Variant report

Variant	nsv10427
Chromosome Location	chr4:3667975-3672782
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:3662225..3664999-chr4:3667626..3669601,2	MCF-7	breast:
2	chr4:3665678..3668678-chr4:3669594..3672149,4	MCF-7	breast:
3	chr4:3671273..3672822-chr4:3674829..3676545,2	K562	blood:
4	chr4:3668100..3670779-chr4:3672162..3674939,3	MCF-7	breast:
5	chr4:3666324..3668294-chr4:3766330..3768153,2	MCF-7	breast:
6	chr4:3672629..3675074-chr4:3688483..3690772,2	MCF-7	breast:
7	chr4:3668100..3670779-chr4:3672162..3674939,3	MCF-7	breast:
8	chr4:3665678..3668678-chr4:3669594..3672149,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000184160	chromatin interactions

Extended variants
information (count: 292 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:292 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563274618	chr4:3667997-3667998	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs180683684	chr4:3668082-3668083	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs542783929	chr4:3668115-3668116	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs545139690	chr4:3668141-3668142	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs187312342	chr4:3668213-3668214	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs528708779	chr4:3668230-3668231	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs145366727	chr4:3668236-3668237	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs565304586	chr4:3668241-3668242	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs141408576	chr4:3668254-3668255	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs550816373	chr4:3668260-3668261	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs560231698	chr4:3668273-3668274	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs536237351	chr4:3668319-3668320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs16844747	chr4:3668328-3668329	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs145182564	chr4:3668331-3668332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs58587991	chr4:3668346-3668347	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs551688157	chr4:3668358-3668359	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs557940667	chr4:3668359-3668360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs111957819	chr4:3668367-3668368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs12500510	chr4:3668371-3668372	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs534039169	chr4:3668372-3668373	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs76486907	chr4:3668375-3668376	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs555121064	chr4:3668377-3668378	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs113868838	chr4:3668378-3668379	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs192158747	chr4:3668382-3668383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs573711596	chr4:3668473-3668474	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs542624860	chr4:3668478-3668479	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs146664374	chr4:3668479-3668480	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs371146143	chr4:3668486-3668487	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs112877818	chr4:3668529-3668530	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs573408806	chr4:3668546-3668547	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs544739847	chr4:3668547-3668548	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs177767	chr4:3668569-3668570	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs531006566	chr4:3668584-3668585	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs550904407	chr4:3668629-3668630	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs561231821	chr4:3668633-3668634	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs530300075	chr4:3668653-3668654	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs62272061	chr4:3668659-3668660	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs140236191	chr4:3668671-3668672	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs539124575	chr4:3668699-3668700	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs6818291	chr4:3668709-3668710	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs114379979	chr4:3668768-3668769	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs111285995	chr4:3668778-3668779	Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs114944530	chr4:3668803-3668804	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs558784378	chr4:3668830-3668831	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs557318552	chr4:3668833-3668834	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs6837789	chr4:3668892-3668893	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs536124718	chr4:3668898-3668899	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs552945092	chr4:3668956-3668957	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs113960642	chr4:3668963-3668964	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs545135883	chr4:3668981-3668982	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Lung cancer	18438408	CNVD

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3658600-3678000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr4:3664400-3668400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:3664400-3668400	Weak transcription	Brain Germinal Matrix	brain
4	chr4:3667400-3668800	Enhancers	Primary B cells from peripheral blood	blood
5	chr4:3667600-3668200	Enhancers	GM12878-XiMat	blood
6	chr4:3668400-3669800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr4:3669400-3693400	Weak transcription	Right Atrium	heart
8	chr4:3669600-3670000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:3669800-3670400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr4:3670000-3677600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr4:3670400-3671600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr4:3670800-3671000	ZNF genes & repeats	Lung	lung
13	chr4:3670800-3671200	Bivalent Enhancer	Fetal Muscle Leg	muscle
14	chr4:3670800-3674000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr4:3671000-3673000	Weak transcription	Lung	lung
16	chr4:3671200-3671400	Enhancers	Brain Anterior Caudate	brain
17	chr4:3671400-3672200	Weak transcription	Brain Anterior Caudate	brain
18	chr4:3671600-3672400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr4:3672000-3672600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr4:3672200-3672400	Enhancers	Brain Anterior Caudate	brain
21	chr4:3672400-3672800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr4:3672400-3673400	Weak transcription	Brain Anterior Caudate	brain
23	chr4:3672600-3673000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin

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