Variant report

Variant	nsv876629
Chromosome Location	chr3:24813960-24875084
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:14)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:24847659..24849436-chr3:24851725..24853235,2	K562	blood:
2	chr3:24814934..24815742-chr3:25136008..25136648,2	MCF-7	breast:
3	chr3:24843637..24846114-chr3:24850759..24853172,2	K562	blood:
4	chr3:24870259..24872185-chr3:24874165..24877170,4	MCF-7	breast:
5	chr3:24814926..24815573-chr3:25074600..25075173,3	MCF-7	breast:
6	chr3:24858439..24860739-chr3:24863902..24866552,2	K562	blood:
7	chr3:24870259..24872185-chr3:24874165..24877170,4	MCF-7	breast:
8	chr3:24847659..24849436-chr3:24851725..24853235,2	K562	blood:
9	chr3:24815127..24815890-chr3:25004964..25005522,2	MCF-7	breast:
10	chr3:24858439..24860739-chr3:24863902..24866552,2	K562	blood:
11	chr3:24815278..24815959-chr3:25635331..25636072,2	MCF-7	breast:
12	chr3:24859239..24862090-chr3:24863979..24866552,3	K562	blood:
13	chr3:24843637..24846114-chr3:24850759..24853172,2	K562	blood:
14	chr3:24859239..24862090-chr3:24863979..24866552,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RARB-1	chr3:24874580-24874713	ENSG00000237838

No data

Extended variants
information (count: 522 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:522 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577933289	chr3:24815466-24815467	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs142504926	chr3:24815490-24815491	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs78079691	chr3:24815500-24815501	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs527384012	chr3:24815510-24815511	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs535741757	chr3:24815512-24815513	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs542652228	chr3:24815538-24815539	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs574305324	chr3:24815543-24815544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs560523618	chr3:24815568-24815569	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs555231631	chr3:24815579-24815580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs117871790	chr3:24815589-24815590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs28688186	chr3:24815627-24815628	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs111668276	chr3:24815637-24815638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs188798878	chr3:24815643-24815644	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs376080223	chr3:24815662-24815663	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs531237937	chr3:24815681-24815682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs551676548	chr3:24815689-24815690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs146910346	chr3:24815777-24815778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs75038926	chr3:24815780-24815781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs7634361	chr3:24820247-24820248	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs546780543	chr3:24820268-24820269	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs190859362	chr3:24820269-24820270	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs182743978	chr3:24820273-24820274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs572970378	chr3:24820286-24820287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs148816384	chr3:24820287-24820288	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs145373641	chr3:24820288-24820289	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs137927028	chr3:24820304-24820305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs141050985	chr3:24820313-24820314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs374851079	chr3:24820317-24820318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs144771748	chr3:24820349-24820350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs368062695	chr3:24820384-24820385	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs557846411	chr3:24820399-24820400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs377348120	chr3:24823405-24823406	Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs546942178	chr3:24823422-24823423	Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs186339259	chr3:24823460-24823461	Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs188790508	chr3:24823476-24823477	Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs73820076	chr3:24823547-24823548	Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs567357938	chr3:24823565-24823566	Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs181742249	chr3:24823569-24823570	Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs547293224	chr3:24823590-24823591	Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs186553785	chr3:24823599-24823600	Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs191335741	chr3:24823603-24823604	Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs182761354	chr3:24823627-24823628	Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs143876370	chr3:24823631-24823632	Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs185416567	chr3:24823661-24823662	Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs551954492	chr3:24823672-24823673	Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs9870789	chr3:24823674-24823675	Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs199574218	chr3:24823675-24823676	Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs570446330	chr3:24823695-24823696	Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs534548476	chr3:24823696-24823697	Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs113606770	chr3:24823711-24823712	Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:342 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:24815400-24815800	Enhancers	Fetal Kidney	kidney
2	chr3:24820200-24820400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:24823400-24824000	Active TSS	Brain Angular Gyrus	brain
4	chr3:24825400-24825800	Enhancers	Aorta	Aorta
5	chr3:24831400-24832200	Enhancers	Fetal Kidney	kidney
6	chr3:24834600-24835200	Weak transcription	Psoas Muscle	Psoas
7	chr3:24835400-24835600	Enhancers	Psoas Muscle	Psoas
8	chr3:24835400-24835800	Enhancers	Fetal Muscle Leg	muscle
9	chr3:24840200-24840400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr3:24847400-24849400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr3:24849000-24850400	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr3:24849200-24850200	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr3:24849200-24850600	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr3:24849200-24850600	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr3:24849400-24849600	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr3:24849400-24850200	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr3:24849400-24850600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr3:24850000-24850800	Enhancers	H1 Cell Line	embryonic stem cell
19	chr3:24852000-24853000	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr3:24852200-24852400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr3:24852200-24852600	Active TSS	Brain Anterior Caudate	brain
22	chr3:24852200-24852600	Enhancers	Brain Hippocampus Middle	brain
23	chr3:24852200-24852600	Active TSS	Brain Substantia Nigra	brain
24	chr3:24852200-24852600	Enhancers	Esophagus	oesophagus
25	chr3:24852200-24852600	Active TSS	Stomach Mucosa	stomach
26	chr3:24852400-24852600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr3:24852400-24852800	Enhancers	Gastric	stomach
28	chr3:24852400-24853000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr3:24852600-24852800	Enhancers	Brain Anterior Caudate	brain
30	chr3:24852600-24852800	Enhancers	Stomach Mucosa	stomach
31	chr3:24852600-24853000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr3:24853000-24853600	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr3:24853600-24853800	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr3:24866600-24866800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr3:24867400-24867600	Enhancers	Pancreatic Islets	Pancreatic Islet
36	chr3:24869600-24869800	Bivalent Enhancer	Fetal Lung	lung
37	chr3:24869800-24870200	Enhancers	Colon Smooth Muscle	Colon
38	chr3:24869800-24870400	Enhancers	Fetal Lung	lung
39	chr3:24869800-24870400	Bivalent Enhancer	Fetal Muscle Leg	muscle
40	chr3:24870000-24870200	Enhancers	Brain Hippocampus Middle	brain
41	chr3:24870000-24870200	Bivalent/Poised TSS	Fetal Brain Male	brain
42	chr3:24870000-24870200	Enhancers	Stomach Smooth Muscle	stomach
43	chr3:24870000-24870400	Bivalent Enhancer	Fetal Stomach	stomach
44	chr3:24870200-24870400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr3:24870200-24870400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr3:24870200-24870400	Bivalent Enhancer	Brain Germinal Matrix	brain
47	chr3:24870200-24870400	Enhancers	Brain Inferior Temporal Lobe	brain
48	chr3:24870200-24870400	Enhancers	Brain Substantia Nigra	brain
49	chr3:24870200-24870400	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
50	chr3:24870200-24870400	Bivalent Enhancer	Esophagus	oesophagus

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