Variant report

Variant	nsv877582
Chromosome Location	chr3:144871811-144916414
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:144893866..144896730-chr3:144914828..144916651,2	MCF-7	breast:
2	chr3:144907743..144909618-chr3:144913661..144915223,2	K562	blood:
3	chr3:144907743..144909618-chr3:144913661..144915223,2	K562	blood:
4	chr3:144893866..144896730-chr3:144914828..144916651,2	MCF-7	breast:

Extended variants
information (count: 635 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:635 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535573514	chr3:144877006-144877007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs191707255	chr3:144877012-144877013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs572631204	chr3:144877019-144877020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs35804140	chr3:144877030-144877031	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs77723118	chr3:144877070-144877071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs546417604	chr3:144877076-144877077	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs150916826	chr3:144877085-144877086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs570672837	chr3:144877130-144877131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs538178271	chr3:144877135-144877136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs564811996	chr3:144877171-144877172	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs139409359	chr3:144877190-144877191	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs563494986	chr3:144877295-144877296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs574530131	chr3:144877327-144877328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs75172459	chr3:144877399-144877400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs553594435	chr3:144877440-144877441	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs76424380	chr3:144877483-144877484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs145452746	chr3:144877494-144877495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs565537008	chr3:144877523-144877524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs140216423	chr3:144877589-144877590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs532055079	chr3:144877612-144877613	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs74658045	chr3:144877614-144877615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs530048486	chr3:144877625-144877626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs562489911	chr3:144877668-144877669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs149315755	chr3:144877758-144877759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs560405339	chr3:144877790-144877791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs188070077	chr3:144877833-144877834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs552072956	chr3:144877921-144877922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs191862417	chr3:144877928-144877929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs376384673	chr3:144877932-144877933	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs538133251	chr3:144877963-144877964	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs550138492	chr3:144877988-144877989	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs572443414	chr3:144879006-144879007	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs376543440	chr3:144879040-144879041	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs9881378	chr3:144879045-144879046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs185361275	chr3:144879051-144879052	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs34447590	chr3:144879085-144879086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs531505063	chr3:144879173-144879174	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs9861746	chr3:144879220-144879221	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs561896029	chr3:144879232-144879233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs546280448	chr3:144879256-144879257	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs9861890	chr3:144879265-144879266	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs189813441	chr3:144879294-144879295	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs181389977	chr3:144879303-144879304	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs551037077	chr3:144879310-144879311	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs569428235	chr3:144879364-144879365	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs144765596	chr3:144879409-144879410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs370934464	chr3:144879422-144879423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs556318009	chr3:144879426-144879427	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs568685725	chr3:144879442-144879443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs575104968	chr3:144879449-144879450	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	21115979	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Autism	18923514	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Autism	21956041	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	16608533	CNVD
Schizophrenia	20967226	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:144877000-144878000	Enhancers	Fetal Heart	heart
2	chr3:144879000-144879600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:144887400-144888400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr3:144887600-144888200	Enhancers	Brain Inferior Temporal Lobe	brain
5	chr3:144887600-144888600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:144887600-144888600	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr3:144887600-144890000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr3:144887800-144888400	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr3:144887800-144888400	Enhancers	Brain Cingulate Gyrus	brain
10	chr3:144887800-144888400	Enhancers	Fetal Heart	heart
11	chr3:144888000-144888400	Enhancers	H1 Cell Line	embryonic stem cell
12	chr3:144888000-144888400	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr3:144888000-144888400	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr3:144888000-144888400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr3:144888000-144888400	Enhancers	Aorta	Aorta
16	chr3:144888000-144888400	Enhancers	Brain Angular Gyrus	brain
17	chr3:144898400-144900400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr3:144898600-144899400	Enhancers	Colon Smooth Muscle	Colon
19	chr3:144898600-144899400	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr3:144898600-144899600	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr3:144898600-144900200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr3:144898600-144900400	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr3:144898600-144900400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr3:144898600-144900600	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr3:144898800-144899400	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr3:144898800-144899400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr3:144898800-144899400	Enhancers	Fetal Brain Female	brain
28	chr3:144898800-144899600	Enhancers	H1 Cell Line	embryonic stem cell
29	chr3:144898800-144900400	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr3:144899000-144899200	Enhancers	H9 Cell Line	embryonic stem cell
31	chr3:144899000-144899200	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr3:144899000-144899200	Enhancers	Ovary	ovary
33	chr3:144899000-144899400	Enhancers	Right Atrium	heart
34	chr3:144899000-144900200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr3:144899000-144900200	Active TSS	Stomach Smooth Muscle	stomach
36	chr3:144899000-144900600	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr3:144899200-144900600	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr3:144899400-144899600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr3:144899400-144899600	Active TSS	Liver	Liver
40	chr3:144899400-144899600	Flanking Active TSS	Colon Smooth Muscle	Colon
41	chr3:144899400-144899600	Enhancers	NHDF-Ad	bronchial
42	chr3:144899400-144899800	Enhancers	Primary T cells from cord blood	blood
43	chr3:144899400-144899800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr3:144899400-144899800	Weak transcription	Fetal Brain Female	brain
45	chr3:144899400-144900200	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr3:144899400-144900200	Enhancers	Aorta	Aorta
47	chr3:144899400-144900200	Enhancers	Dnd41	blood
48	chr3:144899400-144900400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr3:144899400-144900600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr3:144899400-144900600	Active TSS	Duodenum Smooth Muscle	Duodenum

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