Variant report

Variant	esv3322011
Chromosome Location	chr4:563952-568150
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:564200..566117-chr4:572319..574456,3	K562	blood:
2	chr4:565489..567950-chr4:568759..571284,3	MCF-7	breast:
3	chr4:564165..566404-chr4:569838..571549,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF721-4	chr4:567669-568201	ENSG00000273238.1
2	lnc-PIGG-1	chr4:562509-568807	l_2577_chr4:560751-568807_brain

Extended variants
information (count: 198 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:198 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192823364	chr4:563952-563953	ZNF genes & repeats Bivalent Enhancer Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
2	rs112394207	chr4:563958-563959	ZNF genes & repeats Bivalent Enhancer Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
3	rs13139052	chr4:563967-563968	ZNF genes & repeats Bivalent Enhancer Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs184968217	chr4:563980-563981	ZNF genes & repeats Bivalent Enhancer Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
5	rs75359975	chr4:563981-563982	ZNF genes & repeats Bivalent Enhancer Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
6	rs78401319	chr4:563985-563986	ZNF genes & repeats Bivalent Enhancer Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
7	rs149105235	chr4:563996-563997	ZNF genes & repeats Bivalent Enhancer Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
8	rs542343610	chr4:564012-564013	ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
9	rs77114826	chr4:564039-564040	ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs369295207	chr4:564065-564066	ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs571029032	chr4:564076-564077	ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
12	rs538799274	chr4:564126-564127	ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs574149013	chr4:564172-564173	ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
14	rs114714674	chr4:564182-564183	ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
15	rs560052949	chr4:564190-564191	ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
16	rs547592208	chr4:564199-564200	ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
17	rs111920659	chr4:564200-564201	ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
18	rs142168449	chr4:564205-564206	ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
19	rs151185045	chr4:564211-564212	ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
20	rs568466459	chr4:564213-564214	ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
21	rs370543400	chr4:564218-564219	ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
22	rs140287273	chr4:564225-564226	ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
23	rs115763828	chr4:564227-564228	ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
24	rs530973266	chr4:564247-564248	ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
25	rs549204511	chr4:564258-564259	ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
26	rs567749954	chr4:564261-564262	ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
27	rs189420554	chr4:564268-564269	ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
28	rs145397019	chr4:564293-564294	ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
29	rs546408480	chr4:564298-564299	ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
30	rs565973159	chr4:564318-564319	ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
31	rs538526473	chr4:564324-564325	ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
32	rs556872335	chr4:564325-564326	ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
33	rs568751206	chr4:564334-564335	ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
34	rs536540327	chr4:564375-564376	ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
35	rs536293837	chr4:564428-564429	Weak transcription Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
36	rs554322491	chr4:564474-564475	Weak transcription Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
37	rs28671384	chr4:564543-564544	Weak transcription Bivalent Enhancer	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs533313145	chr4:564546-564547	Weak transcription Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
39	rs137924309	chr4:564583-564584	Weak transcription Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
40	rs578233380	chr4:564604-564605	Weak transcription Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
41	rs75307610	chr4:564639-564640	Weak transcription Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
42	rs564053249	chr4:564646-564647	Weak transcription Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
43	rs530763886	chr4:564664-564665	Weak transcription Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
44	rs192461602	chr4:564665-564666	Weak transcription Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
45	rs576342160	chr4:564720-564721	Weak transcription Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
46	rs113570264	chr4:564723-564724	Weak transcription Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
47	rs561193759	chr4:564757-564758	Weak transcription Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
48	rs528586698	chr4:564768-564769	Weak transcription Bivalent Enhancer	lncRNA	n/a	Overlapped CNVs	n/a
49	rs546719605	chr4:564821-564822	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
50	rs571096606	chr4:564824-564825	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Myelofibrosis	22110671	CNVD
Wolf-Hirschhorn syndrome	21549014	CNVD
Breast cancer	21806811	CNVD
Wolf-Hirschhorn syndrome	22283845	CNVD
Wolf-Hirschhorn syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Wolf-Hirschhorn syndrome	22470819	CNVD
Wolf-Hirschhorn syndrome	18541967	CNVD
sporadic birth defects	19047251	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Retinitis pigmentosa	18421352	CNVD
Wolf-Hirschhorn syndrome	19259404	CNVD
Bladder cancer	19242612	CNVD
Breast cancer	19242612	CNVD
Congenital anomalies of the kidney and urinary tract	19242612	CNVD
abnormal development	18461090	CNVD
Olfactory neuroblastoma	18408657	CNVD
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
Breast cancer	17142309	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:563800-564000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:563800-564400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr4:563800-564400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr4:564000-564400	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr4:564200-564400	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr4:564200-564400	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr4:564400-564800	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr4:564400-565800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr4:564600-564800	Bivalent Enhancer	Placenta	Placenta
10	chr4:565600-565800	Bivalent Enhancer	Fetal Brain Female	brain
11	chr4:565600-567200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr4:565800-566200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr4:565800-566200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr4:565800-566200	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
15	chr4:565800-566200	ZNF genes & repeats	Gastric	stomach
16	chr4:565800-567000	Enhancers	Brain Angular Gyrus	brain
17	chr4:565800-567800	Bivalent Enhancer	Fetal Brain Male	brain
18	chr4:566000-566200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr4:566200-568600	Weak transcription	Gastric	stomach
20	chr4:566600-567200	Bivalent Enhancer	Fetal Brain Female	brain
21	chr4:566800-567000	Bivalent Enhancer	Brain Cingulate Gyrus	brain
22	chr4:567000-567400	Bivalent Enhancer	Brain Anterior Caudate	brain
23	chr4:567000-567400	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
24	chr4:567200-567400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
25	chr4:567200-567600	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
26	chr4:567200-572200	Active TSS	Brain Angular Gyrus	brain
27	chr4:567400-567600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr4:567400-567600	Bivalent/Poised TSS	Brain Anterior Caudate	brain
29	chr4:567400-567600	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
30	chr4:567400-567600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
31	chr4:567400-568800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr4:567400-569000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
33	chr4:567600-567800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
34	chr4:567600-567800	Bivalent Enhancer	Fetal Brain Female	brain
35	chr4:567600-568200	Weak transcription	Spleen	Spleen
36	chr4:567600-570800	Active TSS	Brain Inferior Temporal Lobe	brain
37	chr4:567800-568200	Flanking Bivalent TSS/Enh	Fetal Brain Male	brain
38	chr4:567800-568200	Bivalent/Poised TSS	Fetal Brain Female	brain
39	chr4:568000-568400	Bivalent Enhancer	Primary hematopoietic stem cells	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links