Variant report

Variant	nsv573021
Chromosome Location	chr16:76403815-76426749
allele	n/a
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	CEBPB	chr16:76411961-76412268	K562	blood:	n/a	chr16:76412123-76412134
2	CEBPB	chr16:76420686-76420983	HepG2	liver:	n/a	chr16:76420812-76420823
3	CEBPB	chr16:76420802-76420826	K562	blood:	n/a	chr16:76420812-76420823
4	CEBPB	chr16:76411948-76412307	IMR90	lung:	n/a	chr16:76412123-76412134
5	CEBPB	chr16:76417452-76417647	A549	lung:	n/a	chr16:76417565-76417576
6	CEBPB	chr16:76420659-76421021	MCF-7	breast:	n/a	chr16:76420812-76420823
7	CEBPB	chr16:76420637-76421018	Hela-S3	cervix:	n/a	chr16:76420812-76420823
8	CEBPB	chr16:76411375-76411554	HepG2	liver:	n/a	chr16:76411382-76411393 chr16:76411382-76411395
9	CEBPB	chr16:76411985-76412274	H1-hESC	embryonic stem cell:	n/a	chr16:76412123-76412134
10	CEBPB	chr16:76420681-76420900	IMR90	lung:	n/a	chr16:76420812-76420823
11	CEBPB	chr16:76411943-76412290	HepG2	liver:	n/a	chr16:76412123-76412134
12	CEBPB	chr16:76420670-76420967	H1-hESC	embryonic stem cell:	n/a	chr16:76420812-76420823
13	CEBPB	chr16:76411952-76412267	A549	lung:	n/a	chr16:76412123-76412134
14	CEBPB	chr16:76417452-76417719	HepG2	liver:	n/a	chr16:76417565-76417576
15	CEBPB	chr16:76420707-76420987	A549	lung:	n/a	chr16:76420812-76420823
16	CTCF	chr16:76424120-76424270	BE2_C	brain:	n/a	n/a
17	CTCF	chr16:76416906-76416991	GM13976	blood:	n/a	n/a
18	E2F4	chr16:76422697-76423236	MCF10A-Er-Src	breast:	n/a	n/a
19	FOS	chr16:76420643-76421078	MCF10A-Er-Src	breast:	n/a	n/a
20	FOS	chr16:76424425-76424708	MCF10A-Er-Src	breast:	n/a	chr16:76424545-76424559 chr16:76424535-76424547
21	FOS	chr16:76418463-76418640	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr16:76420615-76421096	MCF10A-Er-Src	breast:	n/a	n/a
23	FOS	chr16:76424399-76424735	MCF10A-Er-Src	breast:	n/a	chr16:76424545-76424559 chr16:76424535-76424547
24	FOS	chr16:76420450-76421322	MCF10A-Er-Src	breast:	n/a	n/a
25	FOS	chr16:76423017-76423344	MCF10A-Er-Src	breast:	n/a	chr16:76423158-76423170 chr16:76423160-76423168
26	FOS	chr16:76422995-76423348	MCF10A-Er-Src	breast:	n/a	chr16:76423158-76423170 chr16:76423160-76423168
27	FOS	chr16:76420651-76421037	MCF10A-Er-Src	breast:	n/a	n/a
28	FOS	chr16:76424462-76424723	MCF10A-Er-Src	breast:	n/a	chr16:76424545-76424559 chr16:76424535-76424547
29	FOS	chr16:76422929-76423451	MCF10A-Er-Src	breast:	n/a	chr16:76423158-76423170 chr16:76423160-76423168
30	FOS	chr16:76424457-76424724	MCF10A-Er-Src	breast:	n/a	chr16:76424545-76424559 chr16:76424535-76424547
31	FOS	chr16:76422919-76423352	MCF10A-Er-Src	breast:	n/a	chr16:76423158-76423170 chr16:76423160-76423168
32	FOSL2	chr16:76423000-76423461	SK-N-SH	brain:	n/a	chr16:76423158-76423170 chr16:76423160-76423168
33	GATA2	chr16:76420278-76420807	SH-SY5Y	brain:	n/a	chr16:76420349-76420358 chr16:76420346-76420362 chr16:76420351-76420358 chr16:76420351-76420358 chr16:76420351-76420358 chr16:76420349-76420359 chr16:76420344-76420365
34	GATA3	chr16:76409652-76409843	SH-SY5Y	brain:	n/a	n/a
35	GATA3	chr16:76420211-76420511	SH-SY5Y	brain:	n/a	chr16:76420349-76420358 chr16:76420346-76420362 chr16:76420351-76420358 chr16:76420351-76420358 chr16:76420351-76420358 chr16:76420349-76420359 chr16:76420344-76420365
36	GATA3	chr16:76417419-76417512	SH-SY5Y	brain:	n/a	n/a
37	GATA3	chr16:76418984-76419261	SH-SY5Y	brain:	n/a	n/a
38	GATA3	chr16:76413671-76413839	SH-SY5Y	brain:	n/a	chr16:76413684-76413696 chr16:76413683-76413693 chr16:76413686-76413693 chr16:76413686-76413695 chr16:76413811-76413824 chr16:76413685-76413695
39	JUND	chr16:76420754-76420922	H1-hESC	embryonic stem cell:	n/a	n/a
40	MAFF	chr16:76421907-76422202	HepG2	liver:	n/a	chr16:76422051-76422069
41	MAFF	chr16:76425172-76425483	HepG2	liver:	n/a	n/a
42	MAFF	chr16:76414611-76414684	HepG2	liver:	n/a	n/a
43	MAFK	chr16:76425150-76425463	HepG2	liver:	n/a	n/a
44	MAFK	chr16:76421898-76422213	HepG2	liver:	n/a	chr16:76422052-76422067
45	MAFK	chr16:76421895-76422234	HepG2	liver:	n/a	chr16:76422052-76422067
46	MAFK	chr16:76410010-76410178	HepG2	liver:	n/a	n/a
47	MAFK	chr16:76425189-76425470	HepG2	liver:	n/a	n/a
48	MAFK	chr16:76414630-76414814	HepG2	liver:	n/a	chr16:76414670-76414687 chr16:76414674-76414689 chr16:76414674-76414690 chr16:76414678-76414689
