Variant report

Variant	esv3359202
Chromosome Location	chr3:24416098-24418046
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	chr3:24417452..24419751-chr3:24421760..24423722,3	K562	blood:
2	chr3:24408638..24410180-chr3:24416324..24419253,2	K562	blood:
3	chr3:24417175..24419613-chr3:24421203..24423602,2	K562	blood:
4	chr3:24412210..24416414-chr3:24416681..24419144,4	MCF-7	breast:
5	chr3:24416630..24419472-chr3:24433631..24435823,2	K562	blood:
6	chr3:24412210..24416414-chr3:24416681..24419144,4	MCF-7	breast:
7	chr3:24349650..24351636-chr3:24417726..24419434,2	MCF-7	breast:
8	chr3:24414427..24416637-chr3:24418251..24421032,2	MCF-7	breast:

No data

Extended variants
information (count: 75 )
Associated
traits (count: 71 )

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	rs548062084	chr3:24416124-24416125	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs546640387	chr3:24416424-24416425	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs373715870	chr3:24416451-24416452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs566344098	chr3:24416472-24416473	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs143578776	chr3:24416503-24416504	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs184562634	chr3:24416541-24416542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs568228199	chr3:24416560-24416561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs562199929	chr3:24416561-24416562	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs188259175	chr3:24416575-24416576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs191149056	chr3:24416611-24416612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs111506606	chr3:24416629-24416630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs17014597	chr3:24416660-24416661	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs576944011	chr3:24416677-24416678	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs76583844	chr3:24416685-24416686	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs552957537	chr3:24416695-24416696	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs574626750	chr3:24416698-24416699	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs541803791	chr3:24416705-24416706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs374588665	chr3:24416724-24416725	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs575382970	chr3:24416738-24416739	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs9868752	chr3:24416859-24416860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs530841345	chr3:24416868-24416869	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs545861551	chr3:24416869-24416870	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs71624327	chr3:24416884-24416885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs111315057	chr3:24416887-24416888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs145425144	chr3:24416894-24416895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs112106902	chr3:24416915-24416916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs112912799	chr3:24416943-24416944	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs140612542	chr3:24416981-24416982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs113451749	chr3:24417008-24417009	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs546580858	chr3:24417049-24417050	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs533443968	chr3:24417067-24417068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs546743409	chr3:24417080-24417081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs566977380	chr3:24417088-24417089	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs199705047	chr3:24417135-24417136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs188913515	chr3:24417174-24417175	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs530419715	chr3:24417195-24417196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs75322556	chr3:24417212-24417213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs115154668	chr3:24417238-24417239	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs181918008	chr3:24417270-24417271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs186181476	chr3:24417278-24417279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs555740867	chr3:24417279-24417280	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs181394355	chr3:24417283-24417284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs185259825	chr3:24417284-24417285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs371528949	chr3:24417285-24417286	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs60099609	chr3:24417303-24417304	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs151094877	chr3:24417314-24417315	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs141036321	chr3:24417348-24417349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs190018990	chr3:24417396-24417397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs17014600	chr3:24417464-24417465	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs557002688	chr3:24417508-24417509	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:71)

Disease	PMID	Source
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:24360400-24418000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr3:24394000-24431400	Weak transcription	Gastric	stomach
3	chr3:24407400-24418400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr3:24409200-24416400	Weak transcription	A549	lung
5	chr3:24412200-24417600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr3:24412200-24417800	Weak transcription	Left Ventricle	heart
7	chr3:24412400-24421000	Weak transcription	Right Atrium	heart
8	chr3:24412400-24428400	Weak transcription	NHDF-Ad	bronchial
9	chr3:24413400-24420200	Enhancers	Fetal Intestine Large	intestine
10	chr3:24414000-24418200	Enhancers	Fetal Intestine Small	intestine
11	chr3:24414200-24423000	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr3:24414400-24418200	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr3:24414600-24416600	Enhancers	Fetal Kidney	kidney
14	chr3:24414800-24416400	Enhancers	Rectal Mucosa Donor 29	rectum
15	chr3:24414800-24418000	Enhancers	Rectal Smooth Muscle	rectum
16	chr3:24415000-24417600	Weak transcription	Fetal Lung	lung
17	chr3:24415000-24417600	Weak transcription	Small Intestine	intestine
18	chr3:24415000-24418600	Weak transcription	Aorta	Aorta
19	chr3:24415200-24417400	Weak transcription	Stomach Mucosa	stomach
20	chr3:24415200-24417600	Weak transcription	Lung	lung
21	chr3:24415200-24419600	Enhancers	HepG2	liver
22	chr3:24415200-24421200	Weak transcription	HMEC	breast
23	chr3:24415400-24417400	Weak transcription	Stomach Smooth Muscle	stomach
24	chr3:24415400-24417600	Weak transcription	Psoas Muscle	Psoas
25	chr3:24415400-24417600	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr3:24415400-24418000	Weak transcription	Pancreas	Pancrea
27	chr3:24415400-24418800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr3:24415600-24416200	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr3:24415600-24417200	Weak transcription	K562	blood
30	chr3:24415800-24417600	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr3:24416000-24416800	Enhancers	Liver	Liver
32	chr3:24416000-24420200	Enhancers	Colon Smooth Muscle	Colon
33	chr3:24416200-24416600	Enhancers	HSMM	muscle
34	chr3:24416200-24416800	Enhancers	Skeletal Muscle Male	skeletal muscle
35	chr3:24416400-24417400	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr3:24416400-24419200	Enhancers	A549	lung
37	chr3:24416600-24421600	Weak transcription	Fetal Kidney	kidney
38	chr3:24416800-24417200	Weak transcription	Liver	Liver
39	chr3:24416800-24417600	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr3:24417200-24417400	Enhancers	Fetal Heart	heart
41	chr3:24417200-24417400	Enhancers	K562	blood
42	chr3:24417200-24420200	Enhancers	Liver	Liver
43	chr3:24417400-24417800	Flanking Active TSS	K562	blood
44	chr3:24417400-24418000	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr3:24417400-24418200	Enhancers	Rectal Mucosa Donor 29	rectum
46	chr3:24417400-24418200	Enhancers	Stomach Mucosa	stomach
47	chr3:24417400-24418200	Enhancers	Stomach Smooth Muscle	stomach
48	chr3:24417600-24417800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr3:24417600-24418000	Enhancers	Lung	lung
50	chr3:24417600-24418000	Enhancers	Right Ventricle	heart

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