Variant report

Variant	rs145770993
Chromosome Location	chr16:75505954-75505955
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	CTCF	chr16:75505704-75506019	Medullo	brain:	n/a	chr16:75505845-75505861 chr16:75505846-75505867 chr16:75505844-75505862
2	RAD21	chr16:75505715-75506035	K562	blood:	n/a	chr16:75505845-75505864
3	ELF1	chr16:75505599-75506103	GM12878	blood:	n/a	n/a
4	RAD21	chr16:75505519-75506167	A549	lung:	n/a	chr16:75505653-75505666 chr16:75505845-75505864 chr16:75505655-75505665
5	MAX	chr16:75505710-75505995	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr16:75505563-75506115	MCF-7	breast:	n/a	chr16:75505845-75505861 chr16:75505846-75505867 chr16:75505844-75505862
7	CTCF	chr16:75505595-75506057	ECC-1	luminal epithelium:	n/a	chr16:75505845-75505861 chr16:75505846-75505867 chr16:75505844-75505862
8	CUX1	chr16:75505722-75506043	K562	blood:	n/a	n/a
9	CTCF	chr16:75505820-75505970	HFF	foreskin:	n/a	chr16:75505845-75505861 chr16:75505846-75505867 chr16:75505844-75505862
10	E2F4	chr16:75505748-75506005	MCF10A-Er-Src	breast:	n/a	n/a
11	CTCF	chr16:75505580-75506080	A549	lung:	n/a	chr16:75505845-75505861 chr16:75505846-75505867 chr16:75505844-75505862
12	MAFK	chr16:75505716-75506099	HepG2	liver:	n/a	chr16:75505826-75505841
13	RAD21	chr16:75505665-75506106	HepG2	liver:	n/a	chr16:75505845-75505864
14	POLR2A	chr16:75505911-75506033	MCF10A-Er-Src	breast:	n/a	n/a
15	CTCF	chr16:75505715-75506053	HUVEC	blood vessel:	n/a	chr16:75505845-75505861 chr16:75505846-75505867 chr16:75505844-75505862
16	MAZ	chr16:75505702-75506022	K562	blood:	n/a	n/a
17	RAD21	chr16:75505631-75506082	H1-hESC	embryonic stem cell:	n/a	chr16:75505653-75505666 chr16:75505845-75505864 chr16:75505655-75505665
18	CTCF	chr16:75505742-75505999	Kidney_OC	kidney:	n/a	chr16:75505845-75505861 chr16:75505846-75505867 chr16:75505844-75505862
19	CTCF	chr16:75505682-75505981	HepG2	liver:	n/a	chr16:75505845-75505861 chr16:75505846-75505867 chr16:75505844-75505862
20	ARID3A	chr16:75505682-75506080	HepG2	liver:	n/a	n/a
21	CTCF	chr16:75505703-75505995	MCF-7	breast:	n/a	chr16:75505845-75505861 chr16:75505846-75505867 chr16:75505844-75505862
22	RAD21	chr16:75505684-75506075	SK-N-SH_RA	brain:	n/a	chr16:75505845-75505864
23	TBL1XR1	chr16:75505763-75506086	K562	blood:	n/a	n/a
24	RAD21	chr16:75505631-75506094	Hela-S3	cervix:	n/a	chr16:75505653-75505666 chr16:75505845-75505864 chr16:75505655-75505665
25	SMC3	chr16:75505626-75506096	GM12878	blood:	n/a	n/a
26	CTCF	chr16:75505704-75506006	K562	blood:	n/a	chr16:75505845-75505861 chr16:75505846-75505867 chr16:75505844-75505862
27	RAD21	chr16:75505696-75506022	GM12878	blood:	n/a	chr16:75505845-75505864
28	JUN	chr16:75505682-75506082	HepG2	liver:	n/a	n/a
29	MYC	chr16:75505703-75506106	MCF10A-Er-Src	breast:	n/a	n/a
30	CTCF	chr16:75505760-75506010	A549	lung:	n/a	chr16:75505845-75505861 chr16:75505846-75505867 chr16:75505844-75505862
31	RAD21	chr16:75505599-75506177	A549	lung:	n/a	chr16:75505653-75505666 chr16:75505845-75505864 chr16:75505655-75505665
32	CTCF	chr16:75505649-75506081	IMR90	lung:	n/a	chr16:75505845-75505861 chr16:75505846-75505867 chr16:75505844-75505862
33	RAD21	chr16:75505536-75506155	ECC-1	luminal epithelium:	n/a	chr16:75505653-75505666 chr16:75505845-75505864 chr16:75505655-75505665
34	RCOR1	chr16:75505690-75506016	K562	blood:	n/a	n/a
35	CTCF	chr16:75505651-75505996	Lung_OC	lung:	n/a	chr16:75505845-75505861 chr16:75505846-75505867 chr16:75505844-75505862
36	ATF2	chr16:75505640-75506042	H1-hESC	embryonic stem cell:	n/a	n/a
37	TEAD4	chr16:75505628-75506030	H1-hESC	embryonic stem cell:	n/a	n/a
38	MYC	chr16:75505785-75506031	MCF10A-Er-Src	breast:	n/a	n/a
39	CTCF	chr16:75505737-75506001	A549	lung:	n/a	chr16:75505845-75505861 chr16:75505846-75505867 chr16:75505844-75505862
40	JUND	chr16:75505670-75506050	K562	blood:	n/a	n/a
41	FOS	chr16:75505732-75506014	MCF10A-Er-Src	breast:	n/a	n/a
42	CTCF	chr16:75505629-75506074	HepG2	liver:	n/a	chr16:75505845-75505861 chr16:75505846-75505867 chr16:75505844-75505862