49	MAFK	chr16:76421905-76422163	IMR90	lung:	n/a	chr16:76422052-76422067
50	MAFK	chr16:76425299-76425339	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:76410172..76411820-chr16:76413845..76416740,2	K562	blood:
2	chr16:76421818..76424813-chr16:76424956..76427110,2	MCF-7	breast:
3	chr10:3005128..3007874-chr16:76409893..76412241,2	MCF-7	breast:
4	chr16:76421818..76424813-chr16:76424956..76427110,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000264645	TF binding region
ENSG00000264645	chromatin interactions

Extended variants
information (count: 1252 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:1252 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13331181	chr16:76403815-76403816	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs13331184	chr16:76403827-76403828	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs116505491	chr16:76403831-76403832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs574690630	chr16:76403843-76403844	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs376712235	chr16:76403868-76403869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs549544747	chr16:76403885-76403886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs186351555	chr16:76403906-76403907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs370472350	chr16:76403915-76403916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs555119285	chr16:76403927-76403928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536636536	chr16:76403951-76403952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556668034	chr16:76403967-76403968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs13331248	chr16:76403973-76403974	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs140279982	chr16:76403974-76403975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs59776564	chr16:76404003-76404004	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs189622962	chr16:76404017-76404018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs182305937	chr16:76404056-76404057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs1428753	chr16:76404057-76404058	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs543211209	chr16:76404073-76404074	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs199815848	chr16:76404111-76404112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs370764420	chr16:76404113-76404114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs16944308	chr16:76404118-76404119	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs377061948	chr16:76404123-76404124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs140167441	chr16:76404135-76404136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs373458884	chr16:76404152-76404153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs116379407	chr16:76404153-76404154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs13335812	chr16:76404173-76404174	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs552563850	chr16:76404186-76404187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs370717129	chr16:76404197-76404198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs149941760	chr16:76404234-76404235	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs13336161	chr16:76404236-76404237	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs147692337	chr16:76404301-76404302	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs74856453	chr16:76404305-76404306	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs186464350	chr16:76404334-76404335	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs549174284	chr16:76404354-76404355	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs559500136	chr16:76404356-76404357	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs117605719	chr16:76404364-76404365	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs191005106	chr16:76404391-76404392	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557453695	chr16:76404398-76404399	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs142383592	chr16:76404400-76404401	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs537738036	chr16:76404414-76404415	