Variant report

Variant	nsv537449
Chromosome Location	chr4:188058730-188095665
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:188066477..188068496-chr4:188071988..188074466,2	K562	blood:
2	chr4:188056141..188059135-chr4:188062494..188064650,2	K562	blood:
3	chr4:188077660..188079789-chr4:188085671..188087696,2	K562	blood:
4	chr4:188056141..188059135-chr4:188062494..188064650,2	K562	blood:
5	chr4:188077660..188079789-chr4:188085671..188087696,2	K562	blood:
6	chr4:188082742..188084382-chr4:188084801..188086705,2	K562	blood:
7	chr4:188066477..188068496-chr4:188071988..188074466,2	K562	blood:
8	chr4:187647654..187649416-chr4:188063013..188065311,2	MCF-7	breast:
9	chr4:187645367..187647070-chr4:188073656..188075512,2	K562	blood:
10	chr4:188083083..188085833-chr4:188087348..188090241,2	MCF-7	breast:
11	chr4:188082742..188084382-chr4:188084801..188086705,2	K562	blood:
12	chr4:188083083..188085833-chr4:188087348..188090241,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000083857	chromatin interactions

Extended variants
information (count: 1373 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:1373 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556281001	chr4:188058750-188058751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs563869224	chr4:188058763-188058764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs529543201	chr4:188058769-188058770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs542870396	chr4:188058775-188058776	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs73020315	chr4:188058783-188058784	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs528047826	chr4:188058831-188058832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs187871024	chr4:188058848-188058849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs199621034	chr4:188058878-188058879	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs138306427	chr4:188058884-188058885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs200160240	chr4:188058887-188058888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs550747663	chr4:188058907-188058908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs567422446	chr4:188058909-188058910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs149641940	chr4:188058916-188058917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs367801576	chr4:188058938-188058939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs76554121	chr4:188058945-188058946	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs553269609	chr4:188058996-188058997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs566101724	chr4:188058997-188058998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs189950764	chr4:188059043-188059044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs12650383	chr4:188059061-188059062	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs182765056	chr4:188059071-188059072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs6853472	chr4:188059074-188059075	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs557538076	chr4:188059095-188059096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs573859007	chr4:188059096-188059097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs374712389	chr4:188059119-188059120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561265511	chr4:188059169-188059170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs188073518	chr4:188059183-188059184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs147338636	chr4:188059200-188059201	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs192823306	chr4:188059218-188059219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs528570117	chr4:188059222-188059223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs7670962	chr4:188059232-188059233	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs564875857	chr4:188059272-188059273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs530632614	chr4:188059276-188059277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550363446	chr4:188059277-188059278	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs143249318	chr4:188059291-188059292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs529888033	chr4:188059299-188059300	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs546946032	chr4:188059310-188059311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs7671485	chr4:188059312-188059313	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs70938614	chr4:188059317-188059318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs70938615	chr4:188059326-188059327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563320322	chr4:188059330-188059331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs534752088	chr4:188059334-188059335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs113444942	chr4:188059345-188059346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs571507418	chr4:188059346-188059347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs142759775	chr4:188059350-188059351	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557005180	chr4:188059354-188059355	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs573922749	chr4:188059362-188059363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs536430102	chr4:188059366-188059367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs530758786	chr4:188059370-188059371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs573196393	chr4:188059380-188059381	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs183477416	chr4:188059381-188059382	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
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
Acute lymphoblastic leukemia	20067559	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
Breast cancer	16608533	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Olfactory neuroblastoma	18408657	CNVD
Breast cancer	21785460	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21633010	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20581869	CNVD
Hepatocellular carcinoma	16750200	CNVD
abnormal development	18461090	CNVD
Neuroblastoma	16790693	CNVD
Colorectal cancer	16774939	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Basal cell lymphoma	17053054	CNVD
Facioscapulohumeral muscular dystrophy	21829175	CNVD
Disorders of sex development	21048976	CNVD
Ovarian cancer	20844748	CNVD
Autism	18414403	CNVD
Urothelial carcinoma	21177765	CNVD
Cancer	20164920	CNVD
Cancer	20164919	CNVD
Breast cancer	20409316	CNVD
Rhabdomyosarcoma	16790082	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Developmental delay	22127048	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cervical cancer	21063398	CNVD
Oral cancer	21386901	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:188052000-188078600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr4:188059800-188061400	Enhancers	Rectal Mucosa Donor 31	rectum
3	chr4:188060000-188060800	Enhancers	Fetal Intestine Large	intestine
4	chr4:188060200-188060600	Enhancers	Duodenum Mucosa	Duodenum
5	chr4:188060200-188060800	Enhancers	Fetal Intestine Small	intestine
6	chr4:188061600-188062400	Enhancers	Fetal Lung	lung
7	chr4:188061800-188062800	Enhancers	NH-A	brain
8	chr4:188062000-188062400	Enhancers	Muscle Satellite Cultured Cells	--
9	chr4:188062200-188062600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr4:188062200-188067200	Weak transcription	Pancreas	Pancrea
11	chr4:188063200-188063600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr4:188063200-188063600	Enhancers	Placenta	Placenta
13	chr4:188066600-188067200	Enhancers	Gastric	stomach
14	chr4:188067800-188068400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr4:188068400-188068600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr4:188068400-188068600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr4:188068600-188071400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr4:188069800-188071000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr4:188069800-188071000	Enhancers	NHEK	skin
20	chr4:188070400-188071000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr4:188070800-188071000	Enhancers	Pancreatic Islets	Pancreatic Islet
22	chr4:188071200-188072800	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr4:188071400-188071600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr4:188071600-188071800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr4:188072800-188074200	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr4:188078600-188079400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr4:188078800-188079200	Active TSS	K562	blood
28	chr4:188079200-188079800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr4:188079600-188080000	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr4:188080000-188081000	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr4:188081000-188081200	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr4:188085800-188086000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr4:188085800-188086200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr4:188087400-188087800	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr4:188087800-188088200	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr4:188088200-188088800	Enhancers	Adipose Nuclei	Adipose
37	chr4:188088200-188089200	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr4:188088600-188089000	Enhancers	Rectal Mucosa Donor 29	rectum
39	chr4:188088600-188089000	Enhancers	Stomach Mucosa	stomach
40	chr4:188088600-188089200	Enhancers	Fetal Lung	lung
41	chr4:188088600-188089200	Enhancers	Placenta	Placenta
42	chr4:188088800-188092800	Weak transcription	Adipose Nuclei	Adipose
43	chr4:188089000-188089200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr4:188089000-188089200	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr4:188089000-188093200	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr4:188089200-188090800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr4:188089200-188092800	Weak transcription	Fetal Lung	lung
48	chr4:188089200-188093000	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr4:188089200-188093000	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr4:188090800-188091600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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