43	CTCF	chr16:75505716-75505976	MCF-7	breast:	n/a	chr16:75505845-75505861 chr16:75505846-75505867 chr16:75505844-75505862
44	CTCF	chr16:75505627-75505982	T-47D	breast:	n/a	chr16:75505845-75505861 chr16:75505846-75505867 chr16:75505844-75505862
45	ZNF143	chr16:75505667-75506027	GM12878	blood:	n/a	n/a
46	ZNF384	chr16:75505725-75505999	K562	blood:	n/a	n/a
47	CTCF	chr16:75505698-75505964	GM12892	blood:	n/a	chr16:75505845-75505861 chr16:75505846-75505867 chr16:75505844-75505862
48	CTCF	chr16:75505693-75505996	Gliobla	brain:	n/a	chr16:75505845-75505861 chr16:75505846-75505867 chr16:75505844-75505862
49	RAD21	chr16:75505556-75506145	HepG2	liver:	n/a	chr16:75505653-75505666 chr16:75505845-75505864 chr16:75505655-75505665
50	CTCF	chr16:75505727-75505991	GM13977	blood:	n/a	chr16:75505845-75505861 chr16:75505846-75505867 chr16:75505844-75505862

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr16:75505953-75506003	ovcar-3	ovarian:	n/a
2	chr16:75505953-75506003	AG04449	skin:	fetal
3	chr16:75505953-75506003	H1-hESC	embryonic stem cell:	embryo
4	chr16:75505953-75506003	HNPCEpiC	eye:	n/a
5	chr16:75505953-75506003	HIPEpiC	eye:	n/a
6	chr16:75505953-75506003	PFSK-1	brain:	n/a
7	chr16:75505953-75506003	HAEpiC	amniotic membrane:	n/a
8	chr16:75505953-75506003	HRE	kidney:	n/a
9	chr16:75505953-75506003	HCF	heart:	n/a
10	chr16:75505953-75506003	AG10803	skin:	n/a
11	chr16:75505953-75506003	A549	lung:	n/a
12	chr16:75505953-75506003	HCT-116	colon:	n/a
13	chr16:75505953-75506003	HL-60	blood:	n/a
14	chr16:75505953-75506003	CMK	blood:	n/a
15	chr16:75505953-75506003	AoSMC	blood vessel:	n/a
16	chr16:75505953-75506003	Jurkat	blood:	n/a
17	chr16:75505953-75506003	LNCaP	prostate:	n/a
18	chr16:75505953-75506003	ECC-1	luminal epithelium:	n/a
19	chr16:75505953-75506003	BE2_C	brain:	n/a
20	chr16:75505953-75506003	NHDF-neo	bronchial:	n/a
21	chr16:75505953-75506003	HEEpiC	esophagus:	n/a
22	chr16:75505953-75506003	SKMC	muscle:	n/a
23	chr16:75505953-75506003	GM19239	blood:	n/a
24	chr16:75505953-75506003	PANC-1	pancreas:	n/a
25	chr16:75505953-75506003	MCF-7	breast:	n/a
26	chr16:75505953-75506003	Hela-S3	cervix:	n/a
27	chr16:75505953-75506003	U87	brain:	n/a
28	chr16:75505953-75506003	SK-N-MC	brain:	n/a
29	chr16:75505953-75506003	AG04450	lung:	fetal
30	chr16:75505953-75506003	NH-A	brain:	n/a
31	chr16:75505953-75506003	HEK293	kidney:	embryo
32	chr16:75505953-75506003	NHBE	bronchial:	n/a
33	chr16:75505953-75506003	SK-N-SH	brain:	n/a
34	chr16:75505953-75506003	T-47D	breast:	n/a
35	chr16:75505953-75506003	BJ	skin:	n/a
36	chr16:75505953-75506003	ProgFib	skin:	n/a
37	chr16:75505953-75506003	K562	blood:	n/a
38	chr16:75505953-75506003	NB4	blood:	n/a
39	chr16:75505953-75506003	MCF10A-Er-Src	breast:	n/a
40	chr16:75505953-75506003	SAEC	small airway:	n/a
41	chr16:75505953-75506003	HPAEpiC	pulmonary alveolar:	n/a
42	chr16:75505953-75506003	HRCEpiC	kidney:	n/a
43	chr16:75505953-75506003	NT2-D1	testis:	n/a
44	chr16:75505953-75506003	Hepatocyte	liver:	n/a
45	chr16:75505953-75506003	AG09309	skin:	n/a
46	chr16:75505953-75506003	GM06990	blood:	n/a
47	chr16:75505953-75506003	Caco-2	colon:	n/a
48	chr16:75505953-75506003	AG09319	gingival:	n/a
49	chr16:75505953-75506003	HMEC	breast:	n/a
50	chr16:75505953-75506003	IMR90	lung:	fetal

No.	Distal block	Cell Line	Cell type
1	chr16:75505900..75508078-chr16:75510609..75513420,3	MCF-7	breast:
2	chr16:75505099..75506340-chr16:75550615..75551890,14	MCF-7	breast:
3	chr16:75505389..75506473-chr16:75583495..75584930,9	MCF-7	breast:
4	chr16:75505427..75506354-chr16:75654710..75655557,4	MCF-7	breast:
5	chr16:75505406..75506311-chr16:75797784..75798667,3	MCF-7	breast:
6	chr16:75497399..75499829-chr16:75504719..75506935,2	K562	blood:
7	chr16:75505198..75507754-chr16:75508642..75511329,3	MCF-7	breast:
8	chr16:75505434..75506225-chr16:75525498..75526266,4	MCF-7	breast:
9	chr16:75498302..75501327-chr16:75504047..75506943,4	MCF-7	breast:
10	chr16:75505256..75507400-chr16:75525903..75527940,2	MCF-7	breast:
11	chr16:75505378..75506356-chr16:75797770..75798866,7	K562	blood:
12	chr16:75505622..75506307-chr16:75550967..75551855,3	K562	blood:
