Variant report

Variant	esv2477584
Chromosome Location	chr4:3608235-3610479
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	chr4:3608635..3609305-chr8:108914123..108914952,2	MCF-7	breast:
2	chr4:3602447..3604350-chr4:3607841..3610609,2	K562	blood:

Extended variants
information (count: 248 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:248 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548190471	chr4:3608252-3608253	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs548659733	chr4:3608253-3608254	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs567390841	chr4:3608264-3608265	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs538986474	chr4:3608276-3608277	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs56260241	chr4:3608279-3608280	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs536406889	chr4:3608303-3608304	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs111203540	chr4:3608305-3608306	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs371617833	chr4:3608308-3608309	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs77849164	chr4:3608320-3608321	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs62636043	chr4:3608325-3608326	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs111203541	chr4:3608327-3608328	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs552997162	chr4:3608331-3608332	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs75760906	chr4:3608339-3608340	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs200217290	chr4:3608340-3608341	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs62274273	chr4:3608347-3608348	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs62274274	chr4:3608351-3608352	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs201206841	chr4:3608352-3608353	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs138454314	chr4:3608355-3608356	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs112086584	chr4:3608359-3608360	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs200389955	chr4:3608360-3608361	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs201538520	chr4:3608363-3608364	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs57629333	chr4:3608375-3608376	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs370389840	chr4:3608376-3608377	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs113322692	chr4:3608384-3608385	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs374116333	chr4:3608385-3608386	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs76400580	chr4:3608388-3608389	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs367983139	chr4:3608395-3608396	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs111362969	chr4:3608397-3608398	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs370830751	chr4:3608399-3608400	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs56153553	chr4:3608403-3608404	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs374208570	chr4:3608404-3608405	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs368887663	chr4:3608405-3608406	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs372184789	chr4:3608407-3608408	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs375853542	chr4:3608408-3608409	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs367882139	chr4:3608411-3608412	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs56159132	chr4:3608415-3608416	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs56389414	chr4:3608419-3608420	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs538265474	chr4:3608424-3608425	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs56223844	chr4:3608429-3608430	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs56080379	chr4:3608433-3608434	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs367641711	chr4:3608436-3608437	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs147416886	chr4:3608439-3608440	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs371593753	chr4:3608441-3608442	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs200798529	chr4:3608447-3608448	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs56297910	chr4:3608451-3608452	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs201471048	chr4:3608455-3608456	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs199771323	chr4:3608459-3608460	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs77316047	chr4:3608463-3608464	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs143833629	chr4:3608464-3608465	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs55773210	chr4:3608467-3608468	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:57)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	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
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21509527	CNVD
Ependymoma	20639864	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Lung cancer	18438408	CNVD
Schizophrenia	23813976	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3601600-3611600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr4:3605200-3611400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:3607000-3610000	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr4:3607600-3608600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr4:3608000-3608600	ZNF genes & repeats	Fetal Lung	lung
6	chr4:3608000-3609000	Enhancers	K562	blood
7	chr4:3608600-3609600	Weak transcription	Fetal Lung	lung
8	chr4:3608600-3609600	Bivalent Enhancer	Placenta	Placenta
9	chr4:3608600-3611200	Bivalent Enhancer	Fetal Muscle Leg	muscle
10	chr4:3608800-3609600	ZNF genes & repeats	Spleen	Spleen
11	chr4:3608800-3611400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
12	chr4:3609000-3609200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr4:3609000-3611000	ZNF genes & repeats	Fetal Stomach	stomach
14	chr4:3609400-3610000	Enhancers	Brain Germinal Matrix	brain
15	chr4:3609400-3610000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
16	chr4:3609400-3610200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
17	chr4:3609400-3610400	Enhancers	Fetal Brain Female	brain
18	chr4:3609400-3610800	Enhancers	Fetal Brain Male	brain
19	chr4:3609600-3610000	Enhancers	Adipose Nuclei	Adipose
20	chr4:3609600-3610000	Enhancers	Fetal Lung	lung
21	chr4:3609600-3610200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
22	chr4:3609600-3610200	Enhancers	HSMMtube	muscle
23	chr4:3609600-3610400	Weak transcription	Spleen	Spleen
24	chr4:3609800-3610000	Enhancers	Right Ventricle	heart
25	chr4:3610000-3614600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr4:3610400-3611400	ZNF genes & repeats	Fetal Brain Female	brain
27	chr4:3610400-3612200	ZNF genes & repeats	Spleen	Spleen

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