Variant report

Variant	nsv966349
Chromosome Location	chr4:25701-27597
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:27510..29241-chr4:49071..51866,2	K562	blood:
2	chr4:27510..30529-chr4:49071..53296,4	K562	blood:
3	chr4:26589..30670-chr4:53416..55763,3	K562	blood:

Variant related genes	Relation type
ENSG00000248302	chromatin interactions
ENSG00000197701	chromatin interactions

Extended variants
information (count: 51 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:51 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200329525	chr4:25709-25710	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs548193541	chr4:25741-25742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs201579035	chr4:25749-25750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs201819458	chr4:25797-25798	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200256193	chr4:25805-25806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs566806443	chr4:25823-25824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs10155269	chr4:25881-25882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs527585807	chr4:26131-26132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs555981982	chr4:26150-26151	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs552385461	chr4:26170-26171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs376314237	chr4:26178-26179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs2213687	chr4:26179-26180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs372072993	chr4:26195-26196	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs2213688	chr4:26202-26203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs2213689	chr4:26220-26221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570639684	chr4:26264-26265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs2078130	chr4:26490-26491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs539158046	chr4:26506-26507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs557458871	chr4:26523-26524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569284646	chr4:26551-26552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs536695755	chr4:26559-26560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs1984426	chr4:26586-26587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs554655303	chr4:26600-26601	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs1988270	chr4:26844-26845	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573514401	chr4:26862-26863	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs540547665	chr4:26970-26971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs374617827	chr4:26993-26994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs3856983	chr4:27035-27036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs2780418	chr4:27134-27135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs112368412	chr4:27158-27159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs113481057	chr4:27292-27293	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs76770332	chr4:27296-27297	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs75414024	chr4:27333-27334	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs10452298	chr4:27371-27372	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs10452284	chr4:27384-27385	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs111243424	chr4:27443-27444	ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs558746060	chr4:27451-27452	ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs576986468	chr4:27471-27472	ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs55966434	chr4:27528-27529	ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs113321029	chr4:27530-27531	ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs543910663	chr4:27538-27539	ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs202216287	chr4:27539-27540	ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs57270711	chr4:27543-27544	ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs143864777	chr4:27544-27545	ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs367883839	chr4:27545-27546	ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs75808459	chr4:27546-27547	ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs10452299	chr4:27548-27549	ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs562195121	chr4:27550-27551	ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs71164490	chr4:27551-27552	ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs79349000	chr4:27559-27560	ZNF genes & repeats Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Cancer	20164920	CNVD
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
early-passage human iPS cells	21368824	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Breast cancer	17142309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Lung cancer	18438408	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:18800-27600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr4:21000-27200	Weak transcription	Dnd41	blood
3	chr4:27200-27400	Enhancers	Adipose Nuclei	Adipose
4	chr4:27200-28000	Enhancers	Dnd41	blood
5	chr4:27200-28800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr4:27200-29200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:27200-30200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
8	chr4:27400-27600	Bivalent Enhancer	Adipose Nuclei	Adipose
9	chr4:27400-29600	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr4:27400-29600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
11	chr4:27400-29600	ZNF genes & repeats	Fetal Muscle Trunk	muscle
12	chr4:27400-30000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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