Variant report

Variant	esv3517100
Chromosome Location	chr4:16293050-16294320
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:16289502..16291807-chr4:16293592..16295112,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112407889	chr4:16293070-16293071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs374791485	chr4:16293076-16293077	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs556259678	chr4:16293077-16293078	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs397879741	chr4:16293078-16293079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs557965331	chr4:16293092-16293093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs397768719	chr4:16293093-16293094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs181405304	chr4:16293137-16293138	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs571818940	chr4:16293140-16293141	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs16893287	chr4:16293152-16293153	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs560328527	chr4:16293153-16293154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs139027666	chr4:16293216-16293217	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs142107577	chr4:16293319-16293320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs563240706	chr4:16293408-16293409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs531596494	chr4:16293427-16293428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs55993741	chr4:16293448-16293449	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs2041541	chr4:16293458-16293459	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs78559048	chr4:16293493-16293494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs145832317	chr4:16293502-16293503	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs2041540	chr4:16293543-16293544	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs376652949	chr4:16293554-16293555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs549805497	chr4:16293568-16293569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs78878705	chr4:16293578-16293579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs148107666	chr4:16293608-16293609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs546932277	chr4:16293682-16293683	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs544989612	chr4:16293702-16293703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs142289225	chr4:16293716-16293717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs200435767	chr4:16293718-16293719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs397880178	chr4:16293720-16293721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs34068799	chr4:16293727-16293728	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs552302897	chr4:16293733-16293734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs118157661	chr4:16293747-16293748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs529375098	chr4:16294001-16294002	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs111980015	chr4:16294004-16294005	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs10023229	chr4:16294053-16294054	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs77623006	chr4:16294087-16294088	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs574148735	chr4:16294123-16294124	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs543245931	chr4:16294162-16294163	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs562997944	chr4:16294182-16294183	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs16893293	chr4:16294215-16294216	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185788867	chr4:16294216-16294217	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

Disease	PMID	Source
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:16291400-16293400	Enhancers	Fetal Kidney	kidney
2	chr4:16291600-16293200	Enhancers	Adipose Nuclei	Adipose
3	chr4:16291800-16293200	Enhancers	Fetal Brain Male	brain
4	chr4:16291800-16293400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr4:16292200-16293800	Weak transcription	Fetal Stomach	stomach
6	chr4:16292200-16296000	Weak transcription	NHDF-Ad	bronchial
7	chr4:16292400-16295800	Weak transcription	Osteobl	bone
8	chr4:16292600-16293800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr4:16292600-16293800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr4:16292600-16293800	Weak transcription	Fetal Muscle Leg	muscle
11	chr4:16292600-16295600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr4:16293400-16293800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr4:16293600-16294200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr4:16293600-16294200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr4:16293600-16295200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr4:16293600-16295200	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr4:16293800-16294200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr4:16293800-16294200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr4:16293800-16294200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr4:16293800-16294200	Enhancers	Fetal Stomach	stomach
21	chr4:16293800-16294400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr4:16293800-16294400	Enhancers	Fetal Muscle Leg	muscle
23	chr4:16293800-16294600	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr4:16293800-16295400	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr4:16293800-16295400	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr4:16294000-16295200	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr4:16294200-16294600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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