13	chr16:75503615..75506963-chr16:75549703..75552207,3	MCF-7	breast:
14	chr16:75497168..75499078-chr16:75505680..75507932,2	MCF-7	breast:
15	chr16:75505348..75506153-chr16:75551055..75551869,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000203472	TF binding region
ENSG00000203472	CpG island
ENSG00000262583	Chromatin interaction
ENSG00000261717	Chromatin interaction
ENSG00000166822	Chromatin interaction
ENSG00000203472	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916502	chr16:74845880-75732365	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
2	nsv931939	chr16:75261354-75765025	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
3	nsv1065995	chr16:75373756-75626027	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
4	nsv1063718	chr16:75395969-75608071	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
5	esv2758432	chr16:75419614-75576971	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
6	esv2758657	chr16:75419614-75576971	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
7	nsv525955	chr16:75473332-75628345	Strong transcription Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
8	nsv457521	chr16:75487758-75603925	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
9	nsv572979	chr16:75487758-75603925	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
10	esv3485939	chr16:75497453-75550284	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
11	esv3485940	chr16:75497453-75550284	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
12	nsv572980	chr16:75505046-75549885	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75498600-75506800	Weak transcription	Brain Substantia Nigra	brain
2	chr16:75498600-75511800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr16:75498800-75507200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr16:75498800-75518600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr16:75499000-75511000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr16:75499000-75511200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr16:75499000-75511200	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr16:75499200-75506000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr16:75499200-75506200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr16:75499200-75511400	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr16:75499200-75511400	Weak transcription	Brain Anterior Caudate	brain
12	chr16:75499200-75519600	Weak transcription	Fetal Intestine Small	intestine
13	chr16:75501400-75506000	Weak transcription	HepG2	liver
14	chr16:75502400-75518200	Weak transcription	Aorta	Aorta
15	chr16:75504000-75506800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr16:75505000-75507000	Enhancers	H1 Cell Line	embryonic stem cell
17	chr16:75505200-75506000	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr16:75505400-75507200	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr16:75505400-75512600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr16:75505600-75506000	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr16:75505600-75506000	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr16:75505600-75506200	Enhancers	Brain Cingulate Gyrus	brain
23	chr16:75505600-75506200	Enhancers	Brain Hippocampus Middle	brain
24	chr16:75505600-75506200	Enhancers	A549	lung
25	chr16:75505600-75506400	Enhancers	Hela-S3	cervix
26	chr16:75505600-75506800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr16:75505800-75506000	Enhancers	H9 Cell Line	embryonic stem cell
28	chr16:75505800-75506000	Enhancers	Primary B cells from peripheral blood	blood
29	chr16:75505800-75506000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
30	chr16:75505800-75506200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
31	chr16:75505800-75506200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr16:75505800-75506200	Enhancers	Fetal Heart	heart
33	chr16:75505800-75506200	Enhancers	Fetal Kidney	kidney
34	chr16:75505800-75506600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell

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