Variant report

Variant	nsv1029351
Chromosome Location	chr4:172809594-172893072
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:172808859..172811254-chr4:172813204..172815254,2	K562	blood:
2	chr4:172844152..172846953-chr4:172848968..172851507,2	K562	blood:
3	chr4:172790840..172792742-chr4:172835981..172838118,2	K562	blood:
4	chr4:172887366..172889659-chr4:172893531..172896465,2	K562	blood:
5	chr4:172853787..172856208-chr4:172863065..172865371,2	K562	blood:
6	chr4:172853787..172856208-chr4:172863065..172865371,2	K562	blood:
7	chr4:172808859..172811254-chr4:172813204..172815254,2	K562	blood:
8	chr4:172844152..172846953-chr4:172848968..172851507,2	K562	blood:

No data

Extended variants
information (count: 1367 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:1367 , 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	rs562629821	chr4:172816402-172816403	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs531530789	chr4:172816468-172816469	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs78187872	chr4:172816484-172816485	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs116353753	chr4:172816488-172816489	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs375845897	chr4:172816502-172816503	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs527508653	chr4:172816551-172816552	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs111668737	chr4:172816555-172816556	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs551086377	chr4:172816590-172816591	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs138813703	chr4:172816591-172816592	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs567758437	chr4:172816601-172816602	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs76498874	chr4:172816618-172816619	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs570990226	chr4:172816622-172816623	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370156343	chr4:172816640-172816641	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs149391005	chr4:172816643-172816644	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs117709941	chr4:172816667-172816668	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs570340575	chr4:172816705-172816706	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs143760981	chr4:172816706-172816707	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs7696529	chr4:172816709-172816710	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs190909631	chr4:172816721-172816722	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs541644612	chr4:172816726-172816727	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs544563273	chr4:172816729-172816730	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs180994025	chr4:172816731-172816732	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs567911509	chr4:172816732-172816733	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573719085	chr4:172816764-172816765	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs79628654	chr4:172816781-172816782	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs374295396	chr4:172816786-172816787	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs531224023	chr4:172816834-172816835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs544878237	chr4:172816837-172816838	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs564839313	chr4:172816848-172816849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs369593885	chr4:172816849-172816850	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs536956319	chr4:172816910-172816911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs553662577	chr4:172816927-172816928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113763416	chr4:172816937-172816938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs547611537	chr4:172816972-172816973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs556542096	chr4:172817005-172817006	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs78786550	chr4:172817012-172817013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs530238758	chr4:172817035-172817036	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs13435186	chr4:172817056-172817057	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs564302670	chr4:172817060-172817061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs75228423	chr4:172817069-172817070	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs77803205	chr4:172817070-172817071	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs10013814	chr4:172817071-172817072	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs539057709	chr4:172817160-172817161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs372681685	chr4:172817180-172817181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs190935453	chr4:172817181-172817182	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs144728929	chr4:172817211-172817212	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs368560472	chr4:172817214-172817215	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs113855021	chr4:172817215-172817216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs534894761	chr4:172817234-172817235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs371604292	chr4:172817246-172817247	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
Ovarian clear cell carcinoma	21343371	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
Urothelial carcinoma	21177765	CNVD
Prostate cancer	22341455	CNVD

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:172816400-172816800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:172816400-172817600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr4:172817000-172818000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr4:172817600-172818000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr4:172824000-172824200	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr4:172824000-172824200	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr4:172824200-172824600	Active TSS	Placenta	Placenta
8	chr4:172824200-172824800	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr4:172824200-172824800	Active TSS	HUES6 Cell Line	embryonic stem cell
10	chr4:172830600-172831000	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr4:172838600-172839400	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr4:172838800-172839600	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr4:172839000-172839200	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr4:172839000-172839400	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr4:172839200-172844400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr4:172839400-172845800	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr4:172840400-172840800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr4:172844400-172846400	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr4:172844600-172844800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr4:172845000-172846000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr4:172845600-172846400	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr4:172845600-172846600	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr4:172845800-172846400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr4:172845800-172846400	Enhancers	H9 Cell Line	embryonic stem cell
25	chr4:172845800-172846600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr4:172845800-172848000	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr4:172845800-172848400	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr4:172846000-172846200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr4:172846000-172846400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr4:172846000-172846800	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr4:172846000-172846800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr4:172846200-172846600	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr4:172846200-172846800	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr4:172846200-172850600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr4:172846400-172846600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr4:172846400-172847400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr4:172846400-172849600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr4:172846600-172847200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr4:172846600-172847600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr4:172846600-172847600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr4:172846800-172847200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr4:172846800-172847400	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr4:172847200-172848200	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr4:172847200-172849000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr4:172847400-172847600	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr4:172847400-172848200	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr4:172847600-172847800	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr4:172847600-172847800	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr4:172848200-172851400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr4:172850600-172851000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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