Variant report

Variant	esv3417792
Chromosome Location	chr16:71416447-71419521
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	CTCF	chr16:71418380-71418605	GM19239	blood:	n/a	n/a
2	CTCF	chr16:71419240-71419390	GM12873	blood:	n/a	n/a
3	CTCF	chr16:71419200-71419350	HepG2	liver:	n/a	n/a
4	CTCF	chr16:71419120-71419270	HCT-116	colon:	n/a	n/a
5	POLR2A	chr16:71418228-71418585	HepG2	liver:	n/a	n/a
6	POLR2A	chr16:71418433-71418599	A549	lung:	n/a	n/a
7	POLR2A	chr16:71418416-71418417	A549	lung:	n/a	n/a
8	POLR2A	chr16:71418538-71418672	H1-hESC	embryonic stem cell:	n/a	n/a
9	TCF12	chr16:71418350-71418711	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
CALB2	TF binding region

Extended variants
information (count: 201 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:201 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188671930	chr16:71416484-71416485	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs148434480	chr16:71416496-71416497	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs576200028	chr16:71416554-71416555	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs376259009	chr16:71416573-71416574	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192997572	chr16:71416585-71416586	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs370740060	chr16:71416590-71416591	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs34063691	chr16:71416608-71416609	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs140667050	chr16:71416629-71416630	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201261434	chr16:71416657-71416658	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs573954879	chr16:71416660-71416661	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs150422245	chr16:71416672-71416673	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs542260348	chr16:71416680-71416681	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560504358	chr16:71416686-71416687	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs377617012	chr16:71416715-71416716	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs80320734	chr16:71416720-71416721	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs572449666	chr16:71416758-71416759	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs546025663	chr16:71416766-71416767	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs564593187	chr16:71416794-71416795	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs184824013	chr16:71416797-71416798	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs550300231	chr16:71416810-71416811	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs142590569	chr16:71416837-71416838	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs529579588	chr16:71416868-71416869	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs71709684	chr16:71416870-71416871	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs398100276	chr16:71416872-71416873	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs189281944	chr16:71416886-71416887	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565386466	chr16:71416888-71416889	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs147616775	chr16:71416906-71416907	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs551198232	chr16:71416907-71416908	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs569688207	chr16:71416963-71416964	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs536872399	chr16:71417015-71417016	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555567396	chr16:71417016-71417017	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs34055797	chr16:71417031-71417032	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs180944126	chr16:71417069-71417070	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs571255058	chr16:71417071-71417072	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs534944369	chr16:71417088-71417089	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs553299874	chr16:71417091-71417092	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572388408	chr16:71417108-71417109	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs73571857	chr16:71417122-71417123	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs140598047	chr16:71417131-71417132	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs144564854	chr16:71417133-71417134	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs543667744	chr16:71417144-71417145	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs144379937	chr16:71417165-71417166	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554368488	chr16:71417186-71417187	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs561975753	chr16:71417192-71417193	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs147870751	chr16:71417196-71417197	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs186113324	chr16:71417201-71417202	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370989254	chr16:71417225-71417226	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs200120146	chr16:71417226-71417227	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs111370553	chr16:71417233-71417234	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551329852	chr16:71417235-71417236	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

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
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Prostate cancer	16573809	CNVD
Chordoma	18071362	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 myeloid leukemia	16864856	CNVD
Infiltrating lobular breast cancer	19191266	CNVD
T-cell lymphomas	19863542	CNVD
Hepatocellular carcinoma	16750200	CNVD
Medulloblastoma	16783165	CNVD
Neuroblastoma	21899760	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	18628472	CNVD
Breast cancer	21806811	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Breast cancer	21509527	CNVD
Melanoma	22183965	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Neuroblastoma	18923524	CNVD
small cell lung cancer	20016488	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71398800-71419800	Weak transcription	Brain Germinal Matrix	brain
2	chr16:71413800-71416800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr16:71414600-71418400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr16:71416400-71419400	Strong transcription	Adipose Nuclei	Adipose
5	chr16:71416600-71417400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr16:71416600-71417600	Enhancers	Placenta Amnion	Placenta Amnion
7	chr16:71416600-71417800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr16:71416600-71418400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr16:71416600-71419400	Enhancers	Esophagus	oesophagus
10	chr16:71416800-71417800	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr16:71416800-71418000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr16:71416800-71420600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr16:71417200-71417800	Enhancers	H1 Cell Line	embryonic stem cell
14	chr16:71417200-71418200	Enhancers	Fetal Brain Male	brain
15	chr16:71417400-71417600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr16:71417400-71417600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr16:71417400-71419000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr16:71417600-71417800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr16:71417600-71418400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr16:71417600-71420600	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr16:71417600-71421200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr16:71417800-71418000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr16:71417800-71419200	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr16:71417800-71419600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr16:71417800-71420000	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr16:71418000-71418400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr16:71418000-71420200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr16:71418200-71419400	Weak transcription	Fetal Brain Male	brain
29	chr16:71418400-71418600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
30	chr16:71418400-71418600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr16:71418400-71418600	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
32	chr16:71418400-71418600	Enhancers	Gastric	stomach
33	chr16:71418400-71418800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr16:71418400-71419000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr16:71418600-71419000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr16:71418600-71419000	Enhancers	H9 Cell Line	embryonic stem cell
37	chr16:71418800-71419000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr16:71419000-71419600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr16:71419000-71419600	Bivalent Enhancer	Stomach Smooth Muscle	stomach
40	chr16:71419000-71420000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
41	chr16:71419000-71420000	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr16:71419000-71421800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr16:71419000-71422000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr16:71419200-71420800	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr16:71419200-71421800	Enhancers	Fetal Stomach	stomach
46	chr16:71419200-71422600	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr16:71419200-71422800	Enhancers	H1 Cell Line	embryonic stem cell
48	chr16:71419400-71420600	Enhancers	Fetal Brain Male	brain
49	chr16:71419400-71421600	Weak transcription	Esophagus	oesophagus
50	chr16:71419400-71423400	Weak transcription	Adipose Nuclei	Adipose

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