Variant report

Variant	esv3404109
Chromosome Location	chr4:3610054-3614852
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:3602447..3604350-chr4:3607841..3610609,2	K562	blood:
2	chr4:3614332..3616102-chr4:3632475..3634431,2	MCF-7	breast:
3	chr4:3614687..3616600-chr4:3620839..3622694,2	MCF-7	breast:

Extended variants
information (count: 342 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:342 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs76653963	chr4:3610062-3610063	ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs33966958	chr4:3610065-3610066	ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs73792541	chr4:3610107-3610108	ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs534968111	chr4:3610112-3610113	ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs36128475	chr4:3610116-3610117	ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs557757268	chr4:3610122-3610123	ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs577610054	chr4:3610135-3610136	ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs2314425	chr4:3610166-3610167	ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs754322	chr4:3610175-3610176	ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs557134990	chr4:3610178-3610179	ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs111595236	chr4:3610182-3610183	ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs2872636	chr4:3610188-3610189	ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs2314426	chr4:3610201-3610202	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
14	rs541632730	chr4:3610213-3610214	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
15	rs79003013	chr4:3610214-3610215	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
16	rs562032241	chr4:3610230-3610231	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
17	rs527621211	chr4:3610237-3610238	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
18	rs376949807	chr4:3610271-3610272	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
19	rs369346329	chr4:3610274-3610275	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
20	rs754323	chr4:3610278-3610279	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
21	rs201887694	chr4:3610287-3610288	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
22	rs182936791	chr4:3610298-3610299	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
23	rs116389041	chr4:3610310-3610311	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
24	rs2314427	chr4:3610318-3610319	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs2872637	chr4:3610331-3610332	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs76220340	chr4:3610332-3610333	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs2077371	chr4:3610336-3610337	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs754324	chr4:3610346-3610347	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs529504177	chr4:3610360-3610361	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs371514619	chr4:3610364-3610365	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs2872638	chr4:3610393-3610394	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs549345181	chr4:3610426-3610427	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs566241408	chr4:3610447-3610448	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs4064918	chr4:3610453-3610454	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs62274283	chr4:3610480-3610481	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs535030389	chr4:3610481-3610482	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs62274284	chr4:3610486-3610487	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs558019640	chr4:3610518-3610519	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs386670744	chr4:3610524-3610525	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs2314429	chr4:3610526-3610527	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
41	rs537003077	chr4:3610575-3610576	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs557450535	chr4:3610579-3610580	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs574016928	chr4:3610585-3610586	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs187317730	chr4:3610607-3610608	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs111365761	chr4:3610636-3610637	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs3894618	chr4:3610651-3610652	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs113873622	chr4:3610708-3610709	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
48	rs541381229	chr4:3610745-3610746	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
49	rs201788077	chr4:3610760-3610761	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
50	rs4037447	chr4:3610762-3610763	ZNF genes & repeats Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Schizophrenia	23813976	CNVD

Chromatin state (count:61 , 50 per page) page: 1 2

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	chr4:3608600-3611200	Bivalent Enhancer	Fetal Muscle Leg	muscle
4	chr4:3608800-3611400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
5	chr4:3609000-3611000	ZNF genes & repeats	Fetal Stomach	stomach
6	chr4:3609400-3610200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
7	chr4:3609400-3610400	Enhancers	Fetal Brain Female	brain
8	chr4:3609400-3610800	Enhancers	Fetal Brain Male	brain
9	chr4:3609600-3610200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
10	chr4:3609600-3610200	Enhancers	HSMMtube	muscle
11	chr4:3609600-3610400	Weak transcription	Spleen	Spleen
12	chr4:3610000-3614600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr4:3610400-3611400	ZNF genes & repeats	Fetal Brain Female	brain
14	chr4:3610400-3612200	ZNF genes & repeats	Spleen	Spleen
15	chr4:3610800-3611400	ZNF genes & repeats	Fetal Brain Male	brain
16	chr4:3611000-3611400	Enhancers	Esophagus	oesophagus
17	chr4:3611200-3611600	Enhancers	Fetal Muscle Leg	muscle
18	chr4:3611400-3612800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr4:3611600-3612600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr4:3611600-3614400	Weak transcription	Fetal Muscle Leg	muscle
21	chr4:3612600-3613200	ZNF genes & repeats	Spleen	Spleen
22	chr4:3612600-3615000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr4:3612800-3613200	ZNF genes & repeats	Pancreas	Pancrea
24	chr4:3612800-3613400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr4:3612800-3613400	ZNF genes & repeats	Gastric	stomach
26	chr4:3613200-3613400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr4:3613200-3613800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
28	chr4:3613200-3614600	Weak transcription	Pancreas	Pancrea
29	chr4:3613200-3614800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr4:3613200-3615600	Weak transcription	Adipose Nuclei	Adipose
31	chr4:3613400-3613600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr4:3613400-3614600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr4:3613400-3614600	Weak transcription	Gastric	stomach
34	chr4:3613600-3614400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr4:3614400-3614600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr4:3614400-3614600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr4:3614400-3614600	Weak transcription	Spleen	Spleen
38	chr4:3614400-3615000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr4:3614400-3616400	Enhancers	Fetal Muscle Leg	muscle
40	chr4:3614600-3614800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr4:3614600-3614800	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr4:3614600-3614800	Enhancers	Fetal Brain Female	brain
43	chr4:3614600-3615000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr4:3614600-3615000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr4:3614600-3615000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
46	chr4:3614600-3615000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr4:3614600-3615000	ZNF genes & repeats	Fetal Brain Male	brain
48	chr4:3614600-3615000	ZNF genes & repeats	Fetal Kidney	kidney
49	chr4:3614600-3615600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr4:3614600-3616000	Enhancers	Gastric	stomach

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