Variant report

Variant	nsv516959
Chromosome Location	chr4:124342509-124344717
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	chr4:124338250..124340040-chr4:124341621..124343166,2	K562	blood:
2	chr4:124342626..124344275-chr4:124363247..124365507,2	K562	blood:
3	chr4:124319636..124321563-chr4:124343114..124346032,2	K562	blood:
4	chr4:124340163..124342380-chr4:124343948..124346028,2	K562	blood:
5	chr4:124340419..124342149-chr4:124342290..124345121,2	MCF-7	breast:
6	chr4:124343091..124345315-chr4:124349743..124351770,2	K562	blood:
7	chr4:124337335..124339594-chr4:124343242..124345116,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000164056	chromatin interactions

Extended variants
information (count: 71 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:71 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs921569	chr4:124342509-124342510	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs529871941	chr4:124342512-124342513	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs550014437	chr4:124342530-124342531	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs180775981	chr4:124342547-124342548	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs4600929	chr4:124342622-124342623	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs112065366	chr4:124342689-124342690	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs1993192	chr4:124342698-124342699	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs4607226	chr4:124342712-124342713	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs565660707	chr4:124342739-124342740	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs534326490	chr4:124342768-124342769	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs185175789	chr4:124342784-124342785	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs62323391	chr4:124342802-124342803	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs574268883	chr4:124342806-124342807	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs150272536	chr4:124342905-124342906	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs145175973	chr4:124342906-124342907	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs28477361	chr4:124342943-124342944	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs192277767	chr4:124342963-124342964	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs142282455	chr4:124342970-124342971	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs572361760	chr4:124342976-124342977	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs374610947	chr4:124342993-124342994	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs151000108	chr4:124343039-124343040	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
22	rs561203398	chr4:124343083-124343084	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	n/a	n/a	Overlapped CNVs	n/a
23	rs10857095	chr4:124343118-124343119	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs550128341	chr4:124343152-124343153	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs563458531	chr4:124343180-124343181	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs142312953	chr4:124343211-124343212	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs576754579	chr4:124343254-124343255	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs182296818	chr4:124343298-124343299	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs187425438	chr4:124343326-124343327	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs191389357	chr4:124343337-124343338	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs77325462	chr4:124343340-124343341	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs547898149	chr4:124343343-124343344	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs373886070	chr4:124343357-124343358	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs552568792	chr4:124343415-124343416	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs114680840	chr4:124343432-124343433	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs78819418	chr4:124343531-124343532	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs145927658	chr4:124343532-124343533	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs556477046	chr4:124343543-124343544	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs138861395	chr4:124343565-124343566	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs538852726	chr4:124343586-124343587	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs141205574	chr4:124343650-124343651	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs572795008	chr4:124343668-124343669	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs572465258	chr4:124343684-124343685	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs541388862	chr4:124343698-124343699	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs542129250	chr4:124343754-124343755	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs200150947	chr4:124343763-124343764	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs561105927	chr4:124343777-124343778	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs574922265	chr4:124343797-124343798	Weak transcription Enhancers Active TSS Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs538710765	chr4:124343879-124343880	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs531061164	chr4:124343909-124343910	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
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
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
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
Colorectal cancer	20459617	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
Colorectal cancer	16272173	CNVD
Testicular germ cell tumor	18059402	CNVD
Ovarian cancer	22174824	CNVD
Neuroblastoma	21899760	CNVD
Renal cell carcinoma	18194544	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
small cell lung cancer	20016488	CNVD
Olfactory neuroblastoma	18408657	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Developmental delay	21147756	CNVD
Renal cell carcinoma	18765545	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myelofibrosis	22110671	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:124327000-124342800	Weak transcription	Right Atrium	heart
2	chr4:124332800-124343200	Enhancers	Primary hematopoietic stem cells	blood
3	chr4:124333800-124342600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr4:124337800-124343000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr4:124339000-124343800	Enhancers	Fetal Intestine Large	intestine
6	chr4:124339200-124343800	Enhancers	Fetal Intestine Small	intestine
7	chr4:124339200-124349200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr4:124340000-124344800	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr4:124340200-124342600	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr4:124340200-124342600	Weak transcription	NHLF	lung
11	chr4:124340200-124342800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr4:124340200-124342800	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr4:124340200-124342800	Weak transcription	Stomach Mucosa	stomach
14	chr4:124340400-124342600	Weak transcription	HUVEC	blood vessel
15	chr4:124340400-124343200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr4:124340400-124343600	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr4:124340600-124342600	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr4:124340600-124342800	Weak transcription	Primary B cells from cord blood	blood
19	chr4:124340600-124343000	Weak transcription	GM12878-XiMat	blood
20	chr4:124340600-124343600	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr4:124340600-124348200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr4:124340800-124342600	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr4:124340800-124343000	Enhancers	Fetal Thymus	thymus
24	chr4:124340800-124343400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
25	chr4:124341600-124342600	Enhancers	Duodenum Mucosa	Duodenum
26	chr4:124341600-124344400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr4:124341800-124342800	Weak transcription	Primary B cells from peripheral blood	blood
28	chr4:124341800-124344400	Weak transcription	Small Intestine	intestine
29	chr4:124342200-124343000	Enhancers	Primary T cells from cord blood	blood
30	chr4:124342400-124342600	Enhancers	Pancreatic Islets	Pancreatic Islet
31	chr4:124342400-124342800	Enhancers	Muscle Satellite Cultured Cells	--
32	chr4:124342400-124343000	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr4:124342400-124343000	Enhancers	Fetal Lung	lung
34	chr4:124342400-124343200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr4:124342400-124343200	Enhancers	Hela-S3	cervix
36	chr4:124342400-124343200	Enhancers	Osteobl	bone
37	chr4:124342400-124343400	Enhancers	HSMM	muscle
38	chr4:124342400-124343600	Flanking Active TSS	K562	blood
39	chr4:124342400-124343800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr4:124342600-124343000	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr4:124342600-124343000	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr4:124342600-124343200	Enhancers	NHLF	lung
43	chr4:124342600-124343400	Flanking Active TSS	Duodenum Mucosa	Duodenum
44	chr4:124342600-124343600	Enhancers	HUVEC	blood vessel
45	chr4:124342600-124343800	Enhancers	Primary monocytes fromperipheralblood	blood
46	chr4:124342600-124343800	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr4:124342600-124344000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr4:124342800-124343000	Enhancers	Primary B cells from peripheral blood	blood
49	chr4:124342800-124343000	Enhancers	Rectal Mucosa Donor 29	rectum
50	chr4:124342800-124343000	Enhancers	Stomach Mucosa	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links