Variant report

Variant	nsv880245
Chromosome Location	chr4:149132756-149183374
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:149223363..149224353-chr4:149139738..149140758,5	MCF-7	breast:
2	chr4:149172838..149174684-chr4:149174942..149176809,2	MCF-7	breast:
3	chr4:149172838..149174684-chr4:149174942..149176809,2	MCF-7	breast:
4	chr13:30016415..30017304-chr4:149180660..149181226,2	MCF-7	breast:
5	chr1:149223308..149225095-chr4:149140238..149141758,4	MCF-7	breast:
6	chr1:149223081..149224117-chr4:149139738..149140758,12	MCF-7	breast:

Variant related genes	Relation type
ENSG00000206737	chromatin interactions

Extended variants
information (count: 1985 )
Associated
traits (count: 71 )

Variant overlapped rSNPs/rCNVs (count:1985 , 50 per page) page: 1 2 3 4 5 6 7 ... 40

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6535594	chr4:149132756-149132757	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs72653873	chr4:149132773-149132774	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs373698956	chr4:149132790-149132791	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs182880281	chr4:149132797-149132798	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs531459724	chr4:149132837-149132838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs61758895	chr4:149132850-149132851	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs61758896	chr4:149132865-149132866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs549769420	chr4:149132879-149132880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs150073758	chr4:149132893-149132894	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs143643146	chr4:149132894-149132895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs11326129	chr4:149132895-149132896	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs567716893	chr4:149132901-149132902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs367846386	chr4:149132918-149132919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs528912029	chr4:149132935-149132936	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs72653874	chr4:149133006-149133007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs61758897	chr4:149133025-149133026	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs556777469	chr4:149133026-149133027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs61758898	chr4:149133111-149133112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs547773327	chr4:149133114-149133115	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs149786940	chr4:149133154-149133155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs61758899	chr4:149133157-149133158	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs61758900	chr4:149133183-149133184	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs572015871	chr4:149133272-149133273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs540577062	chr4:149133292-149133293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs577979945	chr4:149133314-149133315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs554292279	chr4:149133327-149133328	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs185941166	chr4:149133343-149133344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs190353988	chr4:149133432-149133433	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs563476271	chr4:149133462-149133463	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs576936507	chr4:149133474-149133475	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs546097851	chr4:149133490-149133491	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs145717126	chr4:149133514-149133515	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs115663732	chr4:149133581-149133582	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs547801921	chr4:149133601-149133602	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs551580035	chr4:149133607-149133608	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs530193513	chr4:149133662-149133663	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs549976896	chr4:149133719-149133720	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs570246279	chr4:149133724-149133725	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs538815713	chr4:149133738-149133739	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs115969219	chr4:149133755-149133756	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs566238715	chr4:149133756-149133757	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs534358535	chr4:149133800-149133801	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs554129033	chr4:149133802-149133803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs574220505	chr4:149133814-149133815	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs536771858	chr4:149133816-149133817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs556749373	chr4:149133833-149133834	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs35496556	chr4:149133859-149133860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs576979472	chr4:149133864-149133865	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs545634967	chr4:149133876-149133877	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs183274383	chr4:149133882-149133883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

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
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	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
T-cell prolymphocytic leukemia	19278963	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
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	21364760	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Epilepsy	22083797	CNVD

Chromatin state (count:601 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:149112400-149137400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr4:149115800-149137400	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr4:149117200-149138000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr4:149123600-149150200	Weak transcription	Right Ventricle	heart
5	chr4:149124000-149133200	Weak transcription	Left Ventricle	heart
6	chr4:149124000-149133400	Weak transcription	Pancreas	Pancrea
7	chr4:149124000-149136400	Weak transcription	Brain Angular Gyrus	brain
8	chr4:149125000-149132800	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr4:149125000-149133400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr4:149125000-149135600	Weak transcription	Ovary	ovary
11	chr4:149125200-149132800	Weak transcription	Aorta	Aorta
12	chr4:149125200-149136000	Weak transcription	Psoas Muscle	Psoas
13	chr4:149126000-149135600	Weak transcription	Brain Substantia Nigra	brain
14	chr4:149126000-149136600	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr4:149126200-149135400	Weak transcription	Brain Cingulate Gyrus	brain
16	chr4:149127000-149135400	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr4:149129600-149133400	Weak transcription	Lung	lung
18	chr4:149130400-149133800	Enhancers	Stomach Smooth Muscle	stomach
19	chr4:149130400-149138800	Enhancers	Fetal Heart	heart
20	chr4:149131400-149133400	Weak transcription	Right Atrium	heart
21	chr4:149131600-149133600	Enhancers	Rectal Smooth Muscle	rectum
22	chr4:149131800-149132800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr4:149131800-149135800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr4:149132000-149133200	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr4:149132000-149133800	Enhancers	Colon Smooth Muscle	Colon
26	chr4:149132000-149134200	Enhancers	HSMMtube	muscle
27	chr4:149132200-149133000	Weak transcription	Fetal Kidney	kidney
28	chr4:149132200-149133600	Weak transcription	Fetal Muscle Leg	muscle
29	chr4:149132200-149133800	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr4:149132600-149135600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr4:149132800-149133200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr4:149132800-149133400	Enhancers	Aorta	Aorta
33	chr4:149132800-149133400	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr4:149133000-149133200	Enhancers	HSMM	muscle
35	chr4:149133000-149134400	Enhancers	Fetal Kidney	kidney
36	chr4:149133200-149133600	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr4:149133200-149133800	Enhancers	Left Ventricle	heart
38	chr4:149133200-149134200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr4:149133400-149133600	Enhancers	Fetal Stomach	stomach
40	chr4:149133400-149133600	Enhancers	Stomach Mucosa	stomach
41	chr4:149133400-149133800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr4:149133400-149133800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr4:149133400-149133800	Enhancers	Lung	lung
44	chr4:149133400-149133800	Enhancers	Pancreas	Pancrea
45	chr4:149133400-149133800	Enhancers	Right Atrium	heart
46	chr4:149133400-149135600	Weak transcription	HSMM	muscle
47	chr4:149133400-149136000	Weak transcription	Aorta	Aorta
48	chr4:149133400-149136000	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr4:149133600-149133800	Enhancers	Fetal Muscle Leg	muscle
50	chr4:149133600-149133800	Enhancers	Skeletal Muscle Male	skeletal muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links