Variant report

Variant	nsv906945
Chromosome Location	chr16:76547629-76612750
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:241)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:241 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr16:76608141-76609300	HepG2	liver:	n/a	n/a
2	ARID3A	chr16:76566183-76566513	HepG2	liver:	n/a	n/a
3	ATF1	chr16:76581402-76581528	K562	blood:	n/a	n/a
4	ATF1	chr16:76549644-76549672	K562	blood:	n/a	n/a
5	BATF	chr16:76610931-76611290	GM12878	blood:	n/a	n/a
6	BATF	chr16:76610960-76611272	GM12878	blood:	n/a	n/a
7	BHLHE40	chr16:76608424-76608923	HepG2	liver:	n/a	n/a
8	BHLHE40	chr16:76610846-76611310	GM12878	blood:	n/a	n/a
9	BHLHE40	chr16:76556000-76556061	K562	blood:	n/a	n/a
10	CEBPB	chr16:76551458-76551716	K562	blood:	n/a	n/a
11	CEBPB	chr16:76552574-76552900	H1-hESC	embryonic stem cell:	n/a	n/a
12	CEBPB	chr16:76608602-76608974	HepG2	liver:	n/a	n/a
13	CEBPB	chr16:76551481-76551748	A549	lung:	n/a	n/a
14	CEBPB	chr16:76566131-76566396	HepG2	liver:	n/a	n/a
15	CEBPB	chr16:76591052-76591187	HepG2	liver:	n/a	n/a
16	CEBPB	chr16:76608672-76608920	A549	lung:	n/a	n/a
17	CEBPB	chr16:76551445-76551764	HepG2	liver:	n/a	n/a
18	CEBPB	chr16:76589711-76590032	HepG2	liver:	n/a	chr16:76589843-76589855 chr16:76589975-76589987
19	CEBPB	chr16:76608534-76608982	HepG2	liver:	n/a	n/a
20	CEBPB	chr16:76551464-76551752	IMR90	lung:	n/a	n/a
21	CHD1	chr16:76610796-76610923	GM12878	blood:	n/a	n/a
22	CHD2	chr16:76610862-76611217	GM12878	blood:	n/a	n/a
23	CHD2	chr16:76566355-76566356	HepG2	liver:	n/a	n/a
24	CREB1	chr16:76608590-76609011	HepG2	liver:	n/a	n/a
25	CTCF	chr16:76587264-76587314	MCF-7	breast:	n/a	n/a
26	CTCF	chr16:76587254-76587260	MCF-7	breast:	n/a	n/a
27	CTCF	chr16:76574857-76574897	Fibrobl	skin:	n/a	n/a
28	CTCF	chr16:76557687-76557873	GM12878	blood:	n/a	n/a
29	CTCF	chr16:76596320-76596470	Caco-2	colon:	n/a	n/a
30	CTCF	chr16:76610183-76610238	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr16:76557700-76557850	GM12864	blood:	n/a	n/a
32	CUX1	chr16:76610948-76611430	GM12878	blood:	n/a	n/a
33	EBF1	chr16:76599575-76599756	GM12878	blood:	n/a	n/a
34	EBF1	chr16:76606216-76606483	GM12878	blood:	n/a	chr16:76606353-76606364
35	EBF1	chr16:76610880-76611208	GM12878	blood:	n/a	n/a
36	EBF1	chr16:76606074-76606615	GM12878	blood:	n/a	chr16:76606353-76606364
37	EBF1	chr16:76610831-76611323	GM12878	blood:	n/a	n/a
38	EBF1	chr16:76606140-76606565	GM12878	blood:	n/a	chr16:76606353-76606364
39	EGR1	chr16:76556005-76556182	K562	blood:	n/a	n/a
40	EGR1	chr16:76555992-76556170	K562	blood:	n/a	n/a
41	EP300	chr16:76608556-76608975	HepG2	liver:	n/a	n/a
42	EP300	chr16:76610933-76611113	GM12878	blood:	n/a	n/a
43	EP300	chr16:76610852-76611251	GM12878	blood:	n/a	n/a
44	EP300	chr16:76610803-76611329	GM12878	blood:	n/a	n/a
45	EP300	chr16:76606286-76606554	GM12878	blood:	n/a	n/a
46	EP300	chr16:76554542-76554623	GM12878	blood:	n/a	n/a
47	EP300	chr16:76566237-76566359	HepG2	liver:	n/a	chr16:76566310-76566320
48	EP300	chr16:76551578-76551658	K562	blood:	n/a	n/a
49	EP300	chr16:76608517-76609028	HepG2	liver:	n/a	n/a
50	EP300	chr16:76608487-76608974	GM12878	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:76560975..76563666-chr16:76569503..76571277,2	K562	blood:
2	chr16:76584372..76585914-chr16:76586080..76587632,2	MCF-7	breast:
3	chr16:76560975..76563666-chr16:76569503..76571277,2	K562	blood:
4	chr16:76607256..76609840-chr16:76614807..76617382,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000261833	TF binding region
ENSG00000261833	chromatin interactions

Extended variants
information (count: 2737 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:2737 , 50 per page) page: 1 2 3 4 5 6 7 ... 55