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs557640594	chr16:76404434-76404435	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs574397942	chr16:76404453-76404454	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs34952721	chr16:76404470-76404471	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs553555801	chr16:76404480-76404481	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs573235892	chr16:76404482-76404483	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs114170613	chr16:76404486-76404487	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs535358002	chr16:76404510-76404511	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs530764443	chr16:76404519-76404520	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs146571711	chr16:76404534-76404535	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs7193350	chr16:76404556-76404557	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:70)

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
Schizophrenia	23813976	CNVD
Lung cancer	24585490	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:76390800-76406400	Weak transcription	Brain Angular Gyrus	brain
2	chr16:76394600-76409400	Weak transcription	Brain Hippocampus Middle	brain
3	chr16:76395400-76421800	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr16:76403200-76409600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr16:76404200-76404600	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr16:76404200-76404600	Enhancers	H1 Cell Line	embryonic stem cell
7	chr16:76404200-76404600	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr16:76404200-76404600	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr16:76404400-76404600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr16:76404400-76404600	Enhancers	Fetal Lung	lung
11	chr16:76405000-76409600	Weak transcription	Brain Substantia Nigra	brain
12	chr16:76409400-76410000	Enhancers	Brain Hippocampus Middle	brain
13	chr16:76409600-76410000	Enhancers	Brain Cingulate Gyrus	brain
14	chr16:76409600-76410400	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr16:76410000-76422000	Weak transcription	Brain Hippocampus Middle	brain
16	chr16:76410000-76427400	Weak transcription	Brain Cingulate Gyrus	brain
17	chr16:76414000-76415600	Enhancers	Fetal Brain Male	brain
18	chr16:76416600-76417200	Enhancers	Brain Substantia Nigra	brain
19	chr16:76417200-76422000	Weak transcription	Brain Substantia Nigra	brain
20	chr16:76419600-76420000	Enhancers	Placenta Amnion	Placenta Amnion
21	chr16:76420000-76420400	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr16:76420400-76420600	Enhancers	Placenta Amnion	Placenta Amnion
23	chr16:76420400-76422200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr16:76420600-76424000	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr16:76421000-76421200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr16:76421600-76422200	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr16:76421800-76422200	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr16:76421800-76422200	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr16:76422000-76422400	Enhancers	Brain Hippocampus Middle	brain
30	chr16:76422000-76423200	Enhancers	Brain Substantia Nigra	brain
31	chr16:76422200-76426600	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr16:76422200-76432200	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr16:76422400-76432000	Weak transcription	Brain Hippocampus Middle	brain
34	chr16:76422600-76424600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr16:76423000-76423600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr16:76423200-76427000	Weak transcription	Brain Substantia Nigra	brain
37	chr16:76423400-76424200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr16:76424000-76424400	Enhancers	Placenta Amnion	Placenta Amnion
39	chr16:76424400-76425600	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr16:76425600-76425800	Enhancers	Placenta Amnion	Placenta Amnion
41	chr16:76426600-76427200	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr16:76426600-76427400	Enhancers	H9 Cell Line	embryonic stem cell

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