Variant report

Variant	esv3327164
Chromosome Location	chr4:7416251-7420649
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:7420470..7422077-chr4:7425743..7427334,2	MCF-7	breast:
2	chr4:7412059..7414681-chr4:7420210..7422240,3	MCF-7	breast:
3	chr4:7410518..7413253-chr4:7418283..7420136,2	K562	blood:
4	chr4:7368964..7371820-chr4:7419661..7422236,2	K562	blood:

Extended variants
information (count: 286 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:286 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184993704	chr4:7416269-7416270	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs144664511	chr4:7416295-7416296	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs532510363	chr4:7416302-7416303	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs547579033	chr4:7416304-7416305	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs187731738	chr4:7416306-7416307	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs536490003	chr4:7416384-7416385	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs560568450	chr4:7416395-7416396	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
8	rs548374348	chr4:7416399-7416400	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs375579166	chr4:7416409-7416410	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs572873128	chr4:7416412-7416413	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs537331143	chr4:7416450-7416451	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
12	rs191592608	chr4:7416493-7416494	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
13	rs527699362	chr4:7416543-7416544	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs184473939	chr4:7416551-7416552	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs189716270	chr4:7416574-7416575	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs181241035	chr4:7416588-7416589	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs184614022	chr4:7416598-7416599	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs189027615	chr4:7416619-7416620	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs542890257	chr4:7416652-7416653	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs368367790	chr4:7416654-7416655	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs199790981	chr4:7416660-7416661	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs561041814	chr4:7416663-7416664	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs576318615	chr4:7416665-7416666	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs560995754	chr4:7416667-7416668	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs543366391	chr4:7416780-7416781	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs116220881	chr4:7416803-7416804	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs73796556	chr4:7416812-7416813	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs79821448	chr4:7416844-7416845	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs543699590	chr4:7416859-7416860	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs561840287	chr4:7416873-7416874	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs112717744	chr4:7416877-7416878	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs530115000	chr4:7416888-7416889	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs112023239	chr4:7416936-7416937	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs548409482	chr4:7416983-7416984	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs181378151	chr4:7417025-7417026	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs567674453	chr4:7417050-7417051	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs114251751	chr4:7417055-7417056	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs552596747	chr4:7417109-7417110	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs571081791	chr4:7417116-7417117	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs538334240	chr4:7417125-7417126	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs550444532	chr4:7417126-7417127	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs553799272	chr4:7417132-7417133	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs76623120	chr4:7417147-7417148	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs186290579	chr4:7417148-7417149	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs536335898	chr4:7417229-7417230	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs7684383	chr4:7417241-7417242	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs28411133	chr4:7417246-7417247	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs80299429	chr4:7417287-7417288	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs111802465	chr4:7417307-7417308	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs77961420	chr4:7417342-7417343	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	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
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	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
Urothelial carcinoma	21177765	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Schizophrenia	22241247	CNVD
Autosomal-dominant microtia	18179897	CNVD
Glioma	17123091	CNVD
Colorectal cancer	20459617	CNVD
Breast cancer	17133270	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7413600-7418200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:7414200-7418200	Weak transcription	Brain Anterior Caudate	brain
3	chr4:7414200-7421400	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr4:7414600-7422200	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr4:7415400-7416400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
6	chr4:7415600-7416400	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
7	chr4:7415800-7417200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr4:7416000-7417400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr4:7416200-7416800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
10	chr4:7416200-7418200	Weak transcription	Fetal Brain Male	brain
11	chr4:7416400-7417800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr4:7416600-7416800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
13	chr4:7416600-7417200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
14	chr4:7416800-7417000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
15	chr4:7416800-7417000	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
16	chr4:7416800-7417200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
17	chr4:7416800-7417200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
18	chr4:7416800-7417200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr4:7416800-7417400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
20	chr4:7416800-7418400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
21	chr4:7417000-7417200	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr4:7417000-7417400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
23	chr4:7417000-7417600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
24	chr4:7417000-7418400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
25	chr4:7417200-7417400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
26	chr4:7417200-7417600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
27	chr4:7417400-7417600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
28	chr4:7417400-7417800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
29	chr4:7417800-7418400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
30	chr4:7418200-7418400	Bivalent Enhancer	Duodenum Mucosa	Duodenum
31	chr4:7418200-7418600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr4:7418200-7418600	Enhancers	Esophagus	oesophagus
33	chr4:7418200-7418600	ZNF genes & repeats	Fetal Brain Male	brain
34	chr4:7418200-7418600	ZNF genes & repeats	Fetal Kidney	kidney
35	chr4:7418200-7418600	Flanking Active TSS	Fetal Lung	lung
36	chr4:7418200-7418800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr4:7418200-7418800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr4:7418400-7418600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
39	chr4:7418600-7418800	Enhancers	Fetal Brain Male	brain
40	chr4:7418800-7429200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr4:7419800-7420200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell

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