Variant report

Variant	nsv527434
Chromosome Location	chr4:174134684-174136952
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:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:174134446..174136321-chr4:174137572..174139819,3	MCF-7	breast:
2	chr4:174119750..174122089-chr4:174134389..174136257,2	K562	blood:
3	chr4:174102924..174105374-chr4:174132748..174134859,2	K562	blood:
4	chr4:174134665..174137165-chr4:174138818..174141532,2	K562	blood:
5	chr4:174107501..174109531-chr4:174134790..174137729,2	K562	blood:
6	chr4:174133009..174135826-chr4:174157203..174158877,2	K562	blood:
7	chr4:174099303..174100811-chr4:174136883..174138440,2	K562	blood:

No data

Extended variants
information (count: 75 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7670064	chr4:174134684-174134685	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs577565591	chr4:174134687-174134688	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs546239334	chr4:174134696-174134697	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs12643021	chr4:174134741-174134742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs559746960	chr4:174134821-174134822	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs377005765	chr4:174134869-174134870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs528629800	chr4:174134879-174134880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs542285893	chr4:174134960-174134961	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs546349256	chr4:174134968-174134969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs560968374	chr4:174134972-174134973	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs529911876	chr4:174134985-174134986	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs190827893	chr4:174135135-174135136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs566706966	chr4:174135155-174135156	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs76488822	chr4:174135275-174135276	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs532241005	chr4:174135276-174135277	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs551790649	chr4:174135278-174135279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs565316968	chr4:174135287-174135288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs149768416	chr4:174135295-174135296	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs141775329	chr4:174135325-174135326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs554638452	chr4:174135346-174135347	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs11330286	chr4:174135440-174135441	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs568022874	chr4:174135456-174135457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs192454979	chr4:174135465-174135466	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs557241543	chr4:174135476-174135477	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs577625633	chr4:174135530-174135531	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs566859214	chr4:174135536-174135537	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs546501378	chr4:174135542-174135543	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs553430222	chr4:174135591-174135592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs370345038	chr4:174135608-174135609	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs112057937	chr4:174135625-174135626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs541819946	chr4:174135645-174135646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs562217057	chr4:174135740-174135741	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs184667585	chr4:174135780-174135781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs17059215	chr4:174135795-174135796	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs188960767	chr4:174135802-174135803	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs150793180	chr4:174135807-174135808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs552051607	chr4:174135812-174135813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs565376431	chr4:174135835-174135836	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs11330284	chr4:174135954-174135955	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs398051349	chr4:174135968-174135969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs62341142	chr4:174135970-174135971	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs181284712	chr4:174136092-174136093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs552285186	chr4:174136102-174136103	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs547827363	chr4:174136127-174136128	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs138107983	chr4:174136131-174136132	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs149349532	chr4:174136237-174136238	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs537815528	chr4:174136292-174136293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs536713324	chr4:174136324-174136325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs557621955	chr4:174136347-174136348	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs571862059	chr4:174136383-174136384	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Metanephric adenoma	20802469	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
High-grade prostatic intraepithelial neoplasia	16573809	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
Esophageal squamous carcinoma	17470683	CNVD
Neuroblastoma	16790693	CNVD
Schizophrenia	23813976	CNVD
Lung cancer	16773561	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	22127048	CNVD
Glioblastoma multiforme	22286061	CNVD
Neuroblastoma	21899760	CNVD
Gastric adenocarcinoma	19115996	CNVD
Breast cancer	22522925	CNVD
Prostate cancer	22341455	CNVD
Ovarian cancer	22355333	CNVD

Chromatin state (count:142 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:174104000-174157200	Weak transcription	Ovary	ovary
2	chr4:174112800-174140000	Weak transcription	Aorta	Aorta
3	chr4:174113800-174138000	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr4:174114200-174157800	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr4:174114600-174155000	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr4:174116800-174135200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr4:174123600-174174200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr4:174125600-174144800	Weak transcription	Primary B cells from cord blood	blood
9	chr4:174125800-174139200	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr4:174126000-174156400	Weak transcription	Brain Anterior Caudate	brain
11	chr4:174126400-174149800	Weak transcription	Esophagus	oesophagus
12	chr4:174126600-174135400	Weak transcription	Stomach Smooth Muscle	stomach
13	chr4:174126600-174135800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr4:174126600-174155200	Weak transcription	GM12878-XiMat	blood
15	chr4:174126600-174163400	Weak transcription	Primary B cells from peripheral blood	blood
16	chr4:174126800-174135600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr4:174126800-174139000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr4:174127000-174139600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr4:174127000-174148600	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr4:174127000-174163600	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr4:174127000-174163600	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr4:174127400-174135800	Weak transcription	Fetal Stomach	stomach
23	chr4:174127400-174138200	Weak transcription	Dnd41	blood
24	chr4:174127400-174149000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr4:174127600-174138200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr4:174128200-174138600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr4:174128200-174139000	Weak transcription	Primary T cells from cord blood	blood
28	chr4:174128200-174169200	Weak transcription	Duodenum Mucosa	Duodenum
29	chr4:174129000-174138400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr4:174130200-174139400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr4:174130800-174135800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr4:174130800-174138200	Weak transcription	Stomach Mucosa	stomach
33	chr4:174130800-174138800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr4:174131000-174136000	Weak transcription	Lung	lung
35	chr4:174131000-174136000	Weak transcription	Right Ventricle	heart
36	chr4:174131000-174138600	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr4:174131000-174138800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr4:174131000-174139000	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr4:174131200-174147800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr4:174131600-174135400	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr4:174131600-174136000	Weak transcription	Brain Hippocampus Middle	brain
42	chr4:174131800-174135000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr4:174131800-174135400	Weak transcription	Fetal Muscle Leg	muscle
44	chr4:174131800-174140200	Weak transcription	Thymus	Thymus
45	chr4:174131800-174156400	Weak transcription	Fetal Intestine Small	intestine
46	chr4:174131800-174168600	Weak transcription	Gastric	stomach
47	chr4:174132000-174136400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr4:174132000-174136600	Weak transcription	Fetal Muscle Trunk	muscle
49	chr4:174132400-174138400	Enhancers	K562	blood
50	chr4:174132600-174136400	Weak transcription	Fetal Thymus	thymus

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