaction
ENSG00000180035	Chromatin interaction
ENSG00000260219	Chromatin interaction
ENSG00000169951	Chromatin interaction
ENSG00000260869	Chromatin interaction
ENSG00000183604	Chromatin interaction
ENSG00000169221	Chromatin interaction
ENSG00000156858	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 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	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
4	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
5	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
6	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
7	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
8	nsv962197	chr16:30390489-30425618	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
9	nsv1782	chr16:30391812-30410266	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
10	esv3325798	chr16:30405476-30408024	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 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	chr16:30405000-30407400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr16:30405000-30407600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr16:30405400-30407600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr16:30405400-30407800	Active TSS	Fetal Kidney	kidney
5	chr16:30405600-30406600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr16:30405600-30407000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr16:30405600-30407200	Active TSS	Colonic Mucosa	Colon
8	chr16:30405600-30407400	Active TSS	Hela-S3	cervix
9	chr16:30405600-30407600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr16:30405600-30407800	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr16:30405600-30407800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr16:30405800-30407000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr16:30405800-30407200	Active TSS	Brain Anterior Caudate	brain
14	chr16:30405800-30407200	Active TSS	HMEC	breast
15	chr16:30405800-30407400	Active TSS	H1 Cell Line	embryonic stem cell
16	chr16:30405800-30407400	Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr16:30405800-30407400	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr16:30405800-30407400	Active TSS	Rectal Mucosa Donor 29	rectum
19	chr16:30405800-30407400	Active TSS	Right Ventricle	heart
20	chr16:30405800-30407400	Bivalent/Poised TSS	HepG2	liver
21	chr16:30405800-30407400	Active TSS	NHLF	lung
22	chr16:30405800-30407600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr16:30405800-30407600	Active TSS	Aorta	Aorta
24	chr16:30405800-30407800	Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr16:30405800-30407800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr16:30405800-30407800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr16:30405800-30407800	Active TSS	NHDF-Ad	bronchial
28	chr16:30405800-30408000	Active TSS	H9 Cell Line	embryonic stem cell
29	chr16:30405800-30408000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr16:30405800-30408000	Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr16:30405800-30408000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
32	chr16:30405800-30408000	Active TSS	Right Atrium	heart
33	chr16:30405800-30408200	Active TSS	iPS-15b Cell Line	embryonic stem cell
34	chr16:30406000-30406600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
35	chr16:30406000-30407000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr16:30406000-30407200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr16:30406000-30407200	Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr16:30406000-30407200	Active TSS	Fetal Muscle Trunk	muscle
39	chr16:30406000-30407200	Active TSS	Rectal Mucosa Donor 31	rectum
40	chr16:30406000-30407200	Active TSS	HSMM	muscle
41	chr16:30406000-30407400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr16:30406000-30407400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr16:30406000-30407400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr16:30406000-30407400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
45	chr16:30406000-30407400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
46	chr16:30406000-30407400	Active TSS	Primary T killer memory cells from peripheral blood	blood
47	chr16:30406000-30407400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr16:30406000-30407400	Active TSS	Brain Germinal Matrix	brain
49	chr16:30406000-30407400	Active TSS	Brain Substantia Nigra	brain
50	chr16:30406000-30407400	Active TSS	Colon Smooth Muscle	Colon

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