Variant report

Variant	nsv999196
Chromosome Location	chr3:144487765-144529406
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:143694539..143695086-chr3:144489593..144490285,2	MCF-7	breast:
2	chr3:143689459..143691462-chr3:144489230..144491259,2	MCF-7	breast:
3	chr3:143690596..143692811-chr3:144488722..144490239,2	MCF-7	breast:
4	chr3:143689984..143692553-chr3:144495205..144498104,2	MCF-7	breast:
5	chr3:144406468..144407248-chr3:144489335..144490305,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000181744	chromatin interactions

Extended variants
information (count: 501 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:501 , 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	rs574215756	chr3:144487778-144487779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs565971648	chr3:144487828-144487829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs141548443	chr3:144487837-144487838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs551576677	chr3:144487862-144487863	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs146174914	chr3:144487863-144487864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs182477682	chr3:144487866-144487867	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs115910562	chr3:144487887-144487888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs568565248	chr3:144487903-144487904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs535892736	chr3:144488034-144488035	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs115112461	chr3:144488055-144488056	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs16855941	chr3:144488056-144488057	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs559767134	chr3:144488074-144488075	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs187165278	chr3:144488092-144488093	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs148397284	chr3:144488101-144488102	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs75972146	chr3:144488123-144488124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs543605617	chr3:144488144-144488145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs561484417	chr3:144488180-144488181	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs543116789	chr3:144488203-144488204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs540624304	chr3:144488208-144488209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs559060662	chr3:144488209-144488210	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs533275504	chr3:144488220-144488221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs141701097	chr3:144488257-144488258	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs569913607	chr3:144488367-144488368	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs55861404	chr3:144488369-144488370	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs554341323	chr3:144488386-144488387	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs369803523	chr3:144488392-144488393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs563687286	chr3:144488398-144488399	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs77151656	chr3:144488426-144488427	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs189706226	chr3:144488455-144488456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs549401635	chr3:144488485-144488486	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs534771177	chr3:144488499-144488500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs553072137	chr3:144488519-144488520	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs565974691	chr3:144488520-144488521	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs62273794	chr3:144488631-144488632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs150534946	chr3:144488648-144488649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs557028877	chr3:144488678-144488679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs182869647	chr3:144488681-144488682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs374307188	chr3:144488705-144488706	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs537254961	chr3:144488764-144488765	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs555491489	chr3:144488806-144488807	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs188610363	chr3:144488817-144488818	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs540737558	chr3:144488899-144488900	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs559385531	chr3:144488904-144488905	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs577596069	chr3:144488958-144488959	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs545079239	chr3:144488972-144488973	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs56807652	chr3:144489016-144489017	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs565721995	chr3:144489019-144489020	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs374663194	chr3:144489020-144489021	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs59939948	chr3:144489022-144489023	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs563476561	chr3:144489036-144489037	Enhancers Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:144483200-144489200	Weak transcription	Psoas Muscle	Psoas
2	chr3:144483400-144487800	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr3:144483400-144489000	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr3:144483400-144489200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr3:144483400-144489200	Weak transcription	Brain Anterior Caudate	brain
6	chr3:144483400-144489400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr3:144483600-144489400	Weak transcription	Brain Substantia Nigra	brain
8	chr3:144483800-144488000	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr3:144484000-144489200	Weak transcription	Brain Hippocampus Middle	brain
10	chr3:144485600-144489200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr3:144487800-144492200	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr3:144488000-144491000	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr3:144488400-144489400	Enhancers	HUVEC	blood vessel
14	chr3:144489000-144489600	Enhancers	HSMM	muscle
15	chr3:144489000-144490400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr3:144489000-144491000	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr3:144489000-144491000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
18	chr3:144489200-144489400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr3:144489200-144489400	Enhancers	Psoas Muscle	Psoas
20	chr3:144489200-144489600	Enhancers	NHDF-Ad	bronchial
21	chr3:144489200-144491000	Enhancers	HSMMtube	muscle
22	chr3:144489200-144491400	Enhancers	Brain Angular Gyrus	brain
23	chr3:144489200-144491400	Enhancers	Brain Anterior Caudate	brain
24	chr3:144489200-144491600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr3:144489200-144491600	Enhancers	Brain Hippocampus Middle	brain
26	chr3:144489200-144492400	Enhancers	Brain Cingulate Gyrus	brain
27	chr3:144489400-144489800	Flanking Active TSS	HUVEC	blood vessel
28	chr3:144489400-144490000	Enhancers	Fetal Kidney	kidney
29	chr3:144489400-144490000	Weak transcription	Psoas Muscle	Psoas
30	chr3:144489400-144490400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr3:144489400-144491600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr3:144489400-144491600	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr3:144489400-144492200	Enhancers	Brain Substantia Nigra	brain
34	chr3:144489400-144492200	Enhancers	Fetal Heart	heart
35	chr3:144489600-144489800	Flanking Active TSS	NHDF-Ad	bronchial
36	chr3:144489800-144490000	Enhancers	NHDF-Ad	bronchial
37	chr3:144489800-144492400	Enhancers	HUVEC	blood vessel
38	chr3:144490000-144490200	Enhancers	Psoas Muscle	Psoas
39	chr3:144490000-144490200	Flanking Active TSS	NHDF-Ad	bronchial
40	chr3:144490000-144491000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr3:144490000-144491000	Weak transcription	Fetal Kidney	kidney
42	chr3:144490000-144491400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr3:144490000-144491600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr3:144490200-144492200	Enhancers	NHDF-Ad	bronchial
45	chr3:144490400-144491000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr3:144490400-144491400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr3:144490400-144491400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr3:144490400-144491400	Enhancers	Fetal Lung	lung
49	chr3:144490600-144491000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr3:144490600-144491200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links