Variant report

Variant	esv15918
Chromosome Location	chr4:553618-560788
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:560309..561984-chr4:571273..573145,2	K562	blood:
2	chr4:560447..562765-chr4:571972..574666,2	MCF-7	breast:
3	chr4:560744..563501-chr4:564361..568313,3	K562	blood:
4	chr11:62608635..62609223-chr4:554457..554977,3	Hela-S3	cervix:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PIGG-1	chr4:560752-561223	l_2577_chr4:560751-568807_brain

Variant related genes	Relation type
ENSG00000273238	chromatin interactions

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

Variant overlapped rSNPs/rCNVs (count:60 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs150398237	chr4:554201-554202	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs562297254	chr4:554233-554234	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs61643877	chr4:554248-554249	Bivalent Enhancer Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs147854222	chr4:554348-554349	Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs533568490	chr4:554430-554431	ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs141407520	chr4:554464-554465	ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs540890963	chr4:554470-554471	ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs531249976	chr4:554477-554478	ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs549371162	chr4:554519-554520	ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs35099398	chr4:554543-554544	ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs535051531	chr4:554545-554546	ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs146984058	chr4:554554-554555	ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs182126544	chr4:554562-554563	ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs138070752	chr4:554583-554584	ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs538777290	chr4:554589-554590	ZNF genes & repeats Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs556886232	chr4:554630-554631	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs149507072	chr4:554667-554668	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs143095524	chr4:554668-554669	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs186273950	chr4:554695-554696	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs572496815	chr4:554706-554707	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs77060885	chr4:554710-554711	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs564949152	chr4:554715-554716	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs189725223	chr4:554780-554781	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs545550844	chr4:554819-554820	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs563896415	chr4:554822-554823	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs371186808	chr4:554829-554830	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs549684826	chr4:554855-554856	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs567997859	chr4:554873-554874	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs551364987	chr4:554877-554878	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs528480612	chr4:554892-554893	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs546679391	chr4:554911-554912	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs571673144	chr4:554915-554916	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs538770489	chr4:554921-554922	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs557090659	chr4:554956-554957	Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs568688453	chr4:555059-555060	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs536083462	chr4:555065-555066	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs554441398	chr4:555088-555089	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs59786390	chr4:555109-555110	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs572805926	chr4:555179-555180	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs148216921	chr4:555310-555311	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs530131577	chr4:555328-555329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs76497585	chr4:555343-555344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs371725198	chr4:555345-555346	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs372225735	chr4:555368-555369	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs541763216	chr4:555416-555417	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs560176315	chr4:555422-555423	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs576845729	chr4:555423-555424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs543953780	chr4:555430-555431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs562609901	chr4:555485-555486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs181323098	chr4:555496-555497	Weak transcription Enhancers	n/a	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:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:554200-554400	Enhancers	Brain Angular Gyrus	brain
2	chr4:554200-554800	Enhancers	Esophagus	oesophagus
3	chr4:554200-555000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
4	chr4:554400-554600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr4:554400-555200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr4:554400-555200	Bivalent Enhancer	NHEK	skin
7	chr4:554600-555000	Enhancers	Brain Hippocampus Middle	brain
8	chr4:554600-555200	Bivalent Enhancer	Placenta	Placenta
9	chr4:554600-555600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr4:554600-555600	Enhancers	HMEC	breast
11	chr4:554800-555200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr4:554800-555200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr4:555000-555200	Enhancers	Brain Angular Gyrus	brain
14	chr4:555000-555800	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr4:555600-555800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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