Variant report

Variant	nsv879623
Chromosome Location	chr4:96123466-96168719
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:96086744..96087935-chr4:96125403..96126613,4	MCF-7	breast:
2	chr4:96124156..96126262-chr4:96134196..96136311,2	K562	blood:
3	chr4:96153204..96155731-chr4:96157374..96159484,2	K562	blood:
4	chr4:96165686..96167615-chr4:99847772..99850576,2	K562	blood:
5	chr4:96126045..96127650-chr4:96129190..96131527,2	K562	blood:
6	chr4:96159441..96161315-chr4:96163065..96165046,2	K562	blood:
7	chr4:96130668..96133159-chr4:96135795..96137736,2	K562	blood:
8	chr4:96153204..96155731-chr4:96157374..96159484,2	K562	blood:
9	chr4:96130668..96133159-chr4:96135795..96137736,2	K562	blood:
10	chr4:96159441..96161315-chr4:96163065..96165046,2	K562	blood:
11	chr4:96126045..96127650-chr4:96129190..96131527,2	K562	blood:
12	chr4:96152436..96154140-chr4:96173614..96175189,2	K562	blood:
13	chr4:96124156..96126262-chr4:96134196..96136311,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000263923	chromatin interactions
ENSG00000151247	chromatin interactions

Extended variants
information (count: 1654 )
Associated
traits (count: 88 )

Variant overlapped rSNPs/rCNVs (count:1654 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3775053	chr4:96123466-96123467	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs115731814	chr4:96123513-96123514	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs184802229	chr4:96123520-96123521	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs150810597	chr4:96123564-96123565	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs553935227	chr4:96123566-96123567	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs374642721	chr4:96123568-96123569	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs536855303	chr4:96123569-96123570	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs530610755	chr4:96123572-96123573	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs556549558	chr4:96123577-96123578	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs115506234	chr4:96123594-96123595	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs372750661	chr4:96123610-96123611	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs375651405	chr4:96123611-96123612	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs369704545	chr4:96123616-96123617	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs189304881	chr4:96123617-96123618	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs11943923	chr4:96123622-96123623	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs529805564	chr4:96123705-96123706	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs538794351	chr4:96123734-96123735	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs543624844	chr4:96123762-96123763	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs10025766	chr4:96123768-96123769	Strong transcription Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs139028332	chr4:96123788-96123789	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs111994800	chr4:96123801-96123802	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs565376411	chr4:96123851-96123852	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs374100147	chr4:96123870-96123871	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs528083828	chr4:96123936-96123937	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs367641612	chr4:96123942-96123943	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs117896462	chr4:96123953-96123954	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs141250673	chr4:96123977-96123978	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs3733212	chr4:96123981-96123982	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs61736724	chr4:96123982-96123983	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs556748306	chr4:96123987-96123988	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs374566244	chr4:96123994-96123995	ZNF genes & repeats Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs201608163	chr4:96124000-96124001	ZNF genes & repeats Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs368710597	chr4:96124014-96124015	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs187196396	chr4:96124016-96124017	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs528680277	chr4:96124017-96124018	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs558984414	chr4:96124054-96124055	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs149451558	chr4:96124081-96124082	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs372308726	chr4:96124101-96124102	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs376376291	chr4:96124159-96124160	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs369634287	chr4:96124165-96124166	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs371979641	chr4:96124166-96124167	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs377578715	chr4:96124193-96124194	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs560206241	chr4:96124271-96124272	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs369033814	chr4:96124272-96124273	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs547275105	chr4:96124315-96124316	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs574891538	chr4:96124339-96124340	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs543237459	chr4:96124348-96124349	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs568786778	chr4:96124356-96124357	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs76098109	chr4:96124372-96124373	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs147145943	chr4:96124376-96124377	Strong transcription Weak transcription Enhancers	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:440 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:96098000-96127000	Weak transcription	Right Atrium	heart
2	chr4:96100000-96143000	Weak transcription	Fetal Kidney	kidney
3	chr4:96110600-96133800	Weak transcription	Gastric	stomach
4	chr4:96110600-96134000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr4:96112600-96125600	Weak transcription	Ovary	ovary
6	chr4:96112600-96127200	Weak transcription	Fetal Intestine Small	intestine
7	chr4:96112800-96125400	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr4:96115400-96134000	Weak transcription	Aorta	Aorta
9	chr4:96115800-96132800	Weak transcription	Right Ventricle	heart
10	chr4:96116200-96123600	Weak transcription	Brain Substantia Nigra	brain
11	chr4:96116800-96124800	Weak transcription	Brain Angular Gyrus	brain
12	chr4:96118600-96125000	Strong transcription	Fetal Stomach	stomach
13	chr4:96118800-96126000	Strong transcription	Fetal Lung	lung
14	chr4:96119600-96128200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr4:96119800-96123600	Weak transcription	Osteobl	bone
16	chr4:96121400-96124000	Strong transcription	Brain Cingulate Gyrus	brain
17	chr4:96122000-96124200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr4:96122400-96125600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr4:96122600-96127600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr4:96122800-96124200	Strong transcription	Brain Inferior Temporal Lobe	brain
21	chr4:96123000-96124200	Strong transcription	Brain Anterior Caudate	brain
22	chr4:96123000-96125200	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr4:96123000-96125600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr4:96123000-96131400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr4:96123200-96123800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr4:96123200-96124200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr4:96123200-96124200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr4:96123200-96124400	Enhancers	Brain Germinal Matrix	brain
29	chr4:96123400-96124200	Strong transcription	Brain Hippocampus Middle	brain
30	chr4:96123600-96124200	Strong transcription	Brain Substantia Nigra	brain
31	chr4:96123600-96124400	Strong transcription	Osteobl	bone
32	chr4:96123800-96124000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr4:96123800-96124200	Enhancers	Lung	lung
34	chr4:96123800-96124200	Enhancers	Pancreas	Pancrea
35	chr4:96124000-96124200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr4:96124000-96125000	Weak transcription	Brain Cingulate Gyrus	brain
37	chr4:96124000-96125600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr4:96124200-96125000	Weak transcription	Brain Anterior Caudate	brain
39	chr4:96124200-96125000	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr4:96124200-96125400	Weak transcription	Brain Hippocampus Middle	brain
41	chr4:96124200-96125400	Weak transcription	Brain Substantia Nigra	brain
42	chr4:96124200-96125600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr4:96124200-96131000	Weak transcription	Lung	lung
44	chr4:96124200-96133800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr4:96124200-96135400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr4:96124200-96135400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr4:96124400-96125400	Weak transcription	Brain Germinal Matrix	brain
48	chr4:96124400-96132000	Weak transcription	Osteobl	bone
49	chr4:96124800-96126600	Enhancers	Brain Angular Gyrus	brain
50	chr4:96125000-96126400	Enhancers	Brain Anterior Caudate	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links