Variant report

Variant	nsv1008773
Chromosome Location	chr4:87120148-87138765
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:87118979..87120763-chr4:87124229..87126055,2	K562	blood:
2	chr4:87118979..87120763-chr4:87124229..87126055,2	K562	blood:
3	chr4:87132187..87133769-chr4:87135857..87137593,2	MCF-7	breast:
4	chr4:87134159..87136485-chr4:87181961..87184950,2	MCF-7	breast:
5	chr4:87132187..87133769-chr4:87135857..87137593,2	MCF-7	breast:

Extended variants
information (count: 456 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:456 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112751355	chr4:87120204-87120205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs548536214	chr4:87120267-87120268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs546716961	chr4:87120283-87120284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs182736411	chr4:87120290-87120291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs566343595	chr4:87120309-87120310	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs386676920	chr4:87120371-87120372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs75300909	chr4:87120372-87120373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs571853868	chr4:87120386-87120387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs138527394	chr4:87120496-87120497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554260220	chr4:87120515-87120516	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs17253274	chr4:87120544-87120545	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs150062674	chr4:87120565-87120566	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs375645224	chr4:87120572-87120573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs544773712	chr4:87120645-87120646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs536726725	chr4:87120749-87120750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs80233441	chr4:87120752-87120753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs2126021	chr4:87120763-87120764	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs113453809	chr4:87120810-87120811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs188417368	chr4:87120814-87120815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs192689883	chr4:87120949-87120950	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs182960538	chr4:87120982-87120983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs74901842	chr4:87120996-87120997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs187546378	chr4:87121017-87121018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs141980723	chr4:87121030-87121031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs542295392	chr4:87121034-87121035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs28613556	chr4:87121043-87121044	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs564142962	chr4:87121161-87121162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs17011459	chr4:87121170-87121171	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs17011460	chr4:87121214-87121215	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs191285446	chr4:87121221-87121222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs184993962	chr4:87121258-87121259	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs528991600	chr4:87121264-87121265	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs114483829	chr4:87121280-87121281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs16996040	chr4:87121292-87121293	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs111771166	chr4:87121321-87121322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs77913324	chr4:87121383-87121384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548691332	chr4:87121384-87121385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575565516	chr4:87121394-87121395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs570074161	chr4:87121418-87121419	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552800175	chr4:87121442-87121443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs536998220	chr4:87121450-87121451	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556443616	chr4:87121585-87121586	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs75784330	chr4:87121598-87121599	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs538910275	chr4:87121634-87121635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553580931	chr4:87121667-87121668	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs571908556	chr4:87121736-87121737	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs78550851	chr4:87121769-87121770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs375011038	chr4:87121796-87121797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs560611874	chr4:87121800-87121801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs575994600	chr4:87121816-87121817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Colorectal cancer	20459617	CNVD
Cancer	20164919	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:87109400-87122200	Weak transcription	Brain Anterior Caudate	brain
2	chr4:87111400-87124000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr4:87113200-87123400	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr4:87115200-87120800	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr4:87115400-87120200	Weak transcription	Brain Substantia Nigra	brain
6	chr4:87115400-87122200	Weak transcription	Brain Cingulate Gyrus	brain
7	chr4:87115600-87122200	Weak transcription	Brain Hippocampus Middle	brain
8	chr4:87115600-87123800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr4:87119600-87122000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr4:87119600-87122200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr4:87119600-87123800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr4:87119800-87122200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr4:87122000-87122400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr4:87122200-87122400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr4:87122200-87122400	Enhancers	Brain Anterior Caudate	brain
16	chr4:87122200-87122400	Enhancers	Brain Cingulate Gyrus	brain
17	chr4:87122200-87122400	Enhancers	Brain Substantia Nigra	brain
18	chr4:87122200-87122600	Enhancers	Brain Hippocampus Middle	brain
19	chr4:87122200-87124400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr4:87122400-87122800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr4:87122400-87123600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr4:87122600-87123800	Weak transcription	Brain Hippocampus Middle	brain
23	chr4:87122800-87124600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr4:87123200-87124200	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr4:87123400-87124600	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr4:87123400-87124600	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr4:87123400-87124600	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr4:87123400-87124600	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr4:87123600-87124400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr4:87123800-87124000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr4:87123800-87124200	Enhancers	Brain Hippocampus Middle	brain
32	chr4:87123800-87124400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
33	chr4:87123800-87124400	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr4:87123800-87124600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr4:87123800-87124800	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr4:87123800-87125200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr4:87124000-87125000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr4:87132400-87133200	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr4:87132800-87139800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr4:87135000-87136800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr4:87136400-87140000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr4:87136800-87140000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr4:87138000-87138800	Enhancers	NHDF-Ad	bronchial
44	chr4:87138200-87138800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr4:87138600-87138800	Enhancers	Pancreatic Islets	Pancreatic Islet
46	chr4:87138600-87138800	Enhancers	A549	lung

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