Variant report

Variant	nsv879624
Chromosome Location	chr4:96147860-96183532
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:96169064..96170842-chr4:96173407..96175088,2	K562	blood:
2	chr4:96165686..96167615-chr4:99847772..99850576,2	K562	blood:
3	chr4:96152436..96154140-chr4:96173614..96175189,2	K562	blood:
4	chr4:96170637..96175521-chr4:96175696..96180371,8	K562	blood:
5	chr4:96153204..96155731-chr4:96157374..96159484,2	K562	blood:
6	chr4:96152436..96154140-chr4:96173614..96175189,2	K562	blood:
7	chr4:96159441..96161315-chr4:96163065..96165046,2	K562	blood:
8	chr4:96170637..96175521-chr4:96175696..96180371,8	K562	blood:
9	chr4:96153204..96155731-chr4:96157374..96159484,2	K562	blood:
10	chr4:96159441..96161315-chr4:96163065..96165046,2	K562	blood:
11	chr4:96169064..96170842-chr4:96173407..96175088,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000263923	chromatin interactions
ENSG00000151247	chromatin interactions

Extended variants
information (count: 1303 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:1303 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6850673	chr4:96147860-96147861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs115266861	chr4:96147891-96147892	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs573243457	chr4:96147893-96147894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs535455838	chr4:96147911-96147912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs556093169	chr4:96147974-96147975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs150543823	chr4:96147975-96147976	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs376978739	chr4:96148004-96148005	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs184160466	chr4:96148039-96148040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs563906372	chr4:96148049-96148050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs564445339	chr4:96148078-96148079	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs17023289	chr4:96148151-96148152	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs371368319	chr4:96148165-96148166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs540466359	chr4:96148169-96148170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs190712506	chr4:96148188-96148189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs531054973	chr4:96148190-96148191	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs529249736	chr4:96148208-96148209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs541669083	chr4:96148289-96148290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs139507910	chr4:96148291-96148292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs549008531	chr4:96148296-96148297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs56760859	chr4:96148305-96148306	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs562460955	chr4:96148318-96148319	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs531220350	chr4:96148319-96148320	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs144115788	chr4:96148382-96148383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs201374605	chr4:96148475-96148476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372274593	chr4:96148476-96148477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs147241746	chr4:96148501-96148502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs139069750	chr4:96148504-96148505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369166407	chr4:96148553-96148554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs143109369	chr4:96148587-96148588	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs528818387	chr4:96148593-96148594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs535710584	chr4:96148656-96148657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7674527	chr4:96148670-96148671	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs184642268	chr4:96148683-96148684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs537881375	chr4:96148684-96148685	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs189089819	chr4:96148800-96148801	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7674572	chr4:96148828-96148829	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs540422536	chr4:96148879-96148880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs553960805	chr4:96148933-96148934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573886929	chr4:96149015-96149016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs181547151	chr4:96149037-96149038	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs535896205	chr4:96149106-96149107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs562670788	chr4:96149230-96149231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs12513212	chr4:96149346-96149347	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs114653784	chr4:96149398-96149399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186565379	chr4:96149408-96149409	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs527339399	chr4:96149426-96149427	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs549514213	chr4:96149431-96149432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs547100266	chr4:96149459-96149460	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs566691074	chr4:96149473-96149474	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs529486319	chr4:96149537-96149538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:88)

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
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
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Autism	18414403	CNVD
primary effusion lymphomas	17116491	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Cancer	19907438	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:252 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:96134600-96176800	Weak transcription	Fetal Stomach	stomach
2	chr4:96135600-96153600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr4:96140600-96152600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr4:96140600-96163400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr4:96141400-96153800	Weak transcription	Fetal Lung	lung
6	chr4:96141600-96163200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr4:96142600-96157800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr4:96143000-96153600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr4:96143200-96153000	Weak transcription	Fetal Kidney	kidney
10	chr4:96147000-96148000	Enhancers	Brain Angular Gyrus	brain
11	chr4:96147000-96148000	Enhancers	Brain Hippocampus Middle	brain
12	chr4:96147000-96148200	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr4:96147000-96148200	Enhancers	Brain Substantia Nigra	brain
14	chr4:96147200-96148000	Enhancers	Brain Cingulate Gyrus	brain
15	chr4:96147600-96148000	Enhancers	Brain Anterior Caudate	brain
16	chr4:96147600-96151800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr4:96147800-96148200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr4:96147800-96148400	Enhancers	Ovary	ovary
19	chr4:96147800-96163600	Weak transcription	Aorta	Aorta
20	chr4:96148000-96151800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr4:96148000-96152200	Weak transcription	Brain Angular Gyrus	brain
22	chr4:96148000-96152200	Weak transcription	Brain Hippocampus Middle	brain
23	chr4:96148000-96152800	Weak transcription	Brain Anterior Caudate	brain
24	chr4:96148200-96151800	Weak transcription	Brain Substantia Nigra	brain
25	chr4:96148200-96152200	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr4:96148200-96153600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr4:96150000-96150200	Enhancers	Pancreatic Islets	Pancreatic Islet
28	chr4:96150200-96154000	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr4:96151800-96153400	Enhancers	Brain Substantia Nigra	brain
30	chr4:96151800-96154200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr4:96151800-96154200	Enhancers	Brain Cingulate Gyrus	brain
32	chr4:96152200-96152400	Enhancers	Brain Angular Gyrus	brain
33	chr4:96152200-96153400	Enhancers	Brain Hippocampus Middle	brain
34	chr4:96152200-96153600	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr4:96152400-96153000	Weak transcription	Brain Angular Gyrus	brain
36	chr4:96152600-96153200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr4:96152600-96154400	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr4:96152600-96154400	Enhancers	K562	blood
39	chr4:96152800-96153600	Enhancers	Brain Anterior Caudate	brain
40	chr4:96153000-96153200	Enhancers	Fetal Kidney	kidney
41	chr4:96153000-96153600	Enhancers	Brain Angular Gyrus	brain
42	chr4:96153000-96153800	Enhancers	Stomach Mucosa	stomach
43	chr4:96153000-96154600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr4:96153000-96154600	Enhancers	Dnd41	blood
45	chr4:96153000-96155000	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr4:96153200-96189600	Weak transcription	Fetal Kidney	kidney
47	chr4:96153400-96153600	Weak transcription	Brain Hippocampus Middle	brain
48	chr4:96153400-96153600	Weak transcription	Brain Substantia Nigra	brain
49	chr4:96153600-96153800	Flanking Active TSS	Brain Angular Gyrus	brain
50	chr4:96153600-96153800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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