Variant report

Variant	nsv517536
Chromosome Location	chr4:151199080-151199497
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2290846	chr4:151199080-151199081	Strong transcription ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs141577859	chr4:151199108-151199109	Strong transcription ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs116828023	chr4:151199145-151199146	Strong transcription ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs369653788	chr4:151199151-151199152	Strong transcription ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs140288109	chr4:151199155-151199156	Strong transcription ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs201763822	chr4:151199165-151199166	Strong transcription ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs533802949	chr4:151199167-151199168	Strong transcription ZNF genes & repeats Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554047786	chr4:151199205-151199206	Strong transcription Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs370003732	chr4:151199206-151199207	Strong transcription Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs573724315	chr4:151199241-151199242	Strong transcription Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs186944645	chr4:151199294-151199295	Strong transcription Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs555974883	chr4:151199295-151199296	Strong transcription Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs575722307	chr4:151199337-151199338	Strong transcription Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs569185104	chr4:151199350-151199351	Strong transcription Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs140765125	chr4:151199366-151199367	Strong transcription Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs536671639	chr4:151199369-151199370	Strong transcription Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs115849501	chr4:151199380-151199381	Strong transcription Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs564685750	chr4:151199423-151199424	Strong transcription Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs2290847	chr4:151199497-151199498	Strong transcription Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:73)

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
Intellectual disability	22102821	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	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
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Breast cancer	16272173	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Esophageal cancer	21851588	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Breast cancer	21364760	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	17588203	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Renal cell carcinoma	20952505	CNVD

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:151172800-151201600	Weak transcription	GM12878-XiMat	blood
2	chr4:151173400-151201400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:151176400-151202800	Weak transcription	Psoas Muscle	Psoas
4	chr4:151178200-151204200	Weak transcription	Colonic Mucosa	Colon
5	chr4:151178400-151201400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr4:151178400-151201600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr4:151178400-151208600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr4:151180400-151201200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr4:151181400-151201800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr4:151181600-151202000	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr4:151181600-151202000	Weak transcription	Fetal Kidney	kidney
12	chr4:151181600-151203400	Weak transcription	Right Ventricle	heart
13	chr4:151181800-151201600	Weak transcription	Brain Angular Gyrus	brain
14	chr4:151181800-151209000	Weak transcription	Brain Cingulate Gyrus	brain
15	chr4:151182000-151201200	Weak transcription	Fetal Heart	heart
16	chr4:151182600-151208000	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr4:151184800-151209200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr4:151185000-151202000	Weak transcription	K562	blood
19	chr4:151186200-151200800	Weak transcription	NHLF	lung
20	chr4:151186200-151208000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr4:151186400-151204800	Weak transcription	Placenta	Placenta
22	chr4:151187600-151200400	Weak transcription	HSMM	muscle
23	chr4:151187600-151202000	Weak transcription	Left Ventricle	heart
24	chr4:151187600-151206000	Weak transcription	Dnd41	blood
25	chr4:151187800-151199400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr4:151187800-151200400	Weak transcription	NH-A	brain
27	chr4:151187800-151200400	Weak transcription	Osteobl	bone
28	chr4:151187800-151200600	Weak transcription	HSMMtube	muscle
29	chr4:151187800-151201400	Weak transcription	Brain Hippocampus Middle	brain
30	chr4:151187800-151202400	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr4:151188000-151200200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr4:151188000-151200200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr4:151188000-151201400	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr4:151188600-151201400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr4:151189800-151200600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr4:151190200-151204600	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr4:151190600-151201400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr4:151191000-151201400	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr4:151191400-151245200	Weak transcription	Small Intestine	intestine
40	chr4:151191600-151200800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr4:151192000-151200400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr4:151192000-151201400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr4:151192400-151201000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr4:151192400-151232800	Weak transcription	Brain Substantia Nigra	brain
45	chr4:151193400-151208400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr4:151193600-151203000	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr4:151193600-151210200	Weak transcription	HepG2	liver
48	chr4:151194400-151199400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr4:151195200-151201200	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr4:151195200-151205000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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