Variant report

Variant	nsv1007891
Chromosome Location	chr4:87230601-87252524
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	chr4:87226178..87227870-chr4:87231793..87233350,2	MCF-7	breast:

Extended variants
information (count: 789 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:789 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12641387	chr4:87230601-87230602	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs147246404	chr4:87230642-87230643	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs542340200	chr4:87230643-87230644	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs138992761	chr4:87230665-87230666	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs116512899	chr4:87230706-87230707	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs550078541	chr4:87230742-87230743	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs192483957	chr4:87230744-87230745	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs184748469	chr4:87230780-87230781	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs547202154	chr4:87230866-87230867	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs565493959	chr4:87230926-87230927	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs573686554	chr4:87230946-87230947	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs542046120	chr4:87230972-87230973	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs535979416	chr4:87231036-87231037	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs547958573	chr4:87231049-87231050	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs141490604	chr4:87231221-87231222	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs536668387	chr4:87231223-87231224	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs564240115	chr4:87231250-87231251	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs114808255	chr4:87231259-87231260	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs150844986	chr4:87231307-87231308	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs113020619	chr4:87231370-87231371	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs553650001	chr4:87231393-87231394	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs7654907	chr4:87231395-87231396	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs112391168	chr4:87231418-87231419	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs74531962	chr4:87231476-87231477	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs541361581	chr4:87231523-87231524	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs545894722	chr4:87231538-87231539	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs7654796	chr4:87231564-87231565	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs368137950	chr4:87231620-87231621	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs531319553	chr4:87231643-87231644	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs547289231	chr4:87231682-87231683	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs559154352	chr4:87231766-87231767	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs7655217	chr4:87231768-87231769	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs548335208	chr4:87231809-87231810	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs569665382	chr4:87231818-87231819	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs4693763	chr4:87231849-87231850	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs551888945	chr4:87231861-87231862	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs570013696	chr4:87231862-87231863	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs529429997	chr4:87231885-87231886	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs570458960	chr4:87231960-87231961	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs374044116	chr4:87231962-87231963	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs192034770	chr4:87231985-87231986	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs553688720	chr4:87232003-87232004	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs575114662	chr4:87232033-87232034	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs11737795	chr4:87232088-87232089	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs10516773	chr4:87232146-87232147	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs201315346	chr4:87232172-87232173	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs575661719	chr4:87232177-87232178	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs143712904	chr4:87232188-87232189	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs34816270	chr4:87232189-87232190	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs374205572	chr4:87232221-87232222	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Lung cancer	18438408	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Olfactory neuroblastoma	18408657	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Pancreatic cancer	17952125	CNVD
Colorectal cancer	20459617	CNVD
Cancer	20164919	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Breast cancer	22522925	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87216200-87231200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:87222400-87239000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr4:87224000-87242600	Weak transcription	Fetal Stomach	stomach
4	chr4:87224400-87238200	Weak transcription	Brain Anterior Caudate	brain
5	chr4:87228600-87232400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr4:87228600-87235000	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr4:87228800-87239000	Weak transcription	Brain Cingulate Gyrus	brain
8	chr4:87229800-87233600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr4:87230000-87231800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr4:87230400-87231000	Enhancers	Brain Angular Gyrus	brain
11	chr4:87230400-87231200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr4:87230400-87231200	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr4:87230400-87231400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr4:87230400-87231400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr4:87230400-87238200	Weak transcription	Brain Substantia Nigra	brain
16	chr4:87230600-87231000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr4:87230600-87231400	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr4:87230600-87231400	Enhancers	H1 Cell Line	embryonic stem cell
19	chr4:87230800-87231400	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr4:87231000-87231400	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr4:87231000-87231400	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr4:87231000-87238800	Weak transcription	Brain Angular Gyrus	brain
23	chr4:87231200-87231400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr4:87231200-87233800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr4:87231400-87233000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr4:87231800-87232000	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr4:87232000-87232400	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr4:87232400-87232600	Enhancers	Pancreatic Islets	Pancreatic Islet
29	chr4:87232600-87247400	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr4:87233000-87237200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr4:87233600-87234200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr4:87233800-87234000	Enhancers	HSMMtube	muscle
33	chr4:87234400-87234600	Enhancers	Fetal Brain Male	brain
34	chr4:87234600-87235200	Weak transcription	Fetal Brain Male	brain
35	chr4:87234800-87235200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr4:87235000-87235400	Enhancers	Brain Inferior Temporal Lobe	brain
37	chr4:87235200-87235800	Enhancers	Fetal Brain Male	brain
38	chr4:87235200-87250200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr4:87235400-87238200	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr4:87235600-87237000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr4:87235800-87242200	Weak transcription	Fetal Brain Male	brain
42	chr4:87237000-87237800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr4:87237200-87239200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr4:87237800-87239400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr4:87238200-87239200	Enhancers	Brain Anterior Caudate	brain
46	chr4:87238200-87239200	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr4:87238200-87239200	Enhancers	Brain Substantia Nigra	brain
48	chr4:87238200-87239400	Enhancers	Brain Hippocampus Middle	brain
49	chr4:87238800-87239400	Enhancers	Brain Angular Gyrus	brain
50	chr4:87239000-87239200	Enhancers	Brain Cingulate Gyrus	brain

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