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7200930	chr16:76547629-76547630	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs573484601	chr16:76547631-76547632	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs140129334	chr16:76547654-76547655	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs542432029	chr16:76547686-76547687	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs7194056	chr16:76547689-76547690	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs146707769	chr16:76547722-76547723	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs534858985	chr16:76547724-76547725	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs140280544	chr16:76547740-76547741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs578116989	chr16:76547741-76547742	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs184170578	chr16:76547753-76547754	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs557418051	chr16:76547757-76547758	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs574069114	chr16:76547772-76547773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs542149990	chr16:76547785-76547786	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs186736980	chr16:76547789-76547790	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs190014895	chr16:76547799-76547800	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs117322382	chr16:76547827-76547828	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs563854379	chr16:76547899-76547900	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs532836558	chr16:76547944-76547945	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543097259	chr16:76547964-76547965	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs73628707	chr16:76547978-76547979	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs528879167	chr16:76547990-76547991	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs532915698	chr16:76548039-76548040	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs549654501	chr16:76548052-76548053	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs546382959	chr16:76548059-76548060	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs528697492	chr16:76548067-76548068	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs143461383	chr16:76548072-76548073	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs373853098	chr16:76548078-76548079	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs569050691	chr16:76548089-76548090	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376332585	chr16:76548152-76548153	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs58790585	chr16:76548153-76548154	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs557483627	chr16:76548177-76548178	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs76619811	chr16:76548203-76548204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs529096433	chr16:76548223-76548224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs78695860	chr16:76548252-76548253	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs140893114	chr16:76548316-76548317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs370905467	chr16:76548358-76548359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs368260606	chr16:76548362-76548363	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs568077653	chr16:76548415-76548416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs150157011	chr16:76548504-76548505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs557561130	chr16:76548507-76548508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs182669998	chr16:76548516-76548517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs374560941	chr16:76548540-76548541	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs78386377	chr16:76548549-76548550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs558003628	chr16:76548555-76548556	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs373402332	chr16:76548556-76548557	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs186994585	chr16:76548557-76548558	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs138587918	chr16:76548583-76548584	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs192942782	chr16:76548587-76548588	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs114102180	chr16:76548593-76548594	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs560015334	chr16:76548602-76548603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Schizophrenia	22958593	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	17850661	CNVD
Breast cancer	16702952	CNVD
Medulloblastoma	16968546	CNVD
Prostate cancer	19242612	CNVD
Cancer	22429812	CNVD
Ewing''s sarcoma	21437220	CNVD
Ewing''s sarcoma	22429812	CNVD
Melanoma	18172304	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	20837533	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Multiple myeloma	21628407	CNVD
Ovarian cancer	22174824	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	17001317	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	17245344	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Melanoma	22183965	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Poland''s syndrome	22110015	CNVD
Neuroblastoma	21899760	CNVD
Liver carcinoma	19366792	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	19156837	CNVD
Acute myeloid leukemia	17377590	CNVD
Breast cancer	20409316	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	21509527	CNVD
Lung cancer	24585490	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:76525200-76554000	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr16:76547000-76548200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr16:76548000-76548600	Enhancers	Brain Germinal Matrix	brain
4	chr16:76548200-76553000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr16:76551400-76551600	Enhancers	HUES48 Cell Line	embryonic stem cell
6	chr16:76551400-76551600	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr16:76551600-76552200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr16:76551800-76553000	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr16:76552200-76554400	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr16:76552400-76552800	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr16:76552400-76553000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr16:76552400-76554200	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr16:76552600-76553000	Enhancers	H1 Cell Line	embryonic stem cell
14	chr16:76552600-76553000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr16:76552600-76554000	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr16:76552600-76554400	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr16:76552800-76553200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr16:76552800-76553800	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr16:76552800-76554600	Enhancers	Brain Cingulate Gyrus	brain
20	chr16:76553000-76553800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr16:76553000-76554400	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr16:76553200-76554000	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr16:76553400-76553600	Enhancers	Liver	Liver
24	chr16:76553600-76562200	Weak transcription	Liver	Liver
25	chr16:76553800-76554200	Enhancers	Brain Angular Gyrus	brain
26	chr16:76554000-76554600	Enhancers	Brain Hippocampus Middle	brain
27	chr16:76554000-76554600	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr16:76554000-76554600	Enhancers	Fetal Lung	lung
29	chr16:76554200-76569400	Weak transcription	Brain Angular Gyrus	brain
30	chr16:76554400-76556000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr16:76554600-76555600	Weak transcription	Fetal Lung	lung
32	chr16:76554600-76587200	Weak transcription	Brain Cingulate Gyrus	brain
33	chr16:76554600-76587200	Weak transcription	Brain Hippocampus Middle	brain
34	chr16:76554600-76599400	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr16:76555600-76555800	Enhancers	Fetal Lung	lung
36	chr16:76555800-76556200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr16:76555800-76556200	Active TSS	Brain Substantia Nigra	brain
38	chr16:76555800-76558200	Weak transcription	Fetal Lung	lung
39	chr16:76556000-76556200	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr16:76556200-76581800	Weak transcription	Brain Substantia Nigra	brain
41	chr16:76558400-76558600	Enhancers	Fetal Lung	lung
42	chr16:76558600-76559000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr16:76562200-76562800	Enhancers	Liver	Liver
44	chr16:76562800-76563400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr16:76562800-76563400	Flanking Active TSS	Liver	Liver
46	chr16:76563000-76564000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr16:76563400-76563600	Active TSS	Liver	Liver
48	chr16:76563600-76563800	Flanking Active TSS	Liver	Liver
49	chr16:76563800-76566600	Active TSS	Liver	Liver
50	chr16:76564000-76564400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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