Variant report

Variant	esv2760419
Chromosome Location	chr16:77420889-77422596
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 113 )
Associated
traits (count: 77 )

Variant overlapped rSNPs/rCNVs (count:113 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575859013	chr16:77420902-77420903	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs558238333	chr16:77420904-77420905	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs371415142	chr16:77420909-77420910	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs544746262	chr16:77420914-77420915	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs143834539	chr16:77420941-77420942	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs146354233	chr16:77420954-77420955	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs139388962	chr16:77420956-77420957	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs560335500	chr16:77420963-77420964	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs539576778	chr16:77421011-77421012	Enhancers Genic enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs575521874	chr16:77421014-77421015	Enhancers Genic enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs274540	chr16:77421051-77421052	Enhancers Genic enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs187868870	chr16:77421090-77421091	Enhancers Genic enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs274541	chr16:77421113-77421114	Enhancers Genic enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs554298003	chr16:77421125-77421126	Enhancers Genic enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs548328984	chr16:77421142-77421143	Enhancers Genic enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs545775906	chr16:77421185-77421186	Enhancers Genic enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs568143934	chr16:77421188-77421189	Enhancers Genic enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs12598504	chr16:77421194-77421195	Enhancers Genic enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs546688790	chr16:77421203-77421204	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs558947687	chr16:77421204-77421205	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566666659	chr16:77421205-77421206	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs192519906	chr16:77421214-77421215	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs41339645	chr16:77421233-77421234	Enhancers Genic enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs563472862	chr16:77421247-77421248	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184262358	chr16:77421248-77421249	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs538171100	chr16:77421266-77421267	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs555278890	chr16:77421268-77421269	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs532353078	chr16:77421275-77421276	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575082839	chr16:77421298-77421299	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs545480481	chr16:77421312-77421313	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs189609429	chr16:77421319-77421320	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565396002	chr16:77421333-77421334	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572687580	chr16:77421334-77421335	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs17620748	chr16:77421336-77421337	Enhancers Genic enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs577015343	chr16:77421356-77421357	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs545753200	chr16:77421369-77421370	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs12599448	chr16:77421372-77421373	Enhancers Genic enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
38	rs78638891	chr16:77421376-77421377	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs143296471	chr16:77421406-77421407	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs74025988	chr16:77421411-77421412	Enhancers Genic enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs527476126	chr16:77421412-77421413	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs7189575	chr16:77421425-77421426	Enhancers Genic enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs181153473	chr16:77421459-77421460	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs148564551	chr16:77421473-77421474	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs141924133	chr16:77421504-77421505	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs374125734	chr16:77421508-77421509	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs185260426	chr16:77421518-77421519	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs554955506	chr16:77421530-77421531	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs568778655	chr16:77421531-77421532	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534343208	chr16:77421534-77421535	Enhancers Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:77)

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
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Cancer	20581869	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
early-passage human iPS cells	21368824	CNVD
Melanoma	17363583	CNVD
Glioma	20126413	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:77409400-77421000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr16:77409600-77421000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr16:77416800-77425800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr16:77418000-77421000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr16:77418400-77421000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr16:77418600-77421000	Weak transcription	Brain Angular Gyrus	brain
7	chr16:77419000-77422600	Enhancers	Fetal Lung	lung
8	chr16:77419200-77422600	Enhancers	Brain Substantia Nigra	brain
9	chr16:77420200-77421000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr16:77420200-77422200	Enhancers	Ovary	ovary
11	chr16:77420400-77421000	Enhancers	Fetal Brain Female	brain
12	chr16:77420600-77421200	Enhancers	Brain Cingulate Gyrus	brain
13	chr16:77420800-77421200	Flanking Active TSS	HUVEC	blood vessel
14	chr16:77420800-77421400	Enhancers	Fetal Kidney	kidney
15	chr16:77420800-77421600	Enhancers	Adipose Nuclei	Adipose
16	chr16:77420800-77421800	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr16:77420800-77422000	Enhancers	H9 Cell Line	embryonic stem cell
18	chr16:77420800-77422000	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr16:77420800-77422200	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr16:77421000-77421200	Enhancers	Brain Germinal Matrix	brain
21	chr16:77421000-77421200	Enhancers	Brain Inferior Temporal Lobe	brain
22	chr16:77421000-77421400	Enhancers	Brain Angular Gyrus	brain
23	chr16:77421000-77421400	Enhancers	Fetal Stomach	stomach
24	chr16:77421000-77421600	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr16:77421000-77421800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr16:77421000-77421800	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr16:77421000-77421800	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr16:77421000-77422400	Enhancers	H1 Cell Line	embryonic stem cell
29	chr16:77421000-77422800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr16:77421000-77423600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr16:77421200-77422000	Enhancers	HUVEC	blood vessel
32	chr16:77421200-77438800	Weak transcription	Brain Cingulate Gyrus	brain
33	chr16:77421400-77421800	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr16:77421400-77422200	Weak transcription	Fetal Kidney	kidney
35	chr16:77421400-77426000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr16:77421600-77425000	Weak transcription	Adipose Nuclei	Adipose
37	chr16:77421800-77422400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr16:77421800-77425400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr16:77421800-77425400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr16:77422400-77422600	Enhancers	Fetal Kidney	kidney
41	chr16:77422400-77423400	Weak transcription	H1 Cell Line	embryonic stem cell

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