Variant report

Variant	nsv461285
Chromosome Location	chr4:19053759-19112946
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	chr4:19078847..19080844-chr4:19084174..19086115,2	MCF-7	breast:
2	chr4:19078847..19080844-chr4:19084174..19086115,2	MCF-7	breast:

Extended variants
information (count: 520 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:520 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs207338	chr4:19053759-19053760	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs147320938	chr4:19053826-19053827	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs568288593	chr4:19053869-19053870	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs185878165	chr4:19053883-19053884	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs554318661	chr4:19053886-19053887	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs192454153	chr4:19053936-19053937	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs182072385	chr4:19053951-19053952	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs148235819	chr4:19053954-19053955	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs59038876	chr4:19054009-19054010	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs207337	chr4:19054015-19054016	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs544489391	chr4:19054044-19054045	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs550123340	chr4:19054097-19054098	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs562687422	chr4:19054111-19054112	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs529875854	chr4:19054123-19054124	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs542312648	chr4:19054184-19054185	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs560428171	chr4:19054185-19054186	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs367871613	chr4:19054226-19054227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs527779554	chr4:19054243-19054244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs116403463	chr4:19054263-19054264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs187166104	chr4:19054286-19054287	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs531906400	chr4:19054288-19054289	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550018993	chr4:19054295-19054296	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs191399587	chr4:19054304-19054305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs6814950	chr4:19054314-19054315	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs554331615	chr4:19054319-19054320	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs566479659	chr4:19054346-19054347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs118016644	chr4:19054372-19054373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs533034609	chr4:19054432-19054433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs531170892	chr4:19054438-19054439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs576872829	chr4:19054444-19054445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs538149247	chr4:19054447-19054448	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs371063458	chr4:19054480-19054481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs546918104	chr4:19054497-19054498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574674006	chr4:19054524-19054525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs541699331	chr4:19054552-19054553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs560281884	chr4:19054591-19054592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs572477570	chr4:19054645-19054646	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs139920362	chr4:19054662-19054663	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs564157626	chr4:19054701-19054702	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs531550404	chr4:19054708-19054709	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs182563563	chr4:19054719-19054720	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs186884346	chr4:19054745-19054746	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs149823715	chr4:19054766-19054767	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs169594	chr4:19054777-19054778	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs143211677	chr4:19054839-19054840	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs547701665	chr4:19054842-19054843	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs59876417	chr4:19054844-19054845	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs374597321	chr4:19054846-19054847	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs7693474	chr4:19054964-19054965	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs533665362	chr4:19055033-19055034	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

Disease	PMID	Source
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	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
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	17908972	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:19049600-19056200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr4:19052600-19054000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr4:19052600-19054000	Enhancers	Fetal Kidney	kidney
4	chr4:19052800-19054000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr4:19052800-19054200	Enhancers	Fetal Lung	lung
6	chr4:19053000-19054000	Enhancers	Colon Smooth Muscle	Colon
7	chr4:19053000-19054200	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr4:19053200-19053800	Enhancers	Fetal Stomach	stomach
9	chr4:19053400-19053800	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr4:19053400-19053800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr4:19053400-19054000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr4:19053400-19054000	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr4:19053400-19054000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr4:19053600-19054000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr4:19053600-19054000	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr4:19053600-19054000	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr4:19053600-19054000	Enhancers	Brain Germinal Matrix	brain
18	chr4:19053600-19054200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr4:19053800-19054200	Enhancers	Fetal Brain Male	brain
20	chr4:19054000-19054600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr4:19054000-19056200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr4:19054000-19056400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr4:19054200-19056400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr4:19054200-19056600	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr4:19054600-19055600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr4:19055600-19056000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr4:19056000-19056200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr4:19056200-19057200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr4:19056200-19057200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr4:19056200-19057800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr4:19056400-19057200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr4:19056400-19057400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr4:19056600-19056800	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr4:19057200-19057600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr4:19057600-19058000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr4:19058000-19058600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr4:19072400-19072800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr4:19072800-19073200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr4:19073200-19073600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr4:19075400-19076200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr4:19075600-19076000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr4:19075600-19076200	Enhancers	Fetal Kidney	kidney
43	chr4:19075800-19076200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr4:19076000-19077600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr4:19077600-19078200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr4:19079400-19079600	ZNF genes & repeats	Primary B cells from cord blood	blood
47	chr4:19079400-19079600	ZNF genes & repeats	Primary T cells from cord blood	blood
48	chr4:19079400-19079600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
49	chr4:19079400-19079600	Enhancers	Pancreatic Islets	Pancreatic Islet
50	chr4:19079400-19079600	Active TSS	HUVEC	blood vessel

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