Variant report

Variant	nsv523180
Chromosome Location	chr2:151019241-151022044
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:151021749..151023909-chr2:151069571..151071445,2	MCF-7	breast:
2	chr2:151018984..151021461-chr2:151021617..151024029,2	K562	blood:
3	chr2:151018212..151020426-chr2:151020566..151023225,3	MCF-7	breast:
4	chr2:151020603..151025476-chr2:151341674..151344465,7	MCF-7	breast:
5	chr2:151015440..151017637-chr2:151020964..151024352,3	MCF-7	breast:
6	chr2:151018212..151020426-chr2:151020566..151023225,3	MCF-7	breast:
7	chr2:151015971..151018361-chr2:151021107..151023162,2	K562	blood:
8	chr2:151019127..151021972-chr2:151024346..151026624,2	K562	blood:
9	chr2:151018984..151021461-chr2:151021617..151024029,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000115963	chromatin interactions

Extended variants
information (count: 104 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:104 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4667379	chr2:151019241-151019242	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs570978755	chr2:151019242-151019243	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs4667378	chr2:151019257-151019258	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs550218474	chr2:151019288-151019289	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs116317346	chr2:151019302-151019303	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs4667377	chr2:151019336-151019337	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs189734816	chr2:151019450-151019451	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs79840513	chr2:151019522-151019523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs368286138	chr2:151019546-151019547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs553866557	chr2:151019547-151019548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs576971467	chr2:151019559-151019560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs545934930	chr2:151019573-151019574	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs114398115	chr2:151019597-151019598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs183376273	chr2:151019611-151019612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs186300108	chr2:151019635-151019636	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs140500061	chr2:151019637-151019638	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs527654330	chr2:151019652-151019653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs577013286	chr2:151019658-151019659	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs150418705	chr2:151019668-151019669	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs541170105	chr2:151019708-151019709	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs533365894	chr2:151019713-151019714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs34031876	chr2:151019744-151019745	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs111756920	chr2:151019745-151019746	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs570287218	chr2:151019819-151019820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs201883050	chr2:151019823-151019824	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs373992288	chr2:151019847-151019848	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs549670160	chr2:151019890-151019891	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs541436211	chr2:151019911-151019912	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs138598206	chr2:151019919-151019920	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs192079683	chr2:151019931-151019932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs567770020	chr2:151019948-151019949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs553586247	chr2:151020033-151020034	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs34337679	chr2:151020081-151020082	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs73968332	chr2:151020140-151020141	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs539293602	chr2:151020236-151020237	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556308985	chr2:151020314-151020315	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs552987075	chr2:151020319-151020320	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs367862334	chr2:151020321-151020322	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs371815497	chr2:151020333-151020334	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs77084363	chr2:151020341-151020342	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs142791514	chr2:151020346-151020347	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540981340	chr2:151020389-151020390	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs147438981	chr2:151020393-151020394	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs578036638	chr2:151020410-151020411	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs543682074	chr2:151020458-151020459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs556334169	chr2:151020474-151020475	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs183344685	chr2:151020549-151020550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs529476470	chr2:151020582-151020583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs76294304	chr2:151020620-151020621	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs560038663	chr2:151020658-151020659	Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:49)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
lymphocytic leukemia	21291569	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	19156171	CNVD
Acute myeloid leukemia	18000384	CNVD
Autism	20808228	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:151013400-151023800	Weak transcription	Fetal Brain Male	brain
2	chr2:151013800-151022800	Weak transcription	Fetal Lung	lung
3	chr2:151014600-151021400	Weak transcription	A549	lung
4	chr2:151017200-151024000	Weak transcription	NHDF-Ad	bronchial
5	chr2:151018400-151020400	Enhancers	Brain Germinal Matrix	brain
6	chr2:151018600-151022800	Weak transcription	Aorta	Aorta
7	chr2:151018800-151020400	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr2:151018800-151020400	Enhancers	Fetal Brain Female	brain
9	chr2:151019000-151019400	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr2:151019000-151019400	Enhancers	Fetal Muscle Leg	muscle
11	chr2:151019000-151019400	Flanking Active TSS	HUVEC	blood vessel
12	chr2:151019200-151019400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr2:151019200-151020000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr2:151019400-151019600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr2:151019400-151020400	Enhancers	HUVEC	blood vessel
16	chr2:151019400-151021800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr2:151019400-151022600	Weak transcription	Fetal Muscle Leg	muscle
18	chr2:151019800-151020600	Enhancers	Liver	Liver
19	chr2:151020000-151020200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr2:151020000-151020400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr2:151020200-151022600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr2:151020400-151022600	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr2:151020400-151022600	Weak transcription	Brain Germinal Matrix	brain
24	chr2:151020400-151022600	Weak transcription	HUVEC	blood vessel
25	chr2:151020600-151021800	Flanking Active TSS	Liver	Liver
26	chr2:151021400-151022400	Enhancers	A549	lung
27	chr2:151021600-151023200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr2:151021800-151022000	Active TSS	Liver	Liver
29	chr2:151021800-151023200	Enhancers	Stomach Smooth Muscle	stomach
30	chr2:151021800-151023400	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr2:151021800-151023400	Enhancers	Colon Smooth Muscle	Colon
32	chr2:151021800-151026200	Enhancers	NH-A	brain
33	chr2:151021800-151026800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr2:151022000-151022200	Flanking Active TSS	Liver	Liver
35	chr2:151022000-151022800	Enhancers	K562	blood
36	chr2:151022000-151023